RECRUITING

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

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

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.

Official Title

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

Quick Facts

Study Start:2022-12-21
Study Completion:2025-07-01
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT05161169

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.

Ages Eligible for Study:0 Months to 12 Months
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:Yes
Standard Ages:CHILD
Inclusion CriteriaExclusion Criteria
  1. * Has not previously had exome or genome sequencing
  2. * Age 0-12 months
  3. * Seen for well-baby pediatric care at a recruiting site
  4. * Primary healthcare provider completed the genomics education program
  5. * At least one parent or guardian able to participate in the study
  6. * Biological parent or legal guardian of an infant participating in the study
  7. * 18 years of age or older
  8. * Unimpaired decision-making capacity
  9. * English or Spanish speaking
  10. * Available to have genetic counseling and provide consent for testing the infant
  1. * Parents are unwilling to have genomic reports placed in the medical record or sent to their primary care pediatrician
  2. * Any infant in which clinical considerations preclude collecting blood via heel stick

Contacts and Locations

Study Contact

Bethany Zettler, MS, CGC
CONTACT
(617) 264-5884
bzettler@bwh.harvard.edu

Principal Investigator

Robert C. Green, MD, MPH
PRINCIPAL_INVESTIGATOR
Brigham and Women's Hospital
Ingrid A. Holm, MD, MPH
PRINCIPAL_INVESTIGATOR
Boston Children's Hospital

Study Locations (Sites)

University of Alabama at Birmingham
Birmingham, Alabama, 35294
United States
Boston Children's Hospital
Boston, Massachusetts, 02115
United States
Beaumont - Corewell Health East
Royal Oak, Michigan, 48073
United States
Icahn School of Medicine at Mount Sinai
New York, New York, 10029
United States

Collaborators and Investigators

Sponsor: 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

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2022-12-21
Study Completion Date2025-07-01

Study Record Updates

Study Start Date2022-12-21
Study Completion Date2025-07-01

Terms related to this study

Keywords Provided by Researchers

  • genome sequencing
  • newborn screening
  • preventive medicine

Additional Relevant MeSH Terms

  • Genetic Predisposition to Disease
  • Hereditary Diseases