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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.


Genetic Predisposition to Disease, Hereditary Diseases

Recruitment Status


Detailed Description

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.

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


Intervention Type

Intervention Name


Genome Sequencing


Not Applicable



Min Age

0 Months

Max Age

12 Months

Download Date

May 16, 2024

Principal Investigator

Ingrid Holm

This field has been modified from to show a contact specific to Boston Children's.

Primary Contact Information

Casie Genetti, MS, CGC

This field has been modified from to show a contact specific to Boston Children's.

For more information on this trial, visit


For more information and to contact the study team:

Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants NCT05161169 Casie Genetti, MS, CGC