{"id":"W4413482665","doi":"10.1136/jmg-2025-110871","title":"Reproductive carrier screening for genetic disorders: position statement of the Canadian College of Medical Geneticists","year":2025,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Cystic Fibrosis Research Advances","field":"Medicine","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; University of British Columbia; Centre Hospitalier Universitaire Sainte-Justine; Université de Montréal; McGill University Health Centre; BC Children's Hospital; University of Toronto","funders":"","keywords":"Position statement; Genetic counseling; Family medicine; Medicine; Population; Ethnic group; Context (archaeology); Genetic testing; Medical genetics; Genetics; Political science; Environmental health; Biology","routes":{"ca_aff":true,"ca_fund":false,"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":[0.02480408,0.001260893,0.001225513,0.002946935,0.009177341,0.005924256,0.004938756,0.01686343,0.009349545],"category_scores_gemma":[0.05997411,0.001069841,0.001374782,0.00264915,0.004466215,0.002444877,0.004077962,0.01717465,0.00447214],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.03075089,"about_ca_system_score_gemma":0.2756308,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.7162774,"about_ca_topic_score_gemma":0.8342027,"domain_scores_codex":[0.9797955,0.002266448,0.002044931,0.001603044,0.01039612,0.003894046],"domain_scores_gemma":[0.8612247,0.009225442,0.003598834,0.00263782,0.08732115,0.03599198],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00001787239,0.00002299851,0.001013981,0.0001508087,0.000008687329,0.0001526646,0.0002658544,0.0000712495,0.0001860752,0.001500871,0.9757676,0.0208413],"study_design_scores_gemma":[0.00005291865,0.00003391418,0.004686162,0.001386042,0.00003205295,0.0003493052,0.0007656026,0.0001367937,0.0001599366,0.001242411,0.9910759,0.00007905124],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"other","genre_scores_codex":[0.001552593,0.01472933,0.001664203,0.8736464,0.06379526,0.001063988,0.00170206,0.0001298938,0.04171621],"genre_scores_gemma":[0.04698019,0.05951878,0.02937484,0.6238161,0.07706435,0.00207956,0.007202215,0.0005712378,0.1533928],"genre_candidate":"other","genre_consensus":null,"teacher_disagreement_score":0.2837226,"threshold_uncertainty_score":0.5707871,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02077668222977163,"score_gpt":0.3641298261681602,"score_spread":0.3433531439383886,"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."}}