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Clinical Trial Details — Status: Recruiting

Administrative data

NCT number NCT05161169
Other study ID # The BabySeq2 Project
Secondary ID
Status Recruiting
Phase N/A
First received
Last updated
Start date December 21, 2022
Est. completion date July 1, 2025

Study information

Verified date May 2024
Source Brigham and Women's Hospital
Contact Bethany Zettler, MS, CGC
Phone (617) 264-5884
Email bzettler@bwh.harvard.edu
Is FDA regulated No
Health authority
Study type Interventional

Clinical Trial Summary

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.


Description:

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.


Recruitment information / eligibility

Status Recruiting
Enrollment 500
Est. completion date July 1, 2025
Est. primary completion date February 1, 2025
Accepts healthy volunteers Accepts Healthy Volunteers
Gender All
Age group 0 Months to 12 Months
Eligibility Inclusion Criteria: Infant participants - Has not previously had exome or genome sequencing - Age 0-12 months - Seen for well-baby pediatric care at a recruiting site - Primary healthcare provider completed the genomics education program - At least one parent or guardian able to participate in the study Parent participants - Biological parent or legal guardian of an infant participating in the study - 18 years of age or older - Unimpaired decision-making capacity - English or Spanish speaking - Available to have genetic counseling and provide consent for testing the infant Exclusion Criteria: - Parents are unwilling to have genomic reports placed in the medical record or sent to their primary care pediatrician - Any infant in which clinical considerations preclude collecting blood via heel stick

Study Design


Related Conditions & MeSH terms


Intervention

Genetic:
Genome Sequencing
20 times read depth (20x) next-generation whole genome sequencing with comprehensive analysis.

Locations

Country Name City State
United States University of Alabama at Birmingham Birmingham Alabama
United States Boston Children's Hospital Boston Massachusetts
United States Icahn School of Medicine at Mount Sinai New York New York
United States Beaumont - Corewell Health East Royal Oak Michigan

Sponsors (13)

Lead Sponsor Collaborator
Brigham and Women's Hospital Baylor College of Medicine, Boston Children's Hospital, Broad Institute, Dartmouth-Hitchcock Medical Center, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), Harvard Pilgrim Health Care, Howard University, HudsonAlpha Institute for Biotechnology, Icahn School of Medicine at Mount Sinai, Massachusetts General Hospital, National Center for Advancing Translational Sciences (NCATS), University of Alabama at Birmingham

Country where clinical trial is conducted

United States, 

Outcome

Type Measure Description Time frame Safety issue
Other 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)
Other Cost of genomic services Cost of genetic services infants and parents received after study disclosure session 6 months post-disclosure (9 months after enrollment)
Other 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)
Primary 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
Primary Carrier status variants P and LP variants identified as recessive carrier status in infant 3 months after enrollment
Primary 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)
Primary 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)
Primary 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)
Primary General anxiety General Anxiety Disorder-7 Baseline, post-disclosure (3 months after enrollment), 6 months post-disclosure (9 months after enrollment)
Secondary 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)
Secondary Intervention prompted by genetic or family history report Healthcare intervention prompted by MDR or recessive carrier variant 6 months post-disclosure (9 months after enrollment)
Secondary 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)
Secondary 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)
Secondary 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)
Secondary Partner blame Novel item (higher scores indicate increased blame) Baseline, post-disclosure (3 months after enrollment), 6 months post-disclosure (9 months after enrollment)
Secondary General depression Patient Health Questionnaire (PHQ)-8 Baseline, post-disclosure (3 months after enrollment), 6 months post-disclosure (9 months after enrollment)
Secondary Self blame Novel item (higher scores indicate increased blame) Baseline, post-disclosure (3 months after enrollment), 6 months post-disclosure (9 months after enrollment)
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