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

Launched by BRIGHAM AND WOMEN'S HOSPITAL · Dec 3, 2021

Keywords

ClinConnect Summary

This clinical trial is studying the use of whole genome sequencing, a type of genetic testing, to check for health risks in healthy newborns. Researchers want to see if this technology can help identify potential genetic predispositions to diseases early on. They plan to enroll 500 healthy infants from diverse areas, including Boston, New York City, and Birmingham. A small blood sample will be taken from each baby, and half of the participants will undergo the genetic testing. After three months, parents and pediatricians will receive the results, allowing them to understand any health risks and how to manage them.

To participate, infants must be under 12 months old, have never had genetic testing before, and have been seen for routine check-ups at a participating clinic. Parents or guardians need to be at least 18 years old, speak English or Spanish, and be willing to participate in genetic counseling. If you join the study, you can expect to provide a blood sample for testing and receive important information about your child’s health. This trial aims to explore how genomic sequencing can be used effectively in regular pediatric care to improve health outcomes for children.

Gender

ALL

Eligibility criteria

• 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