{"id":"W3049259271","doi":"10.1016/j.ejmg.2020.104024","title":"Integration of genetic counsellors in genomic testing triage: Outcomes of a genomic consultation service in British Columbia, Canada","year":2020,"lang":"en","type":"article","venue":"European Journal of Medical Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":false,"ca_institutions":"BC Children's Hospital; Pacific Centre for Reproductive Medicine; Centre for Advancing Health Outcomes; Women's Health Research Institute; University of British Columbia","funders":"Provincial Health Services Authority; Canadian Institutes of Health Research; Genome British Columbia; Genome Canada","keywords":"Medicine; Family medicine; Triage; Genetic counseling; Genetic testing; Logistic regression; Referral; Test (biology); Exome sequencing; Exome; Agency (philosophy); Medical emergency; Internal medicine; Genetics; Mutation","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.001407716,0.0004717854,0.0005983553,0.0009663238,0.0100073,0.003609679,0.002962336,0.001538174,0.005724284],"category_scores_gemma":[0.005960179,0.0007636732,0.000515555,0.003530591,0.001701437,0.0008181347,0.003551947,0.002434589,0.0007865506],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.09191334,"about_ca_system_score_gemma":0.1833912,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.9973963,"about_ca_topic_score_gemma":0.998939,"domain_scores_codex":[0.9953319,0.0005445722,0.0001895833,0.0004468849,0.001145068,0.002341834],"domain_scores_gemma":[0.990061,0.0007392957,0.0005454649,0.0001698781,0.003952107,0.004532204],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001270595,0.002264474,0.8705386,0.0002841845,0.000157406,0.004328969,0.02472853,0.001367796,0.002098376,0.001073853,0.01971557,0.07217165],"study_design_scores_gemma":[0.0001828655,0.0004827154,0.9084812,0.0003427318,0.0001384667,0.0007409225,0.08069244,0.002321588,0.0004223711,0.0002950279,0.005744828,0.0001548023],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9861705,0.000607453,0.0001533378,0.003764539,0.00006702329,0.0002613379,0.001442405,0.0000303486,0.007503022],"genre_scores_gemma":[0.9889798,0.0008054918,0.0007239612,0.001589368,0.00002039793,0.0000987419,0.000908146,0.00004235632,0.006831721],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.09191334,"threshold_uncertainty_score":0.6668811,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01575582018533984,"score_gpt":0.2240362840805804,"score_spread":0.2082804638952406,"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."}}