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| Name | Class |
|---|---|
| Baylor College of Medicine | OTHER |
| Boston Children's Hospital | OTHER |
| Broad Institute of MIT and Harvard | OTHER |
| Dartmouth-Hitchcock Medical Center |
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This research study is exploring the use of genomic sequencing in the newborn period to screen healthy babies for current and future health risks. The study will enroll a diverse cohort of 500 healthy infants and their parents from Boston, MA; New York City, NY; and Birmingham, AL. A small blood sample will be collected from each infant, and whole genome sequencing will be performed in 1/2 of the cohort following a randomized controlled trial design. 3 months later, the randomization status and sequencing results will be shared with parents and pediatricians. Investigators will study the medical, behavioral, and economic outcomes of genomic sequencing to better understand how this technology can be implemented in outpatient primary care settings.
The objective of this research protocol is to assess the impacts of genomic sequencing in healthy infants from ethnically and racially diverse communities as part of routine pediatric care.
Investigators will enroll a cohort of 500 healthy, ethnically and racially diverse infants from Boston, Massachusetts; New York City, New York; and Birmingham, Alabama, with planned expansion to other U.S. cities and recruitment sites. As part of this study, a stakeholder board comprised of diverse community members will provide early and regular feedback throughout the study on anticipated and ongoing community reaction to the work with sensitivity to historical injustices and cultural diversity
Primary care pediatricians from each recruitment site will be enrolled for a brief genomics education curriculum. Only infants whose healthcare providers have joined the study will be enrolled.
A small blood sample will be obtained from each enrolled infant. Participants will randomized (1:1) to receive either a family history report or a family history report plus whole genome sequencing.
Genome sequencing data will be analyzed for pathogenic and likely pathogenic variants in genes associated with childhood-onset disease risks, as well as highly actionable adult-onset disease risks. If infants have a dominant risk identified, parents may choose to be screened as part of the study.
The study team will disclose the infant's randomization status and study results during a consultation with each family, and results will be sent to the infant's pediatrician.
Parents will be surveyed at three time points over the 12 months after enrollment: baseline, immediately post-disclosure (approximately 3 months after enrollment), and 6 months post-disclosure. Surveys will assess psychosocial impacts of newborn sequencing.
Chart reviews will be performed to assess the medical outcomes and healthcare utilization costs of newborn genome sequencing.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Sequencing cohort | Experimental | Infants receive genome sequencing with analysis of approximately 1000 genes associated with childhood-onset and highly actionable adult-onset disease risks. Pathogenic and likely pathogenic variants are reported to the child's parents and pediatrician. Participants also receive a detailed family history report and standard well-child care. |
|
| Control cohort | No Intervention | Infants receive a detailed family history report plus standard well-child care. |
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Genome Sequencing | Genetic | 20 times read depth (20x) next-generation whole genome sequencing with comprehensive analysis. |
|
| Measure | Description | Time Frame |
|---|---|---|
| Monogenic disease risks (MDRs) | Pathogenic (P) and likely pathogenic (LP) variants identified relevant to infant's health (dominant or biallelic recessive disease risks) | 3 months after enrollment |
| Carrier status variants | P and LP variants identified as recessive carrier status in infant | 3 months after enrollment |
| MDR-associated phenotype | Signs or symptoms of monogenic disease risk identified by genome sequencing | 3 months after enrollment and 1-year post-disclosure (15 months after enrollment) |
| Parenting stress, relationship dysfunction | Parenting Stress Index, 4th Edition Short Form (scored as a percentile 0 - 100%, higher scores indicate increased stress) | Baseline, post-disclosure (3 months after enrollment), 6 months post-disclosure (9 months after enrollment) |
| Relationship satisfaction | Kansas Marital Satisfaction Scale (Scored 3 to 21, higher scores indicate better marital quality) | Baseline, post-disclosure (3 months after enrollment), 6 months post-disclosure (9 months after enrollment) |
| General anxiety | General Anxiety Disorder-7 | Baseline, post-disclosure (3 months after enrollment), 6 months post-disclosure (9 months after enrollment) |
| Measure | Description | Time Frame |
|---|---|---|
| MDR-associated family history | Signs or symptoms of monogenic disease risk or recessive condition present in infant's biological family | 3 months after enrollment and 1-year post-disclosure (15 months after enrollment) |
| Intervention prompted by genetic or family history report |
| Measure | Description | Time Frame |
|---|---|---|
| Cost of attributable services | Cost of health care services associated with surveillance and diagnosis of GS and family history risks | 6 months post-disclosure (9 months after enrollment) |
| Cost of genomic services |
Inclusion Criteria:
Infant participants
Parent participants
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Robert C. Green, MD, MPH | Brigham and Women's Hospital | Principal Investigator |
| Ingrid A. Holm, MD, MPH | Boston Children's Hospital | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of Alabama at Birmingham | Birmingham | Alabama | 35294 | United States | ||
| Boston Children's Hospital |
The study protocol and statistical analysis plan will be shared on clinical trials.gov
Supporting information will be shared 6 months after study completion.
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| Type | Includes Protocol | Includes SAP | Includes ICF | Document Label | Document Date | Document Uploaded Date | Document File Name |
|---|---|---|---|---|---|---|---|
| Prot_SAP | Yes | Yes | No | Study Protocol and Statistical Analysis Plan | Nov 29, 2023 | May 14, 2024 | Prot_SAP_000.pdf |
| ICF | No | No | Yes | Informed Consent Form | Sep 22, 2025 | Mar 4, 2026 | ICF_001.pdf |
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| Release Date | Unrelease Date | Unrelease Date Unknown | Reset Date | MCP Release Number |
|---|---|---|---|---|
| Jun 16, 2026 |
| ID | Term |
|---|---|
| D020022 | Genetic Predisposition to Disease |
| D030342 | Genetic Diseases, Inborn |
| ID | Term |
|---|---|
| D004198 | Disease Susceptibility |
| D020969 | Disease Attributes |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
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| OTHER |
| Harvard Pilgrim Health Care | OTHER |
| Howard University | OTHER |
| HudsonAlpha Institute for Biotechnology | OTHER |
| Massachusetts General Hospital | OTHER |
| Icahn School of Medicine at Mount Sinai | OTHER |
| University of Alabama at Birmingham | OTHER |
| National Center for Advancing Translational Sciences (NCATS) | NIH |
| Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) | NIH |
Randomized controlled trial (control group vs. genome sequencing intervention)
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Healthcare intervention prompted by MDR or recessive carrier variant |
| 6 months post-disclosure (9 months after enrollment) |
| Suspected genetic condition | Any phenotype that develops in an infant or a family history suspected to have a genetic cause | 6 months post-disclosure (9 months after enrollment) |
| Child vulnerability | Vulnerable Baby Scale (scored 0-50, higher scores indicate increased perceptions of child vulnerability) | Baseline, post-disclosure (3 months after enrollment), 6 months post-disclosure (9 months after enrollment) |
| Feelings about genomic testing | Feelings About genomiC Testing Results (FACToR) Questionnaire | Baseline, post-disclosure (3 months after enrollment), 6 months post-disclosure (9 months after enrollment) |
| Partner blame | Novel item (higher scores indicate increased blame) | Baseline, post-disclosure (3 months after enrollment), 6 months post-disclosure (9 months after enrollment) |
| General depression | Patient Health Questionnaire (PHQ)-8 | Baseline, post-disclosure (3 months after enrollment), 6 months post-disclosure (9 months after enrollment) |
| Self blame | Novel item (higher scores indicate increased blame) | Baseline, post-disclosure (3 months after enrollment), 6 months post-disclosure (9 months after enrollment) |
Cost of genetic services infants and parents received after study disclosure session
| 6 months post-disclosure (9 months after enrollment) |
| All healthcare costs | All health sector costs observed in medical records and survey questions regarding family out-of-pocket expenses | 6 months post-disclosure (9 months after enrollment) |
| Boston |
| Massachusetts |
| 02115 |
| United States |
| Beaumont - Corewell Health East | Royal Oak | Michigan | 48073 | United States |
| Icahn School of Medicine at Mount Sinai | New York | New York | 10029 | United States |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |