Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants (1U01TR003201-01A1)

Status: Not yet recruiting
Location: See all (3) locations...
Intervention Type: Genetic
Study Type: Interventional
Study Phase: Not Applicable
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.

Eligibility
Participation Requirements
Sex: All
Maximum Age: 6 months
Healthy Volunteers: Accepts Healthy Volunteers
View:

• Infant participants

• Apparently healthy (not suspected to have a genetic condition, and not exhibiting symptoms consistent with an infection or other transient illness)

• Age 0-6 months (chronological or adjusted age)

• 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 or rearing parent or guardian of an infant participating in the study (Rearing parent is an individual who is not biologically related to the infant, but who is dedicated to raising the child)

• 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

Locations
United States
Alabama
University of Alabama at Birmingham
Birmingham
Massachusetts
Boston Children's Hospital
Boston
New York
Icahn School of Medicine at Mount Sinai
New York
Contact Information
Primary
Bethany Zettler, MS, CGC
bzettler@bwh.harvard.edu
(617) 264-5884
Backup
Sheyenne Walmsley, MS, GC
swalmsley@bwh.harvard.edu
Time Frame
Start Date: February 1, 2022
Estimated Completion Date: July 1, 2025
Participants
Target number of participants: 500
Treatments
Experimental: Sequencing cohort
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.
No Intervention: Control cohort
Infants receive a detailed family history report plus standard well-child care.
Authors
Ingrid A. Holm, Robert C. Green
Sponsors
Collaborators: National Center for Advancing Translational Sciences (NCATS), Harvard Pilgrim Health Care, HudsonAlpha Institute for Biotechnology, Massachusetts General Hospital, Baylor College of Medicine, University of Alabama at Birmingham, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), Broad Institute, Boston Children's Hospital, Icahn School of Medicine at Mount Sinai, Dartmouth-Hitchcock Medical Center, Howard University
Leads: Brigham and Women's Hospital

This content was sourced from clinicaltrials.gov

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