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Completed

NCT Number: NCT05161169

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

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.

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Key information

Conditions

Genetic Predisposition to Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease Attributes Disease Susceptibility Genetic Diseases, Inborn Hereditary Diseases Pathologic Processes Pathological Conditions, Signs and Symptoms

Age range

0 month–12 month

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

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

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About this study

The objective of this research protocol is to assess the impacts of genomic sequencing in healthy infants from ethnically and racially diverse communities as part of routine pediatric care.

Investigators will enroll a cohort of 500 healthy, ethnically and racially diverse infants from Boston, Massachusetts; New York City, New York; and Birmingham, Alabama, with planned expansion to other U.S. cities and recruitment sites. As part of this study, a stakeholder board comprised of diverse community members will provide early and regular feedback throughout the study on anticipated and ongoing community reaction to the work with sensitivity to historical injustices and cultural diversity

Primary care pediatricians from each recruitment site will be enrolled for a brief genomics education curriculum. Only infants whose healthcare providers have joined the study will be enrolled.

A small blood sample will be obtained from each enrolled infant. Participants will randomized (1:1) to receive either a family history report or a family history report plus whole genome sequencing.

Genome sequencing data will be analyzed for pathogenic and likely pathogenic variants in genes associated with childhood-onset disease risks, as well as highly actionable adult-onset disease risks. If infants have a dominant risk identified, parents may choose to be screened as part of the study.

The study team will disclose the infant's randomization status and study results during a consultation with each family, and results will be sent to the infant's pediatrician.

Parents will be surveyed at three time points over the 12 months after enrollment: baseline, immediately post-disclosure (approximately 3 months after enrollment), and 6 months post-disclosure. Surveys will assess psychosocial impacts of newborn sequencing.

Chart reviews will be performed to assess the medical outcomes and healthcare utilization costs of newborn genome sequencing.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Genome Sequencing

Genetic

20 times read depth (20x) next-generation whole genome sequencing with comprehensive analysis.

Primary outcomes

  1. Monogenic disease risks (MDRs)

    Time frame: 3 months after enrollment

    Pathogenic (P) and likely pathogenic (LP) variants identified relevant to infant's health (dominant or biallelic recessive disease risks)

  2. Carrier status variants

    Time frame: 3 months after enrollment

    P and LP variants identified as recessive carrier status in infant

  3. MDR-associated phenotype

    Time frame: 3 months after enrollment and 1-year post-disclosure (15 months after enrollment)

    Signs or symptoms of monogenic disease risk identified by genome sequencing

  4. Parenting stress, relationship dysfunction

    Time frame: Baseline, post-disclosure (3 months after enrollment), 6 months post-disclosure (9 months after enrollment)

    Parenting Stress Index, 4th Edition Short Form (scored as a percentile 0 - 100%, higher scores indicate increased stress)

  5. Relationship satisfaction

    Time frame: Baseline, post-disclosure (3 months after enrollment), 6 months post-disclosure (9 months after enrollment)

    Kansas Marital Satisfaction Scale (Scored 3 to 21, higher scores indicate better marital quality)

  6. General anxiety

    Time frame: Baseline, post-disclosure (3 months after enrollment), 6 months post-disclosure (9 months after enrollment)

    General Anxiety Disorder-7

Secondary outcomes

  1. MDR-associated family history

    Time frame: 3 months after enrollment and 1-year post-disclosure (15 months after enrollment)

    Signs or symptoms of monogenic disease risk or recessive condition present in infant's biological family

  2. Intervention prompted by genetic or family history report

    Time frame: 6 months post-disclosure (9 months after enrollment)

    Healthcare intervention prompted by MDR or recessive carrier variant

  3. Suspected genetic condition

    Time frame: 6 months post-disclosure (9 months after enrollment)

    Any phenotype that develops in an infant or a family history suspected to have a genetic cause

  4. Child vulnerability

    Time frame: Baseline, post-disclosure (3 months after enrollment), 6 months post-disclosure (9 months after enrollment)

    Vulnerable Baby Scale (scored 0-50, higher scores indicate increased perceptions of child vulnerability)

  5. Feelings about genomic testing

    Time frame: Baseline, post-disclosure (3 months after enrollment), 6 months post-disclosure (9 months after enrollment)

    Feelings About genomiC Testing Results (FACToR) Questionnaire

  6. Partner blame

    Time frame: Baseline, post-disclosure (3 months after enrollment), 6 months post-disclosure (9 months after enrollment)

    Novel item (higher scores indicate increased blame)

  7. General depression

    Time frame: Baseline, post-disclosure (3 months after enrollment), 6 months post-disclosure (9 months after enrollment)

    Patient Health Questionnaire (PHQ)-8

  8. Self blame

    Time frame: Baseline, post-disclosure (3 months after enrollment), 6 months post-disclosure (9 months after enrollment)

    Novel item (higher scores indicate increased blame)

Other outcomes

  1. Cost of attributable services

    Time frame: 6 months post-disclosure (9 months after enrollment)

    Cost of health care services associated with surveillance and diagnosis of GS and family history risks

  2. Cost of genomic services

    Time frame: 6 months post-disclosure (9 months after enrollment)

    Cost of genetic services infants and parents received after study disclosure session

  3. All healthcare costs

    Time frame: 6 months post-disclosure (9 months after enrollment)

    All health sector costs observed in medical records and survey questions regarding family out-of-pocket expenses

Sponsors and collaborators

Lead sponsor

Brigham and Women's Hospital

Other

Collaborators

  • Baylor College of Medicine
  • Boston Children's Hospital
  • Broad Institute of MIT and Harvard
  • Dartmouth-Hitchcock Medical Center
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
  • Harvard Pilgrim Health Care
  • Howard University
  • HudsonAlpha Institute for Biotechnology
  • Icahn School of Medicine at Mount Sinai
  • Massachusetts General Hospital
  • National Center for Advancing Translational Sciences (NCATS)
  • University of Alabama at Birmingham

Registry information

Official study title

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

Important dates

Study start
2022
Primary completion
2025
Study completion
2025
First posted
Dec 17, 2021
Registry last updated
Mar 5, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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