Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants

ID#: NCT05161169

Age: 0 - 12 months

Gender: All

Healthy Subjects: Accepts Healthy Volunteers

Study Phase: N/A

Recruitment Status: Recruiting

Start Date: July 01, 2021

End Date: July 01, 2025

Contact Information:
Bethany Zettler, MS, CGC
(617) 264-5884
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.

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