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