The BabySeq Project
The BabySeq project is the first-of-its-kind randomized clinical trial designed to measure the usefulness of including genomic sequencing in routine infant care.[1] It launched in 2014 under the leadership of Dr. Robert C. Green of Harvard Medical School and Dr. Alan Beggs of [[Boston Children's Hospital]].
The first phase of the BabySeq Project sequenced the genomes of a random selection from among 240 healthy babies born at Brigham and Women's Hospital and 240 babies in the intensive care unit of Boston Children's Hospital. Researchers examined the sequenced genomes for genes and mutations strongly linked to diseases that begin in childhood, including those that could be mitigated if treated early in childhood. Geneticists and genetic counselors met with parents to review sequencing results, and shared this information with the infants' pediatricians to guide their medical care.[2] The project's initial findings suggested that genomic screening of infants could be cost-effective in preventing late-stage, expensive diseases.[3]
The BabySeq2 project, announced in December 2021, is also led by Dr. Green of Brigham and Women's Hospital, with the participation of twelve other hospitals and pediatric healthcare providers.[4] Researchers will study a diverse cohort of 500 healthy infants and their parents from Boston, MA; New York City, NY; and Birmingham, AL, sequencing a randomly selected 250. Researchers have not yet announced a recruitment schedule for this study.
References
- ↑ "Baby genes to be mapped at birth in medical first". New Scientist.
- ↑ Armstrong, Brittan; Christensen, Kurt D.; Genetti, Casie A.; Parad, Richard B.; Robinson, Jill Oliver; Blout Zawatsky, Carrie L.; Zettler, Bethany; Beggs, Alan H.; Holm, Ingrid A.; Green, Robert C.; McGuire, Amy L.; Smith, Hadley Stevens; Pereira, Stacey (May 17, 2022). "Parental Attitudes Toward Standard Newborn Screening and Newborn Genomic Sequencing: Findings From the BabySeq Study". Frontiers in Genetics. 13: 867371. doi:10.3389/fgene.2022.867371. PMC 9091188 Check
|pmc=value (help). PMID 35571041 Check|pmid=value (help). - ↑ Yeh, Jennifer M.; Stout, Natasha K.; Chaudhry, Aeysha; Christensen, Kurt D.; Gooch, Michael; McMahon, Pamela M.; O'Brien, Grace; Rehman, Narmeen; Blout Zawatsky, Carrie L.; Green, Robert C.; Lu, Christine Y.; Rehm, Heidi L.; Williams, Marc S.; Diller, Lisa; Wu, Ann Chen (July 17, 2021). "Universal newborn genetic screening for pediatric cancer predisposition syndromes: model-based insights". Genetics in Medicine. 23 (7): 1366–1371. doi:10.1038/s41436-021-01124-x. PMC 8263476 Check
|pmc=value (help). PMID 33767345 Check|pmid=value (help). - ↑ MPH, Robert C. Green, MD (December 3, 2021). "Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants (1U01TR003201-01A1)" – via clinicaltrials.gov.
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