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Clinical genetic counseling and translation considerations for polygenic scores in personalized risk assessments: A Practice Resource from the National Society of Genetic Counselors.
Wand, Hannah; Kalia, Sarah S; Helm, Benjamin M; Suckiel, Sabrina A; Brockman, Deanna; Vriesen, Natalie; Goudar, Ranjit K; Austin, Jehannine; Yanes, Tatiane.
Affiliation
  • Wand H; Department of Cardiology and Biomedical Data Sciences, Stanford Medicine, Stanford, California, USA.
  • Kalia SS; Department of Epidemiology, Harvard Chan School of Public Health, Boston, Massachusetts, USA.
  • Helm BM; Department of Medical & Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.
  • Suckiel SA; Department of Epidemiology, Indiana University Fairbanks School of Public Health, Indianapolis, Indiana, USA.
  • Brockman D; Institute for Genomic Health & Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
  • Vriesen N; Color Health, Burlingame, California, USA.
  • Goudar RK; Division of Medical Genetics, Department of Women's Health, Henry Ford Health, Detroit, Michigan, USA.
  • Austin J; Division of Hematology & Oncology, Department of Internal Medicine, Eastern Virginia Medical School, Norfolk, Virginia, USA.
  • Yanes T; Virginia Oncology Associates, Hereditary Cancer Clinic, Norfolk, Virginia, USA.
J Genet Couns ; 32(3): 558-575, 2023 06.
Article in En | MEDLINE | ID: mdl-36617640
Polygenic scores (PGS) are primed for use in personalized risk assessments for common, complex conditions and population health screening. Although there is growing evidence supporting the clinical validity of these scores in certain diseases, presently, there is no consensus on best practices for constructing PGS or demonstrated clinical utility in practice. Despite these evidence gaps, individuals can access their PGS information through commercial entities, research programs, and clinical programs. This prompts the immediate need for educational resources for clinicians encountering PGS information in clinical practice. This practice resource is intended to increase genetic counselors' and other healthcare providers' understanding and comfort with PGS used in personalized risk assessments. Drawing on best practices in clinical genomics, we discuss the unique considerations for polygenic-based (1) testing, (2) clinical genetic counseling, and (3) translation to population health services. This practice resource outlines the emerging uses of PGS, as well as the critical limitations of this technology that need to be addressed before wide-scale implementation.
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Full text: 1 Database: MEDLINE Main subject: Counselors / Genetic Counseling Type of study: Etiology_studies / Guideline / Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: J Genet Couns Journal subject: GENETICA MEDICA Year: 2023 Type: Article Affiliation country: United States

Full text: 1 Database: MEDLINE Main subject: Counselors / Genetic Counseling Type of study: Etiology_studies / Guideline / Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: J Genet Couns Journal subject: GENETICA MEDICA Year: 2023 Type: Article Affiliation country: United States