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| ID | Type | Description | Link |
|---|---|---|---|
| U01HG006487 | U.S. NIH Grant/Contract | View source |
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| Name | Class |
|---|---|
| National Human Genome Research Institute (NHGRI) | NIH |
| East Carolina University | OTHER |
| Mission Health System, Asheville, NC | OTHER |
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The "North Carolina Clinical Genomic Evaluation by Next-gen Exome Sequencing, 2 (NCGENES 2)" study is part of a larger consortium project investigating the clinical utility, or net benefit of an intervention on patient and family well-being as well as diagnostic efficacy, management planning, and medical outcomes. A clinical trial will be implemented to compare (1) first-line exome sequencing to usual care and (2) participant pre-visit preparation to no pre-visit preparation. The study will use a randomized controlled design, with 2x2 factorial design, coupled with patient-reported outcomes and comprehensive clinical data collection addressing key outcomes, to determine the net impact of diagnostic results and secondary findings.
The NCGENES 2 study is part of the "Clinical Sequencing Evidence-Generating Research (CSER2)" - Clinical Sites with Enhanced Diversity (U01), and brings together interdisciplinary experts from across North Carolina to address questions critical to the translation of genomic medicine to the care of patients with suspected genetic disorders.
In this renewal of the initial NCGENES study, NCGENES 2 will carry out a clinical trial of exome sequencing as a diagnostic test to answer the next set of questions vital to making genome-scale sequencing a routine clinical tool. The study population will be drawn from a state-wide network of Clinical Genetics and Pediatric Neurology clinics -- clinical domains in which patients are enriched for phenotypes caused by heterogeneous genetic conditions. Exome sequencing and genome sequencing (ES/GS) are efficient means of establishing a molecular diagnosis in these populations, with yields of positive or possible diagnostic results in at least 30% of patients examined based on findings from NCGENES and other work. Evidence will be generated regarding the clinical utility of ES/GS using a prospective randomized controlled trial that compares usual care plus exome sequencing to usual care. Patient-reported data, electronic health records data, and administrative claims data will be used to evaluate defined health outcomes, in collaboration with experts in health economics and health services research, to address pressing questions about the utility of exome sequencing. Furthermore, an examination of communication between patients and physicians, and between physicians and laboratories, and how these critical interactions affect the utility of genomic sequencing will be conducted. A second, nested randomized trial (crossed with exome sequencing in a full-factorial design) will be incorporated to test the hypothesis that a theory-based, multi-component pre-clinic preparation intervention for patients will improve patient-centered outcomes. An "embedded Ethical, Legal, and Social Implications (ELSI)" component will provide feedback to providers regarding communication discrepancies to iteratively improve care. Finally, the challenges of integrating clinical data and genomic information across a state-wide network of sites and examining different models of interaction between genomic clinicians and molecular diagnostic laboratorians will be explored.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Pre-visit prep / usual care + exome seq | Experimental | Participants randomized to pre-visit prep will receive a study packet with educational materials and a question prompt list. These participants will be instructed to review the materials, discuss them with family members if desired, use the question prompt list to select questions they would like to ask at clinic visit 1, and bring the list to their clinic visit 1 appointment. Participants will receive usual care and will be offered research exome sequencing. |
|
| Pre-visit prep / usual care | Experimental | Participants randomized to pre-visit prep will receive a study packet with educational materials and a question prompt list. These participants will be instructed to review the materials, discuss them with family members if desired, use the question prompt list to select questions they would like to ask at clinic visit 1, and bring the list to their clinic visit 1 appointment. Participants will receive usual care. |
|
| No prep / usual care + exome seq | Experimental | Participants in the no pre-visit preparation arm will receive a mailed card reminding them about their upcoming clinic visit. Participants will receive usual care and will be offered research exome sequencing. |
|
| No prep / usual care | No Intervention | Participants in the no pre-visit preparation arm will receive a mailed card reminding them about their upcoming clinic visit. Participants will receive usual care. |
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Pre-visit prep | Behavioral | Patient and provider surveys will be used to measure the impact of pre-visit preparation on the primary outcomes of engagement of participants in the clinical interaction and their view of the interaction as patient-centered, in addition to secondary outcomes that may be affected by this intervention (described above). The study investigators will test the hypothesis that patients will benefit from pre-visit preparation by: (1) rating their clinical encounters as more patient-centered and (2) asking more questions during their clinical encounters. |
| Measure | Description | Time Frame |
|---|---|---|
| Initial Patient Pediatric Quality of Life (Peds QL) Score | The Peds QL Measurement Model for the Pediatric Quality of Inventory measures the core dimensions of health as delineated by the World Health Organization as well as role (school) functioning. The 23-item PedsQL Core Scales (Physical Functioning, Emotional Functioning, Social Functioning, and School Functioning) are developmentally appropriate surveys (Ages 2-4, 5-7, 8-12, 13-18) designed for parent proxy report. The 23 items are grouped together on the questionnaire, and are answered on a scale of 0-4. Items are reversed scored and linearly transformed to a 0-100 scale (0=100, 1=75, 2=50, 3=25, 4=0), so that higher scores indicate better Health-Related Quality of Life (HRQOL). This questionnaire will be self-administered at home. | 4-6 weeks prior to clinic visit 1 |
| Final Patient Pediatric Quality of Life (Peds QL) Score | The Peds QL Measurement Model for the Pediatric Quality of Inventory measures the core dimensions of health as delineated by the World Health Organization as well as role (school) functioning. The 23-item PedsQL Core Scales (Physical Functioning, Emotional Functioning, Social Functioning, and School Functioning) are developmentally appropriate surveys (Ages 2-4, 5-7, 8-12, 13-18) designed for parent proxy report. The 23 items are grouped together on the questionnaire, and are answered on a scale of 0-4. Items are reversed scored and linearly transformed to a 0-100 scale (0=100, 1=75, 2=50, 3=25, 4=0), so that higher scores indicate better HRQOL. This questionnaire will be interviewer administered by telephone. | 6 months after return of results |
| Initial Caregiver QoL Score | The Short-Form Health Survey (SF-12) questionnaire is a reliable measure of perceived health that describes the degree of general physical health status and mental health distress. It consists of 12 items, derived from the physical and mental domains. Scores have a range of 0 to 100 and were designed to have a mean score of 50 and a standard deviation of 10 in a representative sample of the US population, with higher scores indicating greater functioning. This questionnaire will be self-administered at home. | 4-6 weeks prior to clinic visit 1 |
| Measure | Description | Time Frame |
|---|---|---|
| Initial Average Peds QL Score for "Missing School for Not Feeling Well" | This is a single item measure from the Peds QL that will be answered on a scale of 0-4. Items are reversed scored and linearly transformed to a 0-100 scale (0=100, 1=75, 2=50, 3=25, 4=0), so that higher scores indicate better HRQOL for this single measure. This questionnaire will be self-administered at home. | 4-6 weeks prior to clinic visit 1 |
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Both children and parents are participants:
Inclusion Criteria:
Parents meeting the following criteria:
Children meeting the following criteria:
Exclusion Criteria:
Parents:
Children:
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| Name | Affiliation | Role |
|---|---|---|
| Jeannette T Bensen, Ph.D | University of North Carolina, Chapel Hill | Study Director |
| Jonathan S Berg, MD, PhD | University of North Carolina, Chapel Hill | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Mission Health | Asheville | North Carolina | 28801 | United States | ||
| University of North Carolina at Chapel Hill |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 23690237 | Background | Aboumatar HJ, Carson KA, Beach MC, Roter DL, Cooper LA. The impact of health literacy on desire for participation in healthcare, medical visit communication, and patient reported outcomes among patients with hypertension. J Gen Intern Med. 2013 Nov;28(11):1469-76. doi: 10.1007/s11606-013-2466-5. Epub 2013 May 21. | |
| 25764213 | Background | ACMG Board of Directors. Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics. Genet Med. 2015 Jun;17(6):505-7. doi: 10.1038/gim.2015.41. Epub 2015 Mar 12. |
| Label | URL |
|---|---|
| Ales M, Luca L, Marija V, Gorazd R, Karin W, Ana B, Alenka H, Peterlin B. Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation. Genet Med \[Internet\]. 2016 Mar 31 \[cited 2016 Aug 3\] | View source |
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This study will comply with NIH mandates to share genetic data via submission of raw genotype calls from whole exome sequencing to the database of Genotypes and Phenotypes (dbGaP). All data that is submitted to dbGaP, including individual participant data, is anonymous and includes demographic variables: age of onset, birthplace, sex, race, education level, age. Data is uploaded in batches to the dbGaP website.
Individual-level de-identified coded data will be available to investigators outside of the study team at the end of the study after publication of primary results. Investigators will apply for data by formal submission of a letter of intent that will be reviewed and approved by the study leadership. Investigators of approved projects will sign an inter-institution data sharing agreement (for investigators outside of the studies parent institution). The analytic data set will be shared with the investigator via a secure server restricted by password access.
Data will be shared following study completion and publication of primary study results.
Described above. Access will be by study leadership permission and under an inter-institutional data sharing agreement where relevant
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927 children were eligible for recruitment, and of these 791 parents/caregivers were approached by phone prior to their clinic visit; 514 parents/caregivers were reached for a recruitment phone call, and a total of 417 dyads consisting of a child and their parent/caregiver were enrolled and consented to randomization. Of these, 274 baseline intake forms were obtained at a clinic visit and those dyads continued in the study, for a total of 548 individuals enrolled in the protocol.
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| ID | Title | Description |
|---|---|---|
| FG000 | Parent/Caregiver Pre-visit Prep + Exome | Dyads (parent/caregiver + child) that are randomized to the "pre-visit prep" arm receive a study packet with educational materials and a question prompt list. The parent/caregiver is instructed to review the materials, discuss them with family members if desired, use the question prompt list to select questions they would like to ask at clinic visit 1, and bring the list to the child's clinic visit 1 appointment. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "exome" arm are offered exome sequencing in addition to tests ordered by the physician at that visit. The parent/caregiver may decline for their child to have exome sequencing at this point. |
| Title | Milestones | Reasons Not Completed | ||||
|---|---|---|---|---|---|---|
| Clinical Study |
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| Type | Includes Protocol | Includes SAP | Includes ICF | Document Label | Document Date | Document Uploaded Date | Document File Name |
|---|---|---|---|---|---|---|---|
| Prot | Yes | No | No | Study Protocol | Mar 12, 2020 | Sep 10, 2024 |
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The study coordinator will assign the first randomization to pre-visit preparation arm and care providers will not be told of the patient's pre-visit preparatory randomization arm prior to the first usual care visit. Randomization to exome sequencing will be performed after the first usual care visit by the study coordinator.
Investigators will receive de-identified coded data and thus will not be able to link a patient name to an intervention arm. Some analyses will require individual-level randomization arm status to allow for comparison of parent questionnaire responses or health outcomes by arm - a major focus of this study.
All interviewers and medical records staff conducting telephone surveys and/or medical records abstraction for clinical data will be blinded to the participants randomization status. Access to this information will be blocked in the electronic patient tracking status by study role.
|
| usual care + exome seq | Diagnostic Test | Provider surveys will be used to assess impact of exome sequencing on diagnostic thinking and management planning. Health utilization and condition-specific general clinical outcomes will be assessed from health records data. |
|
| Intermediate Caregiver QoL Score | The SF-12 questionnaire is a reliable measure of perceived health that describes the degree of general physical health status and mental health distress. It consists of 12 items, derived from the physical and mental domains. Scores have a range of 0 to 100 and were designed to have a mean score of 50 and a standard deviation of 10 in a representative sample of the US population, with higher scores indicating greater functioning. This questionnaire will be interviewer administered by telephone. | 2 weeks after return of results |
| Final Caregiver QoL Score | The SF-12 questionnaire is a reliable measure of perceived health that describes the degree of general physical health status and mental health distress. It consists of 12 items, derived from the physical and mental domains. Scores have a range of 0 to 100 and were designed to have a mean score of 50 and a standard deviation of 10 in a representative sample of the US population, with higher scores indicating greater functioning. This questionnaire will be interviewer administered by telephone. | 6 months after return of results |
| Post-Clinic Visit 1 Mean Patient Centeredness Score | Patient centeredness scale, which measures the caregiver's perception of the level of patient centeredness of their visit with their child's provider (developed by Little et al., 2001). Self-administered in the clinic, immediately after clinic visit 1. Item responses will be coded as: 1=Very strongly disagree; 2=Strongly disagree; 3=Moderately disagree; 4=Neither agree nor disagree; 5=Moderately agree; 6=Strongly agree; 7=Very strongly agree. Response values will be summed and divided by the total number of items (21) to obtain mean scores ranging from 0-7 where higher values indicate stronger perceptions of patient centeredness. | Immediately after clinic 1 day of visit 1 |
| Post-Return of Results Mean Patient Centeredness Score | Patient centeredness scale, which measures the caregiver's perception of the level of patient centeredness of their visit with their child's provider (developed by Little et al., 2001). Self-administered in the clinic, immediately after clinic visit 1. Item responses will be coded as: 1=Very strongly disagree; 2=Strongly disagree; 3=Moderately disagree; 4=Neither agree nor disagree; 5=Moderately agree; 6=Strongly agree; 7=Very strongly agree. Response values will be summed and divided by the total number of items (21) to obtain mean scores ranging from 0-7 where higher values indicate stronger perceptions of patient centeredness. | 2 weeks after return of results |
| Number of Questions Caregiver Asks in Clinic Visit 1 | Count of number of questions caregiver asks provider in the audio recording of clinic visit 1. Coded by trained study staff. | During clinic 1 day of visit 1 |
| Number of In-patient Hospital Admissions Among Child Participants 1 Year Prior to Return of Results | Count of number of in-patient hospital admissions among child participants during 1 year prior to return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Admissions were summed across all participants. | 1 year prior to return of results |
| Number of In-patient Hospital Admissions Among Child Participants 1 Year After Return of Results | Count of number of in-patient hospital admissions among child participants during 1 year after return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Admissions were summed across all participants. | 1 year after return of results |
| Number of In-patient Hospital Days Among Child Participants 1 Year Prior to Return of Results | Count of number of in-patient hospital days among child participants during 1 year prior to return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Days were summed across all participants. | 1 year prior to return of results |
| Number of In-patient Hospital Days Among Child Participants 1 Year After Return of Results | Count of number of in-patient hospital days among child participants during 1 year after return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Days were summed across all participants. | 1 year after return of results |
| Number of Long-term Care Admissions Among Child Participants 1 Year Prior to Return of Results | Count of number of long-term care admissions among child participants during 1 year prior to return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Admissions were summed across all participants. | 1 year prior to return of results |
| Number of Long-term Care Admissions Among Child Participants 1 Year After Return of Results | Count of number of long-term care admissions among child participants during 1 year after return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Admissions were summed across all participants. | 1 year after return of results |
| Number of Long-term Care Days Among Child Participants 1 Year Prior to Return of Results | Count of number of long-term care days among child participants during 1 year prior to return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Days were summed across all participants. | 1 year prior to return of results |
| Number of Long-term Care Days Among Child Participants 1 Year After Return of Results | Count of number of long-term care days during 1 year after return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Days were summed across all participants. | 1 year after return of results |
| Number of ER Visits Among Child Participants 1 Year Prior to Return of Results | Count of number of ER visits during 1 year prior to return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Visits were summed across all participants. | 1 year prior to return of results |
| Number of ER Visits Among Child Participants 1 Year After Return of Results | Count of number of ER visits during 1 year after return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Visits were summed across all participants. | 1 year after return of results |
| Number of Specialists Visits Among Child Participants 1 Year Prior to Return of Results | Count of number of specialists visits during 1 year prior to return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Visits were summed across all participants. | 1 year prior to return of results |
| Number of Specialists Visits Among Child Participants 1 Year After Return of Results | Count of number of specialists visits during 1 year after return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Visits were summed across all participants. | 1 year after return of results |
| Final Average Peds QL Score for "Missing School for Not Feeling Well" | This is a single item measure from the Peds QL that will be answered on a scale of 0-4. Items are reversed scored and linearly transformed to a 0-100 scale (0=100, 1=75, 2=50, 3=25, 4=0), so that higher scores indicate better HRQOL for this single measure. This questionnaire will be interviewer-administered by telephone. | 6 months after return of results |
| Initial Average Peds QL Score for "Missing School for Doctors Visit" | This is a single item measure from the Peds QL that will be answered on a scale of 0-4. Items are reversed scored and linearly transformed to a 0-100 scale (0=100, 1=75, 2=50, 3=25, 4=0), so that higher scores indicate better HRQOL for this single measure. This measure will be included in the questionnaire that will be self-administered at home. | 4-6 weeks prior to clinic visit 1 |
| Final Average Peds QL Score for "Missing School for Doctors Visit" | This is a single item measure from the Peds QL that will be answered on a scale of 0-4. Items are reversed scored and linearly transformed to a 0-100 scale (0=100, 1=75, 2=50, 3=25, 4=0), so that higher scores indicate better HRQOL for this single measure. This measure will be interviewer administered by telephone. | 6 months after return of results |
| Initial Amount of Work Missed Because of Child's Condition or Treatments Score | This is a single item measure that will be answered on a scale of 1-6 where 1=None, 2=Less than a week, 3=Between 1 and 4 weeks, 4= Between 4 and 8 weeks, 5=Between 8 and 12 weeks, 6=I stopped working altogether. Higher scores indicate greater amounts of work missed because of the child's condition or treatments. This measure will be included in the questionnaire that will be self-administered at home. | 4-6 weeks prior to clinic visit 1 |
| Final Amount of Work Missed Because of Child's Condition or Treatments Score | This is a single item measure that will be answered on a scale of 1-6 where 1=None, 2=Less than a week, 3=Between 1 and 4 weeks, 4= Between 4 and 8 weeks, 5=Between 8 and 12 weeks, 6=I stopped working altogether. Higher scores indicate greater amounts of work missed because of the child's condition or treatments. This measure will be interviewer-administered by telephone. | 6 months after return of results |
| Initial Difficulty With Finishing Normal Work (Including Both Work Outside of the Home and Housework) Because of Child's Condition or Treatments Score | This is a single item measure that will be answered on a scale of 1-5, where 1=Not at all, 2=A little bit, 3=Somewhat, 4=Quite a bit, 5=Very much. Higher scores indicate greater difficulty finishing normal work (including both work outside of the home and housework) because of child's condition or treatments. This measure will be included in the questionnaire that will be self-administered at home. | 4-6 weeks prior to clinic visit 1 |
| Intermediate Difficulty With Finishing Normal Work (Including Both Work Outside of the Home and Housework) Because of Child's Condition or Treatments Score | This is a single item measure that will be answered on a scale of 1-5, where 1=Not at all, 2=A little bit, 3=Somewhat, 4=Quite a bit, 5=Very much. Higher scores indicate greater difficulty finishing normal work (including both work outside of the home and housework) because of child's condition or treatments. This measure will be interviewer-administered by telephone. | 2 weeks after return of results |
| Final Difficulty With Finishing Normal Work (Including Both Work Outside of the Home and Housework) Because of Child's Condition or Treatments Score | This is a single item measure that will be answered on a scale of 1-5, where 1=Not at all, 2=A little bit, 3=Somewhat, 4=Quite a bit, 5=Very much. Higher scores indicate greater difficulty finishing normal work (including both work outside of the home and housework) because of child's condition or treatments. This measure will be interviewer-administered by telephone. | 6 months after return of results |
| Percent Concordance of Caregiver and Provider Reports of Genetic or Genomic Test Results | Concordance between caregiver and provider reports of whether patients' diagnostic results were positive, negative, or uncertain. Coded as a dichotomous variable: 0=discordant diagnostic reports; 1=concordant diagnostic reports. Results are given as the number of parent/caregiver participant responses for each group that were concordant with the provider's diagnostic interpretation of the exome results. | 2 weeks after return of results |
| Mean Baseline Self Efficacy Score | Self-efficacy scale, which measures caregivers' confidence in communicating with their child's provider. Self-administered as part of the intake questionnaire. Measured with adapted Decision Self Efficacy Scale (developed by O'Connor, 1995). Adapted wording from the original scale so items refer to general communication, as opposed to a specific decision. Shorted scale to 7 items from 11 since not all items were applicable to this study. Item responses will be coded as: 1=Not at all confident; 5=Very confident. Mean scores will be calculated by summing the response values and dividing by the total number of items (7). Higher scores indicate higher confidence in communicating with their child's provider. | 4-6 weeks prior to clinic visit 1 |
| Mean Pre-Clinic Visit 1 Self Efficacy Score | Self-efficacy scale, which measures caregivers' confidence in communicating with their child's provider. Self-administered as part of the intake questionnaire. Measured with adapted Decision Self Efficacy Scale (developed by O'Connor, 1995). Adapted wording from the original scale so items refer to general communication, as opposed to a specific decision. Shorted scale to 7 items from 11 since not all items were applicable to this study. Item responses will be coded as: 1=Not at all confident; 5=Very confident. Mean scores will be calculated by summing the response values and dividing by the total number of items (7). Higher scores indicate higher confidence in communicating with their child's provider. | Immediately before Clinic Visit 1 |
| Post-Return of Results Mean FACToR Uncertainty Subscale Score | Subscale of the Feeling About genomiC Testing Results measure assesses caregivers' level of uncertainty about their child's genetic test results (developed by Gallego et al., 2014). Interviewer administered by telephone. Item responses will be coded as: 1=Not at all; 2=A little; 3=Somewhat; 4=A good deal; 5=A great deal. Mean scores will be calculated by summing the response values and dividing by the total number of items (3). Higher scores indicate greater uncertainty about their child's genetic test results. | 2 weeks after return of results |
| Vital Status at Final f/u | Based on NC Vital Statistics, the child's vital status will be reported as living or deceased. | Final follow-up, up to approximately three years after clinic visit 1 |
| Number of Child Participants With Causes of Death Unrelated to the Study | Child causes of death related to the primary condition based on NC Vital Statistics, child causes of death will be reported as related to the disorder of the child or not related to the disorder of the child. | Final follow-up, up to approximately three years after clinic visit 1 |
| Chapel Hill |
| North Carolina |
| 27599 |
| United States |
| East Carolina University | Greenville | North Carolina | 27858 | United States |
| 25637381 | Background | Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, Abrudan JL, Johnson AD, Conlin LK, Dulik MC, Santani A, Metterville DR, Kelly M, Foreman AK, Lee K, Taylor KD, Guo X, Crooks K, Kiedrowski LA, Raffel LJ, Gordon O, Machini K, Desnick RJ, Biesecker LG, Lubitz SA, Mulchandani S, Cooper GM, Joffe S, Richards CS, Yang Y, Rotter JI, Rich SS, O'Donnell CJ, Berg JS, Spinner NB, Evans JP, Fullerton SM, Leppig KA, Bennett RL, Bird T, Sybert VP, Grady WM, Tabor HK, Kim JH, Bamshad MJ, Wilfond B, Motulsky AG, Scott CR, Pritchard CC, Walsh TD, Burke W, Raskind WH, Byers P, Hisama FM, Rehm H, Nickerson DA, Jarvik GP. Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 Mar;25(3):305-15. doi: 10.1101/gr.183483.114. Epub 2015 Jan 30. |
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| 39315524 | Derived | Angelo F, Waltz M, Yan H, Berg JS, Foreman AKM, O'Daniel J, Rini C. Group-based medical mistrust in genomic medicine: Associations with patient and provider perceptions of a specialty clinical encounter. Genet Med. 2024 Dec;26(12):101279. doi: 10.1016/j.gim.2024.101279. Epub 2024 Sep 21. |
| 34127041 | Derived | Staley BS, Milko LV, Waltz M, Griesemer I, Mollison L, Grant TL, Farnan L, Roche M, Navas A, Lightfoot A, Foreman AKM, O'Daniel JM, O'Neill SC, Lin FC, Roman TS, Brandt A, Powell BC, Rini C, Berg JS, Bensen JT. Evaluating the clinical utility of early exome sequencing in diverse pediatric outpatient populations in the North Carolina Clinical Genomic Evaluation of Next-generation Exome Sequencing (NCGENES) 2 study: a randomized controlled trial. Trials. 2021 Jun 14;22(1):395. doi: 10.1186/s13063-021-05341-2. |
| FG001 | Parent/Caregiver Pre-visit Prep + Usual Care | Dyads (parent/caregiver + child) that are randomized to the "pre-visit prep" arm receive a study packet with educational materials and a question prompt list. The parent/caregiver is instructed to review the materials, discuss them with family members if desired, use the question prompt list to select questions they would like to ask at clinic visit 1, and bring the list to the child's clinic visit 1 appointment. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
| FG002 | Parent/Caregiver No Pre-visit Prep + Exome | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "exome" arm are offered exome sequencing in addition to tests ordered by the physician at that visit. The parent/caregiver may decline for their child to have exome sequencing at this point. |
| FG003 | Parent/Caregiver No Pre-visit Prep + Usual Care | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
| FG004 | Child Pre-visit Prep + Exome | Dyads (parent/caregiver + child) that are randomized to the "pre-visit prep" arm receive a study packet with educational materials and a question prompt list. The parent/caregiver is instructed to review the materials, discuss them with family members if desired, use the question prompt list to select questions they would like to ask at clinic visit 1, and bring the list to the child's clinic visit 1 appointment. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "exome" arm are offered exome sequencing in addition to tests ordered by the physician at that visit. The parent/caregiver may decline for their child to have exome sequencing at this point. |
| FG005 | Child Pre-visit Prep + Usual Care | Dyads (parent/caregiver + child) that are randomized to the "pre-visit prep" arm receive a study packet with educational materials and a question prompt list. The parent/caregiver is instructed to review the materials, discuss them with family members if desired, use the question prompt list to select questions they would like to ask at clinic visit 1, and bring the list to the child's clinic visit 1 appointment. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
| FG006 | Child No Pre-visit Prep + Exome | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "exome" arm are offered exome sequencing in addition to tests ordered by the physician at that visit. The parent/caregiver may decline for their child to have exome sequencing at this point. |
| FG007 | Child No Pre-visit Prep + Usual Care | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
|
| Second Stage Randomization and Consent Discussion | The 274 dyads who completed the clinic visit underwent a secondary consent discussion for randomization of the child participant to exome sequencing or usual care. Of these, 250 agreed to be randomized. Only the child participant was involved in this aspect of the study. |
|
| COMPLETED |
|
| NOT COMPLETED |
|
| Health Care Records Analysis |
|
274 dyads were randomized to the four study groups
Not provided
| ID | Title | Description |
|---|---|---|
| BG000 | Parent/Caregiver Pre-visit Prep + Exome | Dyads (parent/caregiver + child) randomized to the "pre-visit prep" arm receive a study packet with educational materials and a question prompt list. The parent/caregiver is instructed to review the materials, discuss them with family members if desired, use the question prompt list to select questions they would like to ask at clinic visit 1, and bring the list to the child's clinic visit 1 appointment. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads randomized to the "exome" arm are offered exome sequencing in addition to tests ordered by the physician at that visit. The parent/caregiver may decline for their child to have exome sequencing at this point. |
| BG001 | Parent/Caregiver Pre-visit Prep + Usual Care | Dyads (parent/caregiver + child) randomized to the "pre-visit prep" arm receive a study packet with educational materials and a question prompt list. The parent/caregiver is instructed to review the materials, discuss them with family members if desired, use the question prompt list to select questions they would like to ask at clinic visit 1, and bring the list to the child's clinic visit 1 appointment. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads randomized to the "usual care" arm are not offered additional exome sequencing. |
| BG002 | Parent/Caregiver No Pre-visit Prep + Exome | Dyads (parent/caregiver + child) randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads randomized to the "exome" arm are offered exome sequencing in addition to tests ordered by the physician at that visit. The parent/caregiver may decline for their child to have exome sequencing at this point. |
| BG003 | Parent/Caregiver No Pre-visit Prep + Usual Care | Dyads (parent/caregiver + child) randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads randomized to the "usual care" arm are not offered additional exome sequencing. |
| BG004 | Child Pre-visit Prep + Exome | Dyads (parent/caregiver + child) randomized to the "pre-visit prep" arm receive a study packet with educational materials and a question prompt list. The parent/caregiver is instructed to review the materials, discuss them with family members if desired, use the question prompt list to select questions they would like to ask at clinic visit 1, and bring the list to the child's clinic visit 1 appointment. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads randomized to the "exome" arm are offered exome sequencing in addition to tests ordered by the physician at that visit. The parent/caregiver may decline for their child to have exome sequencing at this point. |
| BG005 | Child Pre-visit Prep + Usual Care | Dyads (parent/caregiver + child) randomized to the "pre-visit prep" arm receive a study packet with educational materials and a question prompt list. The parent/caregiver is instructed to review the materials, discuss them with family members if desired, use the question prompt list to select questions they would like to ask at clinic visit 1, and bring the list to the child's clinic visit 1 appointment. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads randomized to the "usual care" arm are not offered additional exome sequencing. |
| BG006 | Child No Pre-visit Prep + Exome | Dyads (parent/caregiver + child) randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads randomized to the "exome" arm are offered exome sequencing in addition to tests ordered by the physician at that visit. The parent/caregiver may decline for their child to have exome sequencing at this point. |
| BG007 | Child No Pre-visit Prep + Usual Care | Dyads (parent/caregiver + child) randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads randomized to the "usual care" arm are not offered additional exome sequencing. |
| BG008 | Total | Total of all reporting groups |
| Units | Counts |
|---|---|
| Participants |
|
| Title | Description | Population Description | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Denominator Units Selected | Denominators | Classes | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Age, Continuous | Mean | Standard Deviation | years |
| |||||||||||||||
| Sex/Gender, Customized | Count of Participants | Participants |
| ||||||||||||||||
| Race/Ethnicity, Customized | Participants could select any number of categories that represented their race/ethnicity. Therefore, the summed numbers may exceed the number of participants. | Count of Participants | Participants |
|
| Type | Title | Description | Population Description | Reporting Status | Anticipated Posting Date | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Time Frame | Units Analyzed | Denominator Units Selected | Arm/Group Information | Denominators | Classes | Analyses | |||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Primary | Initial Patient Pediatric Quality of Life (Peds QL) Score | The Peds QL Measurement Model for the Pediatric Quality of Inventory measures the core dimensions of health as delineated by the World Health Organization as well as role (school) functioning. The 23-item PedsQL Core Scales (Physical Functioning, Emotional Functioning, Social Functioning, and School Functioning) are developmentally appropriate surveys (Ages 2-4, 5-7, 8-12, 13-18) designed for parent proxy report. The 23 items are grouped together on the questionnaire, and are answered on a scale of 0-4. Items are reversed scored and linearly transformed to a 0-100 scale (0=100, 1=75, 2=50, 3=25, 4=0), so that higher scores indicate better Health-Related Quality of Life (HRQOL). This questionnaire will be self-administered at home. | This analysis is conducted among the parent/caregiver participants only. | Posted | Mean | Standard Deviation | score on a scale | 4-6 weeks prior to clinic visit 1 |
|
|
| ||||||||||||||||||||||||||||||||||
| Primary | Final Patient Pediatric Quality of Life (Peds QL) Score | The Peds QL Measurement Model for the Pediatric Quality of Inventory measures the core dimensions of health as delineated by the World Health Organization as well as role (school) functioning. The 23-item PedsQL Core Scales (Physical Functioning, Emotional Functioning, Social Functioning, and School Functioning) are developmentally appropriate surveys (Ages 2-4, 5-7, 8-12, 13-18) designed for parent proxy report. The 23 items are grouped together on the questionnaire, and are answered on a scale of 0-4. Items are reversed scored and linearly transformed to a 0-100 scale (0=100, 1=75, 2=50, 3=25, 4=0), so that higher scores indicate better HRQOL. This questionnaire will be interviewer administered by telephone. | This analysis is conducted among the parent/caregiver participants only. | Posted | Mean | Standard Deviation | score on a scale | 6 months after return of results |
| ||||||||||||||||||||||||||||||||||||
| Primary | Initial Caregiver QoL Score | The Short-Form Health Survey (SF-12) questionnaire is a reliable measure of perceived health that describes the degree of general physical health status and mental health distress. It consists of 12 items, derived from the physical and mental domains. Scores have a range of 0 to 100 and were designed to have a mean score of 50 and a standard deviation of 10 in a representative sample of the US population, with higher scores indicating greater functioning. This questionnaire will be self-administered at home. | This analysis is conducted among the parent/caregiver participants only. | Posted | Mean | Standard Deviation | score on a scale | 4-6 weeks prior to clinic visit 1 |
| ||||||||||||||||||||||||||||||||||||
| Primary | Intermediate Caregiver QoL Score | The SF-12 questionnaire is a reliable measure of perceived health that describes the degree of general physical health status and mental health distress. It consists of 12 items, derived from the physical and mental domains. Scores have a range of 0 to 100 and were designed to have a mean score of 50 and a standard deviation of 10 in a representative sample of the US population, with higher scores indicating greater functioning. This questionnaire will be interviewer administered by telephone. | This analysis is conducted among the parent/caregiver participants only. | Posted | Mean | Standard Deviation | score on a scale | 2 weeks after return of results |
| ||||||||||||||||||||||||||||||||||||
| Primary | Final Caregiver QoL Score | The SF-12 questionnaire is a reliable measure of perceived health that describes the degree of general physical health status and mental health distress. It consists of 12 items, derived from the physical and mental domains. Scores have a range of 0 to 100 and were designed to have a mean score of 50 and a standard deviation of 10 in a representative sample of the US population, with higher scores indicating greater functioning. This questionnaire will be interviewer administered by telephone. | This analysis is conducted among the parent/caregiver participants only. | Posted | Mean | Standard Deviation | score on a scale | 6 months after return of results |
| ||||||||||||||||||||||||||||||||||||
| Primary | Post-Clinic Visit 1 Mean Patient Centeredness Score | Patient centeredness scale, which measures the caregiver's perception of the level of patient centeredness of their visit with their child's provider (developed by Little et al., 2001). Self-administered in the clinic, immediately after clinic visit 1. Item responses will be coded as: 1=Very strongly disagree; 2=Strongly disagree; 3=Moderately disagree; 4=Neither agree nor disagree; 5=Moderately agree; 6=Strongly agree; 7=Very strongly agree. Response values will be summed and divided by the total number of items (21) to obtain mean scores ranging from 0-7 where higher values indicate stronger perceptions of patient centeredness. | This analysis is conducted among the parent/caregiver participants only. | Posted | Mean | Standard Deviation | score on a scale | Immediately after clinic 1 day of visit 1 |
| ||||||||||||||||||||||||||||||||||||
| Primary | Post-Return of Results Mean Patient Centeredness Score | Patient centeredness scale, which measures the caregiver's perception of the level of patient centeredness of their visit with their child's provider (developed by Little et al., 2001). Self-administered in the clinic, immediately after clinic visit 1. Item responses will be coded as: 1=Very strongly disagree; 2=Strongly disagree; 3=Moderately disagree; 4=Neither agree nor disagree; 5=Moderately agree; 6=Strongly agree; 7=Very strongly agree. Response values will be summed and divided by the total number of items (21) to obtain mean scores ranging from 0-7 where higher values indicate stronger perceptions of patient centeredness. | This analysis is conducted among the parent/caregiver participants only. | Posted | Mean | Standard Deviation | score on a scale | 2 weeks after return of results |
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| Primary | Number of Questions Caregiver Asks in Clinic Visit 1 | Count of number of questions caregiver asks provider in the audio recording of clinic visit 1. Coded by trained study staff. | This analysis is conducted among the parent/caregiver participants who attended a clinic visit that was transcribed (a subset of all dyads who completed Clinic Visit 1). The analysis populations only represent the first randomization (Pre-visit prep vs. No pre-visit prep) because the second randomization (Exome vs. Usual care) did not occur until after the clinic visit was completed, and was therefore not germane to this specific outcome measure. | Posted | Mean | Standard Deviation | Number of questions asked | During clinic 1 day of visit 1 |
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| Primary | Number of In-patient Hospital Admissions Among Child Participants 1 Year Prior to Return of Results | Count of number of in-patient hospital admissions among child participants during 1 year prior to return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Admissions were summed across all participants. | This analysis includes the subset of child participants with 12 months of EHR data available before and after study results were returned. | Posted | Number | In-patient hospital admissions | 1 year prior to return of results |
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| Primary | Number of In-patient Hospital Admissions Among Child Participants 1 Year After Return of Results | Count of number of in-patient hospital admissions among child participants during 1 year after return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Admissions were summed across all participants. | This analysis includes the subset of child participants with 12 months of EHR data available before and after study results were returned. | Posted | Number | In-patient hospital admissions | 1 year after return of results |
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| Primary | Number of In-patient Hospital Days Among Child Participants 1 Year Prior to Return of Results | Count of number of in-patient hospital days among child participants during 1 year prior to return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Days were summed across all participants. | This analysis includes the subset of child participants with 12 months of EHR data available before and after study results were returned. | Posted | Number | In-patient hospital days | 1 year prior to return of results |
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| Primary | Number of In-patient Hospital Days Among Child Participants 1 Year After Return of Results | Count of number of in-patient hospital days among child participants during 1 year after return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Days were summed across all participants. | This analysis includes the subset of child participants with 12 months of EHR data available before and after study results were returned. | Posted | Number | In-patient hospital days | 1 year after return of results |
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| Primary | Number of Long-term Care Admissions Among Child Participants 1 Year Prior to Return of Results | Count of number of long-term care admissions among child participants during 1 year prior to return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Admissions were summed across all participants. | This analysis includes the subset of child participants with 12 months of EHR data available before and after study results were returned. | Posted | Number | Long-term care admissions | 1 year prior to return of results |
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| Primary | Number of Long-term Care Admissions Among Child Participants 1 Year After Return of Results | Count of number of long-term care admissions among child participants during 1 year after return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Admissions were summed across all participants. | This analysis includes the subset of child participants with 12 months of EHR data available before and after study results were returned. | Posted | Number | Long-term care admissions | 1 year after return of results |
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| Primary | Number of Long-term Care Days Among Child Participants 1 Year Prior to Return of Results | Count of number of long-term care days among child participants during 1 year prior to return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Days were summed across all participants. | This analysis includes the subset of child participants with 12 months of EHR data available before and after study results were returned. | Posted | Number | Long-term care days | 1 year prior to return of results |
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| Primary | Number of Long-term Care Days Among Child Participants 1 Year After Return of Results | Count of number of long-term care days during 1 year after return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Days were summed across all participants. | This analysis includes the subset of child participants with 12 months of EHR data available before and after study results were returned. | Posted | Number | Long-term care days | 1 year after return of results |
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| Primary | Number of ER Visits Among Child Participants 1 Year Prior to Return of Results | Count of number of ER visits during 1 year prior to return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Visits were summed across all participants. | This analysis includes the subset of child participants with 12 months of EHR data available before and after study results were returned. | Posted | Number | ER visits | 1 year prior to return of results |
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| Primary | Number of ER Visits Among Child Participants 1 Year After Return of Results | Count of number of ER visits during 1 year after return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Visits were summed across all participants. | This analysis includes the subset of child participants with 12 months of EHR data available before and after study results were returned. | Posted | Number | ER visits | 1 year after return of results |
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| Primary | Number of Specialists Visits Among Child Participants 1 Year Prior to Return of Results | Count of number of specialists visits during 1 year prior to return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Visits were summed across all participants. | This analysis includes the subset of child participants with 12 months of EHR data available before and after study results were returned. | Posted | Number | Specialist visits | 1 year prior to return of results |
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| Primary | Number of Specialists Visits Among Child Participants 1 Year After Return of Results | Count of number of specialists visits during 1 year after return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Visits were summed across all participants. | This analysis includes the subset of child participants with 12 months of EHR data available before and after study results were returned. | Posted | Number | Specialist visits | 1 year after return of results |
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| Secondary | Initial Average Peds QL Score for "Missing School for Not Feeling Well" | This is a single item measure from the Peds QL that will be answered on a scale of 0-4. Items are reversed scored and linearly transformed to a 0-100 scale (0=100, 1=75, 2=50, 3=25, 4=0), so that higher scores indicate better HRQOL for this single measure. This questionnaire will be self-administered at home. | This analysis is conducted among the parent/caregiver participants only. The parent/caregiver completes this measure as a proxy for the child. | Posted | Mean | Standard Deviation | score on a scale | 4-6 weeks prior to clinic visit 1 |
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| Secondary | Final Average Peds QL Score for "Missing School for Not Feeling Well" | This is a single item measure from the Peds QL that will be answered on a scale of 0-4. Items are reversed scored and linearly transformed to a 0-100 scale (0=100, 1=75, 2=50, 3=25, 4=0), so that higher scores indicate better HRQOL for this single measure. This questionnaire will be interviewer-administered by telephone. | This analysis is conducted among the parent/caregiver participants only. The parent/caregiver completes this measure as a proxy for the child. | Posted | Mean | Standard Deviation | score on a scale | 6 months after return of results |
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| Secondary | Initial Average Peds QL Score for "Missing School for Doctors Visit" | This is a single item measure from the Peds QL that will be answered on a scale of 0-4. Items are reversed scored and linearly transformed to a 0-100 scale (0=100, 1=75, 2=50, 3=25, 4=0), so that higher scores indicate better HRQOL for this single measure. This measure will be included in the questionnaire that will be self-administered at home. | This analysis is conducted among the parent/caregiver participants only. The parent/caregiver completes this measure as a proxy for the child. | Posted | Mean | Standard Deviation | score on a scale | 4-6 weeks prior to clinic visit 1 |
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| Secondary | Final Average Peds QL Score for "Missing School for Doctors Visit" | This is a single item measure from the Peds QL that will be answered on a scale of 0-4. Items are reversed scored and linearly transformed to a 0-100 scale (0=100, 1=75, 2=50, 3=25, 4=0), so that higher scores indicate better HRQOL for this single measure. This measure will be interviewer administered by telephone. | This analysis is conducted among the parent/caregiver participants only. The parent/caregiver completes this measure as a proxy for the child. | Posted | Mean | Standard Deviation | score on a scale | 6 months after return of results |
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| Secondary | Initial Amount of Work Missed Because of Child's Condition or Treatments Score | This is a single item measure that will be answered on a scale of 1-6 where 1=None, 2=Less than a week, 3=Between 1 and 4 weeks, 4= Between 4 and 8 weeks, 5=Between 8 and 12 weeks, 6=I stopped working altogether. Higher scores indicate greater amounts of work missed because of the child's condition or treatments. This measure will be included in the questionnaire that will be self-administered at home. | This analysis is conducted among the parent/caregiver participants only. | Posted | Mean | Standard Deviation | score on a scale | 4-6 weeks prior to clinic visit 1 |
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| Secondary | Final Amount of Work Missed Because of Child's Condition or Treatments Score | This is a single item measure that will be answered on a scale of 1-6 where 1=None, 2=Less than a week, 3=Between 1 and 4 weeks, 4= Between 4 and 8 weeks, 5=Between 8 and 12 weeks, 6=I stopped working altogether. Higher scores indicate greater amounts of work missed because of the child's condition or treatments. This measure will be interviewer-administered by telephone. | This analysis is conducted among the parent/caregiver participants only. | Posted | Mean | Standard Deviation | score on a scale | 6 months after return of results |
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| Secondary | Initial Difficulty With Finishing Normal Work (Including Both Work Outside of the Home and Housework) Because of Child's Condition or Treatments Score | This is a single item measure that will be answered on a scale of 1-5, where 1=Not at all, 2=A little bit, 3=Somewhat, 4=Quite a bit, 5=Very much. Higher scores indicate greater difficulty finishing normal work (including both work outside of the home and housework) because of child's condition or treatments. This measure will be included in the questionnaire that will be self-administered at home. | This analysis is conducted among the parent/caregiver participants only. | Posted | Mean | Standard Deviation | score on a scale | 4-6 weeks prior to clinic visit 1 |
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| Secondary | Intermediate Difficulty With Finishing Normal Work (Including Both Work Outside of the Home and Housework) Because of Child's Condition or Treatments Score | This is a single item measure that will be answered on a scale of 1-5, where 1=Not at all, 2=A little bit, 3=Somewhat, 4=Quite a bit, 5=Very much. Higher scores indicate greater difficulty finishing normal work (including both work outside of the home and housework) because of child's condition or treatments. This measure will be interviewer-administered by telephone. | This analysis is conducted among the parent/caregiver participants only. | Posted | Mean | Standard Deviation | score on a scale | 2 weeks after return of results |
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| Secondary | Final Difficulty With Finishing Normal Work (Including Both Work Outside of the Home and Housework) Because of Child's Condition or Treatments Score | This is a single item measure that will be answered on a scale of 1-5, where 1=Not at all, 2=A little bit, 3=Somewhat, 4=Quite a bit, 5=Very much. Higher scores indicate greater difficulty finishing normal work (including both work outside of the home and housework) because of child's condition or treatments. This measure will be interviewer-administered by telephone. | This analysis is conducted among the parent/caregiver participants only. | Posted | Mean | Standard Deviation | score on a scale | 6 months after return of results |
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| Secondary | Percent Concordance of Caregiver and Provider Reports of Genetic or Genomic Test Results | Concordance between caregiver and provider reports of whether patients' diagnostic results were positive, negative, or uncertain. Coded as a dichotomous variable: 0=discordant diagnostic reports; 1=concordant diagnostic reports. Results are given as the number of parent/caregiver participant responses for each group that were concordant with the provider's diagnostic interpretation of the exome results. | This analysis is only performed in the subset of parent/caregiver participants whose child was randomized to receive exome sequencing and received an interpretation of their exome data from a provider. | Posted | Number | participants | 2 weeks after return of results |
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| Secondary | Mean Baseline Self Efficacy Score | Self-efficacy scale, which measures caregivers' confidence in communicating with their child's provider. Self-administered as part of the intake questionnaire. Measured with adapted Decision Self Efficacy Scale (developed by O'Connor, 1995). Adapted wording from the original scale so items refer to general communication, as opposed to a specific decision. Shorted scale to 7 items from 11 since not all items were applicable to this study. Item responses will be coded as: 1=Not at all confident; 5=Very confident. Mean scores will be calculated by summing the response values and dividing by the total number of items (7). Higher scores indicate higher confidence in communicating with their child's provider. | This analysis is conducted among the parent/caregiver participants only. | Posted | Mean | Standard Deviation | score on a scale | 4-6 weeks prior to clinic visit 1 |
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| Secondary | Mean Pre-Clinic Visit 1 Self Efficacy Score | Self-efficacy scale, which measures caregivers' confidence in communicating with their child's provider. Self-administered as part of the intake questionnaire. Measured with adapted Decision Self Efficacy Scale (developed by O'Connor, 1995). Adapted wording from the original scale so items refer to general communication, as opposed to a specific decision. Shorted scale to 7 items from 11 since not all items were applicable to this study. Item responses will be coded as: 1=Not at all confident; 5=Very confident. Mean scores will be calculated by summing the response values and dividing by the total number of items (7). Higher scores indicate higher confidence in communicating with their child's provider. | This analysis is conducted among the parent/caregiver participants only. | Posted | Mean | Standard Deviation | score on a scale | Immediately before Clinic Visit 1 |
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| Secondary | Post-Return of Results Mean FACToR Uncertainty Subscale Score | Subscale of the Feeling About genomiC Testing Results measure assesses caregivers' level of uncertainty about their child's genetic test results (developed by Gallego et al., 2014). Interviewer administered by telephone. Item responses will be coded as: 1=Not at all; 2=A little; 3=Somewhat; 4=A good deal; 5=A great deal. Mean scores will be calculated by summing the response values and dividing by the total number of items (3). Higher scores indicate greater uncertainty about their child's genetic test results. | This analysis is conducted among the parent/caregiver participants only. | Posted | Mean | Standard Deviation | score on a scale | 2 weeks after return of results |
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| Secondary | Vital Status at Final f/u | Based on NC Vital Statistics, the child's vital status will be reported as living or deceased. | Child participants for whom sufficient data was available to determine vital status at follow-up | Posted | Count of Participants | Participants | Final follow-up, up to approximately three years after clinic visit 1 |
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| Secondary | Number of Child Participants With Causes of Death Unrelated to the Study | Child causes of death related to the primary condition based on NC Vital Statistics, child causes of death will be reported as related to the disorder of the child or not related to the disorder of the child. | One child participant died during the course of the study follow-up period, unrelated to the study intervention. Cause of death was multiple organ failure and septic shock. | Posted | Count of Participants | Participants | Final follow-up, up to approximately three years after clinic visit 1 |
|
Up to 3 years
Not provided
Not provided
| ID | Title | Description | Deaths (Affected) | Deaths (At Risk) | Serious Events (Affected) | Serious Events (At Risk) | Other Events (Affected) | Other Events (At Risk) |
|---|---|---|---|---|---|---|---|---|
| EG000 | Child Pre-visit Prep + Exome | Dyads (parent/caregiver + child) that are randomized to the "pre-visit prep" arm receive a study packet with educational materials and a question prompt list. The parent/caregiver is instructed to review the materials, discuss them with family members if desired, use the question prompt list to select questions they would like to ask at clinic visit 1, and bring the list to the child's clinic visit 1 appointment. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "exome" arm are offered exome sequencing in addition to tests ordered by the physician at that visit. The parent/caregiver may decline for their child to have exome sequencing at this point. | 0 | 53 | 0 | 53 | 0 | 53 |
| EG001 | Child Pre-visit Prep + Usual Care | Dyads (parent/caregiver + child) that are randomized to the "pre-visit prep" arm receive a study packet with educational materials and a question prompt list. The parent/caregiver is instructed to review the materials, discuss them with family members if desired, use the question prompt list to select questions they would like to ask at clinic visit 1, and bring the list to the child's clinic visit 1 appointment. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. | 1 | 70 | 1 | 70 | 0 | 70 |
| EG002 | Child No Pre-visit Prep + Exome | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "exome" arm are offered exome sequencing in addition to tests ordered by the physician at that visit. The parent/caregiver may decline for their child to have exome sequencing at this point. | 0 | 59 | 0 | 59 | 0 | 59 |
| EG003 | Child No Pre-visit Prep + Usual Care | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. | 0 | 68 | 0 | 68 | 0 | 68 |
| Term | Organ System | Source Vocabulary | Assessment Type | Notes | Statistical Information |
|---|---|---|---|---|---|
| Septic Shock | General disorders | Non-systematic Assessment |
|
Not provided
Disruption of enrollment due to COVID-19 pandemic; required temporary pause in enrollment followed by adjusted study procedures. Instability of study personnel at one enrollment site led to fewer participants enrolled than initially anticipated.
Not provided
Not provided
Not provided
| Title | Organization | Phone | Extension | |
|---|---|---|---|---|
| Jonathan Berg, MD, PhD | University of North Carolina at Chapel Hill | 919-966-7043 | jonathan_berg@med.unc.edu |
| Prot_006.pdf |
| ICF | No | No | Yes | Informed Consent Form: 7-14 Assent Form 1 Randomization to Research | Feb 28, 2018 | May 18, 2018 | ICF_000.pdf |
| ICF | No | No | Yes | Informed Consent Form: 7-14 Assent Form 2 Assent to Research | Feb 28, 2018 | May 18, 2018 | ICF_001.pdf |
| ICF | No | No | Yes | Informed Consent Form: 15-17 Assent Form 1 Randomization to Research | Feb 28, 2018 | May 18, 2018 | ICF_002.pdf |
| ICF | No | No | Yes | Informed Consent Form: 15-17 Assent Form 2 Assent to Research | Feb 28, 2018 | May 18, 2018 | ICF_003.pdf |
| ICF | No | No | Yes | Informed Consent Form: Consent Form 1 Randomization to Research | Feb 28, 2018 | May 18, 2018 | ICF_004.pdf |
| ICF | No | No | Yes | Informed Consent Form: Consent Form 2 Assent to Research | Feb 28, 2018 | May 18, 2018 | ICF_005.pdf |
Not provided
| ID | Term |
|---|---|
| D004827 | Epilepsy |
| D009468 | Neuromuscular Diseases |
| D008607 | Intellectual Disability |
| D000067877 | Autism Spectrum Disorder |
| D009123 | Muscle Hypotonia |
| D008661 | Metabolism, Inborn Errors |
| D009069 | Movement Disorders |
| D030342 | Genetic Diseases, Inborn |
| D007859 | Learning Disabilities |
| D002869 | Chromosome Aberrations |
| D034381 | Hearing Loss |
| D009085 | Mucopolysaccharidosis IV |
| D000013 | Congenital Abnormalities |
| D008831 | Microcephaly |
| D058627 | Megalencephaly |
| ID | Term |
|---|---|
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D019954 | Neurobehavioral Manifestations |
| D009461 | Neurologic Manifestations |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D065886 | Neurodevelopmental Disorders |
| D001523 | Mental Disorders |
| D002659 | Child Development Disorders, Pervasive |
| D020879 | Neuromuscular Manifestations |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D003147 | Communication Disorders |
| D010335 | Pathologic Processes |
| D006311 | Hearing Disorders |
| D004427 | Ear Diseases |
| D010038 | Otorhinolaryngologic Diseases |
| D012678 | Sensation Disorders |
| D009083 | Mucopolysaccharidoses |
| D002239 | Carbohydrate Metabolism, Inborn Errors |
| D016464 | Lysosomal Storage Diseases |
| D017520 | Mucinoses |
| D003240 | Connective Tissue Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D019465 | Craniofacial Abnormalities |
| D009139 | Musculoskeletal Abnormalities |
| D009140 | Musculoskeletal Diseases |
| D065703 | Malformations of Cortical Development, Group I |
| D054220 | Malformations of Cortical Development |
| D009421 | Nervous System Malformations |
Not provided
Not provided
| Male |
|
| Did not answer |
|
| Asian |
|
| Black or African American |
|
| Native Hawaiian/Pacific Islander |
|
| White or European American |
|
| Middle Eastern or North African/Mediterranean |
|
| Hispanic/Latino(a) |
|
| Prefer not to answer |
|
| Unknown/none of these fully describe me |
|
| OG001 | Parent/Caregiver Pre-visit Prep + Usual Care | Dyads (parent/caregiver + child) that are randomized to the "pre-visit prep" arm receive a study packet with educational materials and a question prompt list. The parent/caregiver is instructed to review the materials, discuss them with family members if desired, use the question prompt list to select questions they would like to ask at clinic visit 1, and bring the list to the child's clinic visit 1 appointment. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
| OG002 | Parent/Caregiver No Pre-visit Prep + Exome | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "exome" arm are offered exome sequencing in addition to tests ordered by the physician at that visit. The parent/caregiver may decline for their child to have exome sequencing at this point. |
| OG003 | Parent/Caregiver No Pre-visit Prep + Usual Care | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
|
|
Dyads (parent/caregiver + child) that are randomized to the "pre-visit prep" arm receive a study packet with educational materials and a question prompt list. The parent/caregiver is instructed to review the materials, discuss them with family members if desired, use the question prompt list to select questions they would like to ask at clinic visit 1, and bring the list to the child's clinic visit 1 appointment. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
| OG002 | Parent/Caregiver No Pre-visit Prep + Exome | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "exome" arm are offered exome sequencing in addition to tests ordered by the physician at that visit. The parent/caregiver may decline for their child to have exome sequencing at this point. |
| OG003 | Parent/Caregiver No Pre-visit Prep + Usual Care | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
|
|
Dyads (parent/caregiver + child) that are randomized to the "pre-visit prep" arm receive a study packet with educational materials and a question prompt list. The parent/caregiver is instructed to review the materials, discuss them with family members if desired, use the question prompt list to select questions they would like to ask at clinic visit 1, and bring the list to the child's clinic visit 1 appointment. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
| OG002 | Parent/Caregiver No Pre-visit Prep + Exome | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "exome" arm are offered exome sequencing in addition to tests ordered by the physician at that visit. The parent/caregiver may decline for their child to have exome sequencing at this point. |
| OG003 | Parent/Caregiver No Pre-visit Prep + Usual Care | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
|
|
Dyads (parent/caregiver + child) that are randomized to the "pre-visit prep" arm receive a study packet with educational materials and a question prompt list. The parent/caregiver is instructed to review the materials, discuss them with family members if desired, use the question prompt list to select questions they would like to ask at clinic visit 1, and bring the list to the child's clinic visit 1 appointment. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
| OG002 | Parent/Caregiver No Pre-visit Prep + Exome | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "exome" arm are offered exome sequencing in addition to tests ordered by the physician at that visit. The parent/caregiver may decline for their child to have exome sequencing at this point. |
| OG003 | Parent/Caregiver No Pre-visit Prep + Usual Care | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
|
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| OG001 | Parent/Caregiver Pre-visit Prep + Usual Care | Dyads (parent/caregiver + child) that are randomized to the "pre-visit prep" arm receive a study packet with educational materials and a question prompt list. The parent/caregiver is instructed to review the materials, discuss them with family members if desired, use the question prompt list to select questions they would like to ask at clinic visit 1, and bring the list to the child's clinic visit 1 appointment. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
| OG002 | Parent/Caregiver No Pre-visit Prep + Exome | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "exome" arm are offered exome sequencing in addition to tests ordered by the physician at that visit. The parent/caregiver may decline for their child to have exome sequencing at this point. |
| OG003 | Parent/Caregiver No Pre-visit Prep + Usual Care | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
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| OG001 | Parent/Caregiver Pre-visit Prep + Usual Care | Dyads (parent/caregiver + child) that are randomized to the "pre-visit prep" arm receive a study packet with educational materials and a question prompt list. The parent/caregiver is instructed to review the materials, discuss them with family members if desired, use the question prompt list to select questions they would like to ask at clinic visit 1, and bring the list to the child's clinic visit 1 appointment. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
| OG002 | Parent/Caregiver No Pre-visit Prep + Exome | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "exome" arm are offered exome sequencing in addition to tests ordered by the physician at that visit. The parent/caregiver may decline for their child to have exome sequencing at this point. |
| OG003 | Parent/Caregiver No Pre-visit Prep + Usual Care | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
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| OG002 | Child No Pre-visit Prep + Exome | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "exome" arm are offered exome sequencing in addition to tests ordered by the physician at that visit. The parent/caregiver may decline for their child to have exome sequencing at this point. |
| OG003 | Child No Pre-visit Prep + Usual Care | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
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| OG002 | Child No Pre-visit Prep + Exome | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "exome" arm are offered exome sequencing in addition to tests ordered by the physician at that visit. The parent/caregiver may decline for their child to have exome sequencing at this point. |
| OG003 | Child No Pre-visit Prep + Usual Care | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
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| OG002 | No Pre-visit Prep + Exome | Participants randomized to the no pre-visit preparation arm will receive a mailed card reminding them about their upcoming clinic visit. After completing the clinic visit, participants are randomized to be offered exome sequencing in addition to the usual care they receive as part of their clinical evaluation. Parents may decline for their child to have exome sequencing at this point. |
| OG003 | No Pre-visit Prep + Usual Care | Participants randomized to the no pre-visit preparation arm will receive a mailed card reminding them about their upcoming clinic visit. After completing the clinic visit, participants are randomized to receive usual care as part of their clinical evaluation. |
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| OG002 | No Pre-visit Prep + Exome | Participants randomized to the no pre-visit preparation arm will receive a mailed card reminding them about their upcoming clinic visit. After completing the clinic visit, participants are randomized to be offered exome sequencing in addition to the usual care they receive as part of their clinical evaluation. Parents may decline for their child to have exome sequencing at this point. |
| OG003 | No Pre-visit Prep + Usual Care | Participants randomized to the no pre-visit preparation arm will receive a mailed card reminding them about their upcoming clinic visit. After completing the clinic visit, participants are randomized to receive usual care as part of their clinical evaluation. |
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| OG002 | Child No Pre-visit Prep + Exome | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "exome" arm are offered exome sequencing in addition to tests ordered by the physician at that visit. The parent/caregiver may decline for their child to have exome sequencing at this point. |
| OG003 | Child No Pre-visit Prep + Usual Care | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
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| OG002 | Child No Pre-visit Prep + Exome | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "exome" arm are offered exome sequencing in addition to tests ordered by the physician at that visit. The parent/caregiver may decline for their child to have exome sequencing at this point. |
| OG003 | Child No Pre-visit Prep + Usual Care | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
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| OG002 | Child No Pre-visit Prep + Exome | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "exome" arm are offered exome sequencing in addition to tests ordered by the physician at that visit. The parent/caregiver may decline for their child to have exome sequencing at this point. |
| OG003 | Child No Pre-visit Prep + Usual Care | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
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| OG002 | Child No Pre-visit Prep + Exome | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "exome" arm are offered exome sequencing in addition to tests ordered by the physician at that visit. The parent/caregiver may decline for their child to have exome sequencing at this point. |
| OG003 | Child No Pre-visit Prep + Usual Care | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
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| OG002 | Child No Pre-visit Prep + Exome | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "exome" arm are offered exome sequencing in addition to tests ordered by the physician at that visit. The parent/caregiver may decline for their child to have exome sequencing at this point. |
| OG003 | Child No Pre-visit Prep + Usual Care | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
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| OG002 | Child No Pre-visit Prep + Exome | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "exome" arm are offered exome sequencing in addition to tests ordered by the physician at that visit. The parent/caregiver may decline for their child to have exome sequencing at this point. |
| OG003 | Child No Pre-visit Prep + Usual Care | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
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| OG002 | Child No Pre-visit Prep + Exome | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "exome" arm are offered exome sequencing in addition to tests ordered by the physician at that visit. The parent/caregiver may decline for their child to have exome sequencing at this point. |
| OG003 | Child No Pre-visit Prep + Usual Care | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
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| OG002 | Child No Pre-visit Prep + Exome | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "exome" arm are offered exome sequencing in addition to tests ordered by the physician at that visit. The parent/caregiver may decline for their child to have exome sequencing at this point. |
| OG003 | Child No Pre-visit Prep + Usual Care | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
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Dyads (parent/caregiver + child) that are randomized to the "pre-visit prep" arm receive a study packet with educational materials and a question prompt list. The parent/caregiver is instructed to review the materials, discuss them with family members if desired, use the question prompt list to select questions they would like to ask at clinic visit 1, and bring the list to the child's clinic visit 1 appointment.
During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing.
| OG002 | Parent/Caregiver No Pre-visit Prep + Exome | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "exome" arm are offered exome sequencing in addition to tests ordered by the physician at that visit. The parent/caregiver may decline for their child to have exome sequencing at this point. |
| OG003 | Parent/Caregiver No Pre-visit Prep + Usual Care | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
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Dyads (parent/caregiver + child) that are randomized to the "pre-visit prep" arm receive a study packet with educational materials and a question prompt list. The parent/caregiver is instructed to review the materials, discuss them with family members if desired, use the question prompt list to select questions they would like to ask at clinic visit 1, and bring the list to the child's clinic visit 1 appointment. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
| OG002 | Parent/Caregiver No Pre-visit Prep + Exome | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "exome" arm are offered exome sequencing in addition to tests ordered by the physician at that visit. The parent/caregiver may decline for their child to have exome sequencing at this point. |
| OG003 | Parent/Caregiver No Pre-visit Prep + Usual Care | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
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Dyads (parent/caregiver + child) that are randomized to the "pre-visit prep" arm receive a study packet with educational materials and a question prompt list. The parent/caregiver is instructed to review the materials, discuss them with family members if desired, use the question prompt list to select questions they would like to ask at clinic visit 1, and bring the list to the child's clinic visit 1 appointment. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
| OG002 | Parent/Caregiver No Pre-visit Prep + Exome | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "exome" arm are offered exome sequencing in addition to tests ordered by the physician at that visit. The parent/caregiver may decline for their child to have exome sequencing at this point. |
| OG003 | Parent/Caregiver No Pre-visit Prep + Usual Care | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
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Dyads (parent/caregiver + child) that are randomized to the "pre-visit prep" arm receive a study packet with educational materials and a question prompt list. The parent/caregiver is instructed to review the materials, discuss them with family members if desired, use the question prompt list to select questions they would like to ask at clinic visit 1, and bring the list to the child's clinic visit 1 appointment.
During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing.
| OG002 | Parent/Caregiver No Pre-visit Prep + Exome | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "exome" arm are offered exome sequencing in addition to tests ordered by the physician at that visit. The parent/caregiver may decline for their child to have exome sequencing at this point. |
| OG003 | Parent/Caregiver No Pre-visit Prep + Usual Care | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
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Dyads (parent/caregiver + child) that are randomized to the "pre-visit prep" arm receive a study packet with educational materials and a question prompt list. The parent/caregiver is instructed to review the materials, discuss them with family members if desired, use the question prompt list to select questions they would like to ask at clinic visit 1, and bring the list to the child's clinic visit 1 appointment. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
| OG002 | Parent/Caregiver No Pre-visit Prep + Exome | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "exome" arm are offered exome sequencing in addition to tests ordered by the physician at that visit. The parent/caregiver may decline for their child to have exome sequencing at this point. |
| OG003 | Parent/Caregiver No Pre-visit Prep + Usual Care | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
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Dyads (parent/caregiver + child) that are randomized to the "pre-visit prep" arm receive a study packet with educational materials and a question prompt list. The parent/caregiver is instructed to review the materials, discuss them with family members if desired, use the question prompt list to select questions they would like to ask at clinic visit 1, and bring the list to the child's clinic visit 1 appointment.
During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing.
| OG002 | Parent/Caregiver No Pre-visit Prep + Exome | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "exome" arm are offered exome sequencing in addition to tests ordered by the physician at that visit. The parent/caregiver may decline for their child to have exome sequencing at this point. |
| OG003 | Parent/Caregiver No Pre-visit Prep + Usual Care | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
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| Parent/Caregiver Pre-visit Prep + Usual Care |
Dyads (parent/caregiver + child) that are randomized to the "pre-visit prep" arm receive a study packet with educational materials and a question prompt list. The parent/caregiver is instructed to review the materials, discuss them with family members if desired, use the question prompt list to select questions they would like to ask at clinic visit 1, and bring the list to the child's clinic visit 1 appointment. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
| OG002 | Parent/Caregiver No Pre-visit Prep + Exome | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "exome" arm are offered exome sequencing in addition to tests ordered by the physician at that visit. The parent/caregiver may decline for their child to have exome sequencing at this point. |
| OG003 | Parent/Caregiver No Pre-visit Prep + Usual Care | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
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Dyads (parent/caregiver + child) that are randomized to the "pre-visit prep" arm receive a study packet with educational materials and a question prompt list. The parent/caregiver is instructed to review the materials, discuss them with family members if desired, use the question prompt list to select questions they would like to ask at clinic visit 1, and bring the list to the child's clinic visit 1 appointment. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
| OG002 | Parent/Caregiver No Pre-visit Prep + Exome | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "exome" arm are offered exome sequencing in addition to tests ordered by the physician at that visit. The parent/caregiver may decline for their child to have exome sequencing at this point. |
| OG003 | Parent/Caregiver No Pre-visit Prep + Usual Care | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
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Dyads (parent/caregiver + child) that are randomized to the "pre-visit prep" arm receive a study packet with educational materials and a question prompt list. The parent/caregiver is instructed to review the materials, discuss them with family members if desired, use the question prompt list to select questions they would like to ask at clinic visit 1, and bring the list to the child's clinic visit 1 appointment. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
| OG002 | Parent/Caregiver No Pre-visit Prep + Exome | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "exome" arm are offered exome sequencing in addition to tests ordered by the physician at that visit. The parent/caregiver may decline for their child to have exome sequencing at this point. |
| OG003 | Parent/Caregiver No Pre-visit Prep + Usual Care | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
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| Parent/Caregiver No Pre-visit Prep + Exome |
Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "exome" arm are offered exome sequencing in addition to tests ordered by the physician at that visit. The parent/caregiver may decline for their child to have exome sequencing at this point. |
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| OG001 | Parent/Caregiver Pre-visit Prep + Usual Care | Dyads (parent/caregiver + child) that are randomized to the "pre-visit prep" arm receive a study packet with educational materials and a question prompt list. The parent/caregiver is instructed to review the materials, discuss them with family members if desired, use the question prompt list to select questions they would like to ask at clinic visit 1, and bring the list to the child's clinic visit 1 appointment. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
| OG002 | Parent/Caregiver No Pre-visit Prep + Exome | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "exome" arm are offered exome sequencing in addition to tests ordered by the physician at that visit. The parent/caregiver may decline for their child to have exome sequencing at this point. |
| OG003 | Parent/Caregiver No Pre-visit Prep + Usual Care | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
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| OG001 | Parent/Caregiver Pre-visit Prep + Usual Care | Dyads (parent/caregiver + child) that are randomized to the "pre-visit prep" arm receive a study packet with educational materials and a question prompt list. The parent/caregiver is instructed to review the materials, discuss them with family members if desired, use the question prompt list to select questions they would like to ask at clinic visit 1, and bring the list to the child's clinic visit 1 appointment. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
| OG002 | Parent/Caregiver No Pre-visit Prep + Exome | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "exome" arm are offered exome sequencing in addition to tests ordered by the physician at that visit. The parent/caregiver may decline for their child to have exome sequencing at this point. |
| OG003 | Parent/Caregiver No Pre-visit Prep + Usual Care | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
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| Parent/Caregiver Pre-visit Prep + Usual Care |
Dyads (parent/caregiver + child) that are randomized to the "pre-visit prep" arm receive a study packet with educational materials and a question prompt list. The parent/caregiver is instructed to review the materials, discuss them with family members if desired, use the question prompt list to select questions they would like to ask at clinic visit 1, and bring the list to the child's clinic visit 1 appointment. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
| OG002 | Parent/Caregiver No Pre-visit Prep + Exome | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "exome" arm are offered exome sequencing in addition to tests ordered by the physician at that visit. The parent/caregiver may decline for their child to have exome sequencing at this point. |
| OG003 | Parent/Caregiver No Pre-visit Prep + Usual Care | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
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| OG002 | Child No Pre-visit Prep + Exome | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "exome" arm are offered exome sequencing in addition to tests ordered by the physician at that visit. The parent/caregiver may decline for their child to have exome sequencing at this point. |
| OG003 | Child No Pre-visit Prep + Usual Care | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
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| OG002 | Child No Pre-visit Prep + Exome | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "exome" arm are offered exome sequencing in addition to tests ordered by the physician at that visit. The parent/caregiver may decline for their child to have exome sequencing at this point. |
| OG003 | Child No Pre-visit Prep + Usual Care | Dyads (parent/caregiver + child) that are randomized to the "no pre-visit prep" arm receive a mailed card reminding them about their upcoming clinic visit. During the clinic visit 1 evaluation, the physician orders any tests deemed clinically appropriate. After completing the clinic visit, dyads that are randomized to the "usual care" arm are not offered additional exome sequencing. |
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