The BabySeq Project: A clinical trial of genome sequencing in a diverse cohort of infants.

Autor:	Smith HS; Department of Population Medicine, Precision Medicine Translational Research (PROMoTeR) Center, Harvard Medical School and Harvard Pilgrim Health Care Institute, Boston, MA 02215, USA; Center for Bioethics, Harvard Medical School, Boston, MA 02215, USA., Zettler B; Department of Medicine, Mass General Brigham, Boston, MA 02115, USA; Ariadne Labs, Boston, MA 02215, USA., Genetti CA; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA., Hickingbotham MR; Department of Population Medicine, Harvard Pilgrim Health Care Institute, Boston, MA 02215, USA., Coleman TF; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Lebo M; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Boston, MA 02139, USA; Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02215, USA; Broad Institute of Harvard and MIT, Cambridge, MA, USA., Nagy A; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Boston, MA 02139, USA., Zouk H; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Boston, MA 02139, USA; Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02215, USA; Broad Institute of Harvard and MIT, Cambridge, MA, USA., Mahanta L; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Boston, MA 02139, USA., Christensen KD; Department of Population Medicine, Precision Medicine Translational Research (PROMoTeR) Center, Harvard Medical School and Harvard Pilgrim Health Care Institute, Boston, MA 02215, USA; Broad Institute of Harvard and MIT, Cambridge, MA, USA., Pereira S; Center for Medical Ethics & Health Policy, Baylor College of Medicine, Houston, TX 77030, USA., Shah ND; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Broad Institute of Harvard and MIT, Cambridge, MA, USA; Dartmouth Health Children's, Lebanon, NH 03756, USA., Gold NB; Massachusetts General Hospital for Children, Division of Medical Genetics and Metabolism, Boston, MA 02114, USA; Harvard Medical School, Department of Pediatrics, Boston, MA 02115, USA., Walmsley S; Department of Medicine, Mass General Brigham, Boston, MA 02115, USA; Ariadne Labs, Boston, MA 02215, USA., Edwards S; The E.WE Foundation, Huntsville, AL 35813, USA., Homayouni R; Department of Foundational Medical Studies, Oakland University William Beaumont School of Medicine, Rochester, MI 48309, USA., Krasan GP; Department of Pediatrics, Corewell Health William Beaumont University Hospital, Royal Oak, MI 48073, USA., Hakonarson H; Center for Applied Genomics, The Joseph Stokes Jr. Research Institute of Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Horowitz CR; Department of Population Health Science and Policy, Institute for Health Equity Research, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Gelb BD; Mindich Child Health and Development Institute and the Departments of Pediatrics and Genetics & Genomic Sciences Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Korf BR; Department of Genetics, UAB Heersink School of Medicine, Birmingham, AL 35233, USA., McGuire AL; Center for Medical Ethics & Health Policy, Baylor College of Medicine, Houston, TX 77030, USA., Holm IA; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Harvard Medical School, Department of Pediatrics, Boston, MA 02115, USA. Electronic address: ingrid.holm@childrens.harvard.edu., Green RC; Department of Medicine, Mass General Brigham, Boston, MA 02115, USA; Ariadne Labs, Boston, MA 02215, USA; Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Jazyk:	angličtina
Zdroj:	American journal of human genetics [Am J Hum Genet] 2024 Sep 10. Date of Electronic Publication: 2024 Sep 10.
DOI:	10.1016/j.ajhg.2024.08.011
Abstrakt:	Efforts to implement and evaluate genome sequencing (GS) as a screening tool for newborns and infants are expanding worldwide. The first iteration of the BabySeq Project (2015-2019), a randomized controlled trial of newborn sequencing, produced novel evidence on medical, behavioral, and economic outcomes. The second iteration of BabySeq, which began participant recruitment in January 2023, examines GS outcomes in a larger, more diverse cohort of more than 500 infants up to one year of age recruited from pediatric clinics at several sites across the United States. The trial aims for families who self-identify as Black/African American or Hispanic/Latino to make up more than 50% of final enrollment, and key aspects of the trial design were co-developed with a community advisory board. All enrolled families receive genetic counseling and a family history report. Half of enrolled infants are randomized to receive GS with comprehensive interpretation of pathogenic and likely pathogenic variants in more than 4,300 genes associated with childhood-onset and actionable adult-onset conditions, as well as larger-scale chromosomal copy number variants classified as pathogenic or likely pathogenic. GS result reports include variants associated with disease (Mendelian disease risks) and carrier status of autosomal-recessive and X-linked disorders. Investigators evaluate the utility and impacts of implementing a GS screening program in a diverse cohort of infants using medical record review and longitudinal parent surveys. In this perspective, we describe the rationale for the second iteration of the BabySeq Project, the outcomes being assessed, and the key decisions collaboratively made by the study team and community advisory board. Competing Interests: Declaration of interests H.S.S. has received consulting income from Illumina unrelated to this work. N.D.S. is a member of the Scientific Advisory Board for Neuberg Center for Genomic Medicine. A.L.M. is a paid advisor for Nurture Genomics. B.R.K. is a member of medical advisory boards for Alexion, SpringWorks, Healx, Infixion, and Recursion and has stock options in GenomeMedical. R.C.G. has received compensation for advising Allelica, Atria, Fabric, Genome Web, and Genomic Life and is a cofounder of Genome Medical and Nurture Genomics. (Copyright © 2024 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)
Databáze:	MEDLINE
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