{"id":"W2982760854","doi":"10.1038/s41436-019-0684-x","title":"Genetic testing for Parkinson disease: current practice, knowledge, and attitudes among US and Canadian movement disorders specialists","year":2019,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":66,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Genentech; Allergan; National Institutes of Health; Sun Pharma; Farmer Family Foundation; Voyager Therapeutics; Acorda Therapeutics; Sunovion; National Institute of Neurological Disorders and Stroke; Teva Pharmaceutical Industries; CHDI Foundation; Biogen; Sanofi; Eli Lilly and Company; Bristol-Myers Squibb; Parkinson's Foundation; Pfizer; National Human Genome Research Institute; Mitsubishi Tanabe Pharma Corporation; Lewy Body Dementia Association; ALS Association; Michael J. Fox Foundation for Parkinson's Research","keywords":"Genetic testing; Medicine; Genetic counseling; Family medicine; LRRK2; Disease; Movement disorders; Penetrance; Parkinson's disease; Test (biology); Pathology; Internal medicine","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004086026,0.0002163558,0.000335945,0.0003078216,0.00008777479,0.00002197604,0.0001011455,0.00006355537,0.00004685536],"category_scores_gemma":[0.0007924034,0.0001930836,0.0000307655,0.0002667,0.0002808325,0.00002960819,0.00008176089,0.0002195787,0.00000484069],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00009045762,"about_ca_system_score_gemma":0.0003554767,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003617952,"about_ca_topic_score_gemma":0.02900676,"domain_scores_codex":[0.9982287,0.00007103055,0.0003260064,0.000528492,0.000341707,0.0005040918],"domain_scores_gemma":[0.9985052,0.0002631747,0.00006693297,0.0003301045,0.0001572781,0.0006773593],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0000646175,0.000114094,0.8857902,0.0005934152,0.00003012859,0.00001718047,0.0002264486,0.00002750392,0.0002428702,0.00005606011,0.0005593493,0.1122781],"study_design_scores_gemma":[0.002567526,0.0005137785,0.8741843,0.0003898698,0.0001113245,0.000005419393,0.000117801,0.001898129,0.00001460887,0.000392292,0.1196424,0.0001625475],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9270682,0.0665755,0.0000994974,0.001743945,0.0003064499,0.002146006,0.00001040853,0.00001309959,0.002036827],"genre_scores_gemma":[0.9814434,0.01517654,0.002028679,0.0006294033,0.0003118934,0.0001205713,0.00002328525,0.00004597069,0.0002202571],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.119083,"threshold_uncertainty_score":0.9887114,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0293999259787461,"score_gpt":0.3526246965652736,"score_spread":0.3232247705865275,"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."}}