{"id":"W3217131706","doi":"10.1038/s41591-021-01549-6","title":"Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps","year":2021,"lang":"en","type":"review","venue":"Nature Medicine","topic":"Health Systems, Economic Evaluations, Quality of Life","field":"Economics, Econometrics and Finance","cited_by":439,"is_retracted":false,"has_abstract":false,"ca_institutions":"Jewish General Hospital; McGill University","funders":"Fondo de Fomento al Desarrollo Científico y Tecnológico; National Institute of Mental Health; NIHR Cambridge Biomedical Research Centre; Japan Society for the Promotion of Science; Economic and Social Research Council; Engineering and Physical Sciences Research Council; Fonds de Recherche du Québec - Santé; Agencia Nacional de Investigación y Desarrollo; European Commission; Jewish General Hospital; King's College London; National Institute on Aging; National Institute for Health and Care Research; Academy of Finland; British Heart Foundation; University of Cambridge; Wellcome Trust; Cancer Research UK; Health and Social Care Research and Development Division; Cambridge University Hospitals; Public Health Agency; Moonshot Research and Development Program; Fondation de l'Hôpital général juif; Russell Sage Foundation; Government of Canada; Fondation du cancer du sein du Québec; National Institutes of Health; Open Philanthropy Project; Genome Canada; Compute Canada; Chief Scientist Office, Scottish Government Health and Social Care Directorate; Scottish Government; Medical Research Council; Department of Health and Social Care; JPB Foundation; State Government of Victoria; Japan Agency for Medical Research and Development; McGill University; Public Health Agency of Canada; Canadian Institutes of Health Research; London School of Hygiene and Tropical Medicine; Sage Foundation","keywords":"Polygenic risk score; Medicine; Environmental health; Risk assessment; Biology; Genetics; Computer science","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.01114866,0.0007655537,0.0040797,0.001725467,0.0002072563,0.002087133,0.001537372,0.002035552,0.003101911],"category_scores_gemma":[0.02311524,0.000333764,0.00200124,0.002680538,0.0009420504,0.001503135,0.0009283242,0.002520641,0.0004960523],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001090101,"about_ca_system_score_gemma":0.002822767,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003439137,"about_ca_topic_score_gemma":0.005552821,"domain_scores_codex":[0.995799,0.002472006,0.0004456881,0.0003916921,0.0007971129,0.00009456065],"domain_scores_gemma":[0.9704418,0.02577421,0.001475725,0.0004437109,0.001633244,0.000231242],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0003109581,0.00007056084,0.002017435,0.02142669,0.001628235,0.00007822233,0.00005351313,0.0003837221,0.00009125802,0.007367732,0.01404233,0.9525294],"study_design_scores_gemma":[0.001292089,0.0008833553,0.04114582,0.1821961,0.01262407,0.002850641,0.000553164,0.002453683,0.0007048014,0.05870093,0.6962768,0.0003184799],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0001702935,0.9978948,0.0002291838,0.001329111,0.0001066081,0.000004655617,0.00004170016,0.000003222279,0.0002204962],"genre_scores_gemma":[0.004280726,0.9933628,0.0006757688,0.001069291,0.0004132744,0.00001912777,0.00006108384,0.000003651497,0.0001142046],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.01114866,"threshold_uncertainty_score":0.05896044,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.5581218512454834,"score_gpt":0.523284226741701,"score_spread":0.03483762450378236,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}