Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants (NCT05161169) | Clinical Trial Compass
CompletedNot Applicable
Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants
United States500 participantsStarted 2022-12-21
Plain-language 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.
Who can participate
Age range
0 Months – 12 Months
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
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
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Monogenic disease risks (MDRs)
Timeframe: 3 months after enrollment
2
Carrier status variants
Timeframe: 3 months after enrollment
3
MDR-associated phenotype
Timeframe: 3 months after enrollment and 1-year post-disclosure (15 months after enrollment)
4
Parenting stress, relationship dysfunction
Timeframe: Baseline, post-disclosure (3 months after enrollment), 6 months post-disclosure (9 months after enrollment)
5
Relationship satisfaction
Timeframe: Baseline, post-disclosure (3 months after enrollment), 6 months post-disclosure (9 months after enrollment)
6
General anxiety
Timeframe: Baseline, post-disclosure (3 months after enrollment), 6 months post-disclosure (9 months after enrollment)