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

Description

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.

Conditions

Genetic Predisposition to Disease, Hereditary Diseases

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Study Overview

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Study Details

Study overview

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.

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

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

Condition
Genetic Predisposition to Disease
Intervention / Treatment

-

Contacts and Locations

Birmingham

University of Alabama at Birmingham, Birmingham, Alabama, United States, 35294

Boston

Boston Children's Hospital, Boston, Massachusetts, United States, 02115

Royal Oak

Beaumont - Corewell Health East, Royal Oak, Michigan, United States, 48073

New York

Icahn School of Medicine at Mount Sinai, New York, New York, United States, 10029

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • * 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
  • * 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
  • * 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

Ages Eligible for Study

0 Months to 12 Months

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

Yes

Collaborators and Investigators

Brigham and Women's Hospital,

Robert C. Green, MD, MPH, PRINCIPAL_INVESTIGATOR, Brigham and Women's Hospital

Ingrid A. Holm, MD, MPH, PRINCIPAL_INVESTIGATOR, Boston Children's Hospital

Study Record Dates

2025-07-01