{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001273725,0.0001400866,0.0001977776,0.001260091,0.001690179,0.00120197,0.000684933,0.0006576477,0.002846481],"category_scores_gemma":[0.005858958,0.000205721,0.0002406488,0.001915507,0.001057326,0.0005266636,0.0007489042,0.0005192346,0.0002711466],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.009567719,"about_ca_system_score_gemma":0.01172636,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.9158389,"about_ca_topic_score_gemma":0.9185924,"domain_scores_codex":[0.9986736,0.0001568535,0.00009560959,0.0001342911,0.0006386318,0.0003010798],"domain_scores_gemma":[0.9948404,0.0007610782,0.001022413,0.00006317561,0.001697974,0.001614817],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00004311529,0.00006292249,0.9756648,0.0000675233,0.00001977632,0.000159886,0.01024763,0.00005365554,0.0001854057,0.00005063888,0.002239512,0.01120517],"study_design_scores_gemma":[0.00001094636,0.00005288651,0.9815099,0.00008518401,0.00001217619,0.0002297079,0.01631214,0.0002045857,0.00004360668,0.00002370149,0.001499876,0.0000152305],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9937976,0.0006465949,0.00004018829,0.001732475,0.00001091771,0.00001963644,0.0004694425,0.000006823059,0.003276254],"genre_scores_gemma":[0.998342,0.0005232624,0.00009320757,0.0004301171,0.000006655094,0.000007946273,0.0002006029,0.000002153463,0.0003939642],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0841611,"threshold_uncertainty_score":0.1693134,"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."}}