BabySeq
BabySeq is a research study evaluating the use of genome sequencing in newborns. It was launched in 2015 as the first randomized clinical trial to explore the medical, behavioral, and economic impacts of incorporating genomic sequencing into routine newborn care.[1]
Background
The project was initiated by investigators at Mass General Brigham, Harvard Medical School, and Boston Children's Hospital, with support from the National Institutes of Health (NIH). Its goal is to understand how comprehensive genomic data can be integrated into newborn and pediatric care, and how families and clinicians interpret and act on such findings.[1][2]
BabySeq2
A second phase of the project, sometimes referred to as BabySeq2, is an implementation study designed to expand on findings from the original trial. The study has enrolled over 700 newborns across sites in Birmingham, Alabama; Boston, Massachusetts; Detroit, Michigan; Lebanon, New Hampshire; Madison, Wisconsin; Miami, Florida; Minneapolis, Minnesota; New York City, New York; Philadelphia, Pennsylvania; and Stanford, California, with an emphasis on recruiting a diverse cohort of families.[2] The project aims to evaluate how genomic information is communicated and used in clinical settings and how genomic information can impact healthcare throughout childhood.[3]
Findings
BabySeq has contributed data on the frequency and impact of monogenic disease variants identified through genome sequencing among otherwise healthy newborns,[4] as well as ethical and psychosocial outcomes for families.[5] A 2025 New York Times article mentioned BabySeq among studies exploring the expanding role of genomic testing in infants.[6]
References
- ↑ 1.0 1.1 "NIH funds centers to study genomic testing in newborns". 2013-04-09. Retrieved 2026-04-10.
- ↑ 2.0 2.1 Smith, LA; Holm, IA; Green, RC (January 2024). "BabySeq2: Expanding Newborn Genomic Sequencing for Diverse Populations". American Journal of Human Genetics. 114 (1): 57–70 – via PMID.
- ↑ Fletcher, Lyndsey (August 12, 2025). "The BabySeq Project: Why and How?". Front Line Genomics. Retrieved 2026-04-10.
- ↑ Green, RC; Smedley, J; Holm, IA; Smith, LA (June 2023). "Unanticipated Monogenic Disease Risks Identified through Newborn Genomic Screening in the BabySeq Project". American Journal of Human Genetics. 110 (6): 996–1009. doi:10.1016/j.ajhg.2023.05.007. PMC 10357495 Check
|pmc=value (help). PMID 37279760 Check|pmid=value (help) – via PMID. - ↑ Uveges, MK; Holm, IA; Smith, LA; Green, RC (January 2025). "Family genetic risk communication and health behavior after sequencing in the BabySeq Project". Genetics in Medicine. 27 (1): 17–27. doi:10.1016/j.gim.2024.101350. PMC 12264819 Check
|pmc=value (help). PMID 39731470 Check|pmid=value (help) – via PMID. - ↑ Nunn, Emily Baumgaertner (June 5, 2025). "The Ethical Minefield of Testing Infants for Incurable Diseases". The New York Times. Retrieved 2026-04-10.
This article "BabySeq" is from Wikipedia. The list of its authors can be seen in its historical and/or the page Edithistory:BabySeq. Articles copied from Draft Namespace on Wikipedia could be seen on the Draft Namespace of Wikipedia and not main one.
