{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001445263,0.0001905175,0.0002404257,0.0000450653,0.0001089019,0.00002153712,0.0001867923,0.0001459683,0.00003158148],"category_scores_gemma":[0.0006578598,0.0002141263,0.00005921783,0.0004601733,0.00009631287,0.000009331616,0.00008718601,0.0001046862,6.029469e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001393272,"about_ca_system_score_gemma":0.005235325,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001908793,"about_ca_topic_score_gemma":0.001258182,"domain_scores_codex":[0.9985161,0.0001106438,0.0003713142,0.0004622138,0.0002318477,0.000307858],"domain_scores_gemma":[0.9973691,0.00003085039,0.0002527489,0.0003008457,0.001920531,0.0001260021],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0002926565,0.00001495436,0.02400622,0.00006937471,0.0001169177,0.000004991889,0.00006786511,0.001110702,0.9482978,0.000002888265,0.005930186,0.02008545],"study_design_scores_gemma":[0.002491029,0.0003473078,0.006099276,0.0002875476,0.0001115477,0.00001311565,0.0002163141,0.0008733327,0.976482,0.00001622749,0.01262591,0.0004363627],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9910355,0.006542705,0.0006041483,0.0002795997,0.0003602979,0.0002014326,0.0008643871,0.00002144795,0.00009046421],"genre_scores_gemma":[0.9929554,0.0005440005,0.004929848,0.0007192555,0.0001637895,0.00002702182,0.0004917354,0.00004662144,0.0001222758],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02818423,"threshold_uncertainty_score":0.9287242,"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."}}