{"id":"W3214655582","doi":"10.3390/cancers13225612","title":"Universal Germline Testing of Unselected Cancer Patients Detects Pathogenic Variants Missed by Standard Guidelines without Increasing Healthcare Costs","year":2021,"lang":"en","type":"article","venue":"Cancers","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":22,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"University of Alberta; Alberta Precision Laboratories","keywords":"Genetic testing; Medicine; Hereditary Cancer; Germline; Cancer; Health care; Population; Cancer screening; Oncology; Internal medicine; Family medicine; Genetics; Breast cancer; Environmental health; Gene; Biology","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"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":[0.0008145879,0.0001971111,0.0002965115,0.0004902434,0.0002637068,0.0003883438,0.0002289557,0.0003046717,0.001268136],"category_scores_gemma":[0.005389527,0.0001158453,0.0001482785,0.0005946196,0.0003258146,0.0003827306,0.0004174759,0.0002785975,0.0001595494],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002987424,"about_ca_system_score_gemma":0.0004298425,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00294398,"about_ca_topic_score_gemma":0.004220345,"domain_scores_codex":[0.9990495,0.0003385994,0.00008990795,0.0001670898,0.0002246003,0.0001302847],"domain_scores_gemma":[0.9975115,0.0007950503,0.001104978,0.0001429155,0.0002009524,0.0002446677],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0000743054,0.00005118975,0.9944559,0.00000904559,0.000008339723,0.0001097626,0.00003338279,0.00005883443,0.0002727009,0.00001733995,0.00008118276,0.004828018],"study_design_scores_gemma":[0.00001004528,0.000557749,0.9961265,0.00001759039,0.00002518933,0.001458417,0.0001621477,0.0005792989,0.0006566353,0.00006351165,0.0003396828,0.000003351426],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998881,0.0001617142,0.0001767708,0.00007205525,0.000002783001,0.00001175915,0.00008396624,0.000006902756,0.0006029707],"genre_scores_gemma":[0.9995124,0.00005668844,0.0002435001,0.0000457207,0.000004087141,0.000006245343,0.00006853305,0.000001067085,0.00006166231],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00294398,"threshold_uncertainty_score":0.005853713,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02285135726147974,"score_gpt":0.3035935416873055,"score_spread":0.2807421844258258,"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."}}