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| ID | Type | Description | Link |
|---|---|---|---|
| 1UM1HG007292-01 | U.S. NIH Grant/Contract | View source |
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| Name | Class |
|---|---|
| National Human Genome Research Institute (NHGRI) | NIH |
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This study is conducting a randomized controlled trial (RCT) with up to 400 subjects (women & partners) seeking pre-conception carrier testing to assess the impact of the program using Whole Genome Sequencing (WGS).
Project 1-Clinical Intervention and Outcomes Aim 1: To conduct a randomized controlled trial (RCT) with up to 400 subjects (women & partners) seeking pre-conception carrier testing to assess the impact of the program using Whole Genome Sequencing (WGS).
Aim 2: To develop processes for delivering information from WGS directly into the patient's electronic medical record, and establish innovative reporting strategies that are informative for clinicians and couples acting on this information.
Aim 3: To measure for the integration of sequence information in clinical care for both carrier status and secondary findings including:
Project 2 -WGS technology, informatics, and Return of Results Committee (RORC)
Aim 1: To generate whole genome sequence and interpret variants on samples randomized from the Kaiser Permanente Northwest (KPNW) preconception carrier screening cohort.
Aim 2: To develop and implement a return of results committee (RORC) that incorporates evidence to assess criteria for reporting carrier status for reproductive decision making and secondary findings.
Project 3 - Ethical and Psychosocial Implications
Aim 1: To evaluate, patient and clinical perspectives on informational needs, satisfaction, knowledge, and decision-making relating to the choice to obtain results of carrier status from WGS in four categories of genetic conditions.
Aim 2: To evaluate, from patient and clinician perspectives, the immediate and downstream ethical, psychosocial, and behavioral consequences of expanded carrier screening using WGS.
Aim 3: To evaluate the impact of expanded carrier test using WGS on subsequent health care utilization, and to compare the cost of delivery WGS to usual care.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Usual care | Active Comparator | Requested carrier status testing. |
|
| Whole Genome Sequencing | Experimental | These participants will receive the carrier status testing they requested from their provider, plus whole genome sequencing. |
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Whole Genome Sequencing | Genetic | Participants will receive Whole Genome Sequencing |
|
| Measure | Description | Time Frame |
|---|---|---|
| Number of Patients That Receive Carrier Testing and Have Results to Return | The investigators will record the number of patients that have both single carrier status testing (usual care) and WGS testing and track how many patients have results to return. | Assessed annually for 4 years, data at the end of the study reported. |
| Measure | Description | Time Frame |
|---|---|---|
| Patient Satisfaction | Through surveys, interviews, and observations with patients, the investigators will assess their satisfaction with the testing and return of results process. | Assessed annually for 4 years, data at the end of Year 3 reported. |
| Measure | Description | Time Frame |
|---|---|---|
| Healthcare Utilization | The investigators will evaluate if expanded carrier testing using WGS causes an increase in subsequent health care utilization compared to usual care (typically just cystic fibrosis carrier testing). | The end of Year 4 |
Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Katrina Goddard, PhD | Kaiser Permanente | Principal Investigator |
| Benjamin Wilfond, MD | Seattle Children's Hospital | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Kaiser Permanente Northwest | Portland | Oregon | 97227 | United States |
Genome sequencing data is shared with dbGaP, and variants are shared with Clinvar.
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Ongoing
Request to dbGaP
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One person consented, but then immediately declined while doing the baseline survey, so she was never randomized.
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| ID | Title | Description |
|---|---|---|
| FG000 | Usual Care | Requested carrier status testing. Carrier status testing: Carrier status testing |
| FG001 | Whole Genome Sequencing | These participants will receive the carrier status testing they requested from their provider, plus whole genome sequencing. Whole Genome Sequencing: Participants will receive Whole Genome Sequencing Carrier status testing: Carrier status testing |
| Title | Milestones | Reasons Not Completed | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Overall Study |
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381 participants completed the baseline survey and had data for analysis. One person in the usual care arm did not complete the baseline survey, and one person in the whole genome sequencing arm completed the baseline survey and then disenrolled from the study a few months later.
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| ID | Title | Description |
|---|---|---|
| BG000 | Usual Care | Requested carrier status testing. Carrier status testing: Carrier status testing |
| BG001 | Whole Genome Sequencing | These participants will receive the carrier status testing they requested from their provider, plus whole genome sequencing. Whole Genome Sequencing: Participants will receive Whole Genome Sequencing Carrier status testing: Carrier status testing |
| Units | Counts |
|---|---|
| Participants |
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| Title | Description | Population Description | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Denominator Units Selected | Denominators | Classes |
|---|---|---|---|---|---|---|---|---|---|
| Age, Categorical | Online survey conducted at the consent visit |
| 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 | Number of Patients That Receive Carrier Testing and Have Results to Return | The investigators will record the number of patients that have both single carrier status testing (usual care) and WGS testing and track how many patients have results to return. | All consented participants, including male partners. | Posted | Count of Participants | Participants | Assessed annually for 4 years, data at the end of the study reported. |
|
4 years
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| ID | Title | Description | Deaths (Affected) | Deaths (At Risk) | Serious Events (Affected) | Serious Events (At Risk) | Other Events (Affected) | Other Events (At Risk) |
|---|---|---|---|---|---|---|---|---|
| EG000 | Usual Care | Requested carrier status testing. Carrier status testing: Carrier status testing |
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| Title | Organization | Phone | Extension | |
|---|---|---|---|---|
| Katrina Goddard | Kaiser Permanente Center for Health Research | 503-335-6353 | katrina.ab.goddard@kpchr.org |
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| ID | Term |
|---|---|
| D030342 | Genetic Diseases, Inborn |
| ID | Term |
|---|---|
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
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| ID | Term |
|---|---|
| D000073336 | Whole Genome Sequencing |
| ID | Term |
|---|---|
| D017422 | Sequence Analysis, DNA |
| D017421 | Sequence Analysis |
| D005821 | Genetic Techniques |
| D008919 | Investigative Techniques |
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| Carrier status testing | Genetic | Carrier status testing |
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| BG002 | Total | Total of all reporting groups |
| Count of Participants |
| Participants |
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| Age, Continuous | Mean | Standard Deviation | years |
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| Sex: Female, Male | Count of Participants | Participants |
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| Ethnicity (NIH/OMB) | Count of Participants | Participants |
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| Race (NIH/OMB) | Count of Participants | Participants |
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| Region of Enrollment | Number | participants |
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| Secondary | Patient Satisfaction | Through surveys, interviews, and observations with patients, the investigators will assess their satisfaction with the testing and return of results process. | Participants in the usual care arm don't complete satisfaction surveys. Results are WGS arm participants who received genetic testing carrier results in person and reported understanding the information | Posted | Count of Participants | Participants | Assessed annually for 4 years, data at the end of Year 3 reported. |
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| Other Pre-specified | Healthcare Utilization | The investigators will evaluate if expanded carrier testing using WGS causes an increase in subsequent health care utilization compared to usual care (typically just cystic fibrosis carrier testing). | This data was reported at the end of year 4 for all participants that had at least 6 months of follow-up data. | Posted | Mean | Standard Deviation | Face to face medical encounters | The end of Year 4 |
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| 0 |
| 180 |
| 0 |
| 180 |
| 0 |
| 180 |
| EG001 | Whole Genome Sequencing | These participants will receive the carrier status testing they requested from their provider, plus whole genome sequencing. Whole Genome Sequencing: Participants will receive Whole Genome Sequencing Carrier status testing: Carrier status testing | 0 | 203 | 0 | 203 | 0 | 203 |
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