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Managing differential performance of polygenic risk scores across groups: Real-world experience of the eMERGE Network.
Lewis, Anna C F; Chisholm, Rex L; Connolly, John J; Esplin, Edward D; Glessner, Joe; Gordon, Adam; Green, Robert C; Hakonarson, Hakon; Harr, Margaret; Holm, Ingrid A; Jarvik, Gail P; Karlson, Elizabeth; Kenny, Eimear E; Kottyan, Leah; Lennon, Niall; Linder, Jodell E; Luo, Yuan; Martin, Lisa J; Perez, Emma; Puckelwartz, Megan J; Rasmussen-Torvik, Laura J; Sabatello, Maya; Sharp, Richard R; Smoller, Jordan W; Sterling, Rene; Terek, Shannon; Wei, Wei-Qi; Fullerton, Stephanie M.
  • Lewis ACF; Edmond and Lily Safra Center for Ethics, Harvard University, Cambridge, MA, USA; Department of Genetics, Brigham and Women's Hospital, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA; Harvard Medical School, Boston, MA, USA. Electronic address: aclewis@bwh.harvard.edu.
  • Chisholm RL; Center for Genetic Medicine, Northwestern University, Evanston, IL, USA.
  • Connolly JJ; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Esplin ED; Invitae, San Francisco, CA, USA.
  • Glessner J; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Gordon A; Center for Genetic Medicine, Northwestern University, Evanston, IL, USA; Department of Pharmacology, Northwestern University, Evanston, IL, USA.
  • Green RC; Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA; Ariadne Labs, Boston, MA, USA; Harvard Medical School, Boston, MA, USA.
  • Hakonarson H; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Division of P
  • Harr M; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Holm IA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
  • Jarvik GP; Division of Medical Genetics, Department of Medicine and Department of Genome Science, University of Washington Medical Center, Seattle, WA, USA.
  • Karlson E; Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA; Mass General Brigham Personalized Medicine, Boston, MA, USA.
  • Kenny EE; Institute for Genomic Health, Icahn School of Medicine, New York City, NY, USA; Center for Clinical Translational Genomics, Icahn School of Medicine, New York City, NY, USA; Division of Genomic Medicine, Department of Medicine, Icahn School of Medicine, New York City, NY, USA; Department of Genetics
  • Kottyan L; Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
  • Lennon N; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Linder JE; Vanderbilt Institute for Clinical and Translational Research, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Luo Y; Department of Preventive Medicine, Northwestern University, Evanston, IL, USA.
  • Martin LJ; Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA; University of Cincinnati College of Medicine, Cincinnati, OH, USA.
  • Perez E; Mass General Brigham Personalized Medicine, Boston, MA, USA.
  • Puckelwartz MJ; Center for Genetic Medicine, Northwestern University, Evanston, IL, USA; Department of Pharmacology, Northwestern University, Evanston, IL, USA.
  • Rasmussen-Torvik LJ; Center for Genetic Medicine, Northwestern University, Evanston, IL, USA; Department of Preventive Medicine, Northwestern University, Evanston, IL, USA.
  • Sabatello M; Center for Precision Medicine and Genomics, Department of Medicine, Columbia University Irving Medical Center, New York City, NY, USA; Division of Ethics, Department of Medical Humanities and Ethics, Columbia University Irving Medical Center, New York City, NY, USA.
  • Sharp RR; Biomedical Ethics Program, Mayo Clinic, Rochester, MN, USA.
  • Smoller JW; Center for Precision Psychiatry, Department of Psychiatry, Massachusetts General Hospital, Boston, MA, USA; Psychiatric & Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Stanley Center for Psychiatric Research, Broad Institute, Camb
  • Sterling R; Division of Genomics and Society, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Terek S; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Wei WQ; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Fullerton SM; Department of Bioethics & Humanities, University of Washington School of Medicine, Seattle, WA, USA.
Am J Hum Genet ; 111(6): 999-1005, 2024 06 06.
Article en En | MEDLINE | ID: mdl-38688278
ABSTRACT
The differential performance of polygenic risk scores (PRSs) by group is one of the major ethical barriers to their clinical use. It is also one of the main practical challenges for any implementation effort. The social repercussions of how people are grouped in PRS research must be considered in communications with research participants, including return of results. Here, we outline the decisions faced and choices made by a large multi-site clinical implementation study returning PRSs to diverse participants in handling this issue of differential performance. Our approach to managing the complexities associated with the differential performance of PRSs serves as a case study that can help future implementers of PRSs to plot an anticipatory course in response to this issue.
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Predisposición Genética a la Enfermedad / Herencia Multifactorial Límite: Humans Idioma: En Año: 2024 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Predisposición Genética a la Enfermedad / Herencia Multifactorial Límite: Humans Idioma: En Año: 2024 Tipo del documento: Article