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Endocr Rev. 2019 Dec 1;40(6):1500-1520. doi: 10.1210/er.2019-00088.

Genetic Risk Scores for Diabetes Diagnosis and Precision Medicine.

Udler MS1,2,3,4, McCarthy MI5,6,7, Florez JC1,2,3,4, Mahajan A6.

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Diabetes Unit, Massachusetts General Hospital, Boston, Massachusetts.
Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts.
Programs in Metabolism and Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.
Department of Medicine, Harvard Medical School, Boston, Massachusetts.
Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Headington, Oxford, United Kingdom.
Wellcome Centre for Human Genetics, University of Oxford, Oxford, United Kingdom.
Oxford NIHR Biomedical Research Centre, Oxford University Hospitals NHS Foundation Trust, John Radcliffe Hospital, Oxford, United Kingdom.


During the last decade, there have been substantial advances in the identification and characterization of DNA sequence variants associated with individual predisposition to type 1 and type 2 diabetes. As well as providing insights into the molecular, cellular, and physiological mechanisms involved in disease pathogenesis, these risk variants, when combined into a polygenic score, capture information on individual patterns of disease predisposition that have the potential to influence clinical management. In this review, we describe the various opportunities that polygenic scores provide: to predict diabetes risk, to support differential diagnosis, and to understand phenotypic and clinical heterogeneity. We also describe the challenges that will need to be overcome if this potential is to be fully realized.

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