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The BabySeq project: implementing genomic sequencing in newborns.
Ingrid A Holm1,2, Pankaj B Agrawal3,4,5, Ozge Ceyhan-Birsoy6,7,8
1Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA. ingrid.holm@childrens.harvard.edu.
BMC Pediatrics
|July 11, 2018
Summary
The BabySeq Project investigates the impact of genomic sequencing in newborns. This study provides crucial data on the risks, benefits, and costs of newborn genomic screening for future policy decisions.
Area of Science:
- Genomics
- Pediatric Medicine
- Bioethics
Background:
- Genomic sequencing offers significant lifelong impact opportunities, particularly during the newborn period.
- The BabySeq Project is a randomized trial examining the integration of genomic sequencing into newborn care.
Purpose of the Study:
- To explore the medical, behavioral, and economic impacts of genomic sequencing in healthy and sick newborns.
- To gather empirical data on the risks, benefits, and costs associated with newborn genomic sequencing.
- To inform policy decisions regarding universal genomic screening for newborns.
Main Methods:
- Enrollment of newborn families from two major hospitals.
- Randomization of participants into sequencing and control groups.
- Collection of outcomes via medical record review and parent/provider surveys, including analysis of reported genomic variants and their impact on medical management.
Main Results:
- Data collection focuses on the rationale for variant selection, the contribution of genomic data to infant medical management, and the overall impacts of sequencing.
- Analysis of medical, behavioral, and economic outcomes for families receiving genomic sequencing results.
Conclusions:
- The BabySeq Project will yield essential empirical data on the implications of newborn genomic sequencing.
- Findings will guide policy development for widespread genomic screening in newborns.
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