{"id":"W4414978444","doi":"10.1038/s41591-025-03986-z","title":"Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study","year":2025,"lang":"en","type":"article","venue":"Nature Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":16,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ontario Genomics; University of Toronto","funders":"National Health and Medical Research Council; Medical Research Council; State Government of Victoria; Australian Government; Children's Hospital Foundation","keywords":"Newborn screening; Genomic medicine; Genomic sequencing; Regret; Interquartile range; Cohort; Prospective cohort study; Personalized medicine","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006448719,0.0001312478,0.0003033938,0.00003051912,0.00007630224,0.00000543884,0.0003025817,0.0002076883,0.00001988263],"category_scores_gemma":[0.0009989596,0.00007462304,0.0001289012,0.0001087399,0.0002935519,0.000001431655,0.0003870027,0.0002747601,1.764502e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007692418,"about_ca_system_score_gemma":0.00008134392,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007899151,"about_ca_topic_score_gemma":0.0003301711,"domain_scores_codex":[0.9988698,0.0001456447,0.0003682214,0.0003625238,0.0001307159,0.0001231026],"domain_scores_gemma":[0.9990448,0.00007897292,0.00009971941,0.000619708,0.00009593706,0.00006079986],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001018878,0.0001734686,0.9890799,0.00001545997,0.000133627,9.132795e-7,0.00002676581,0.000001160946,0.001578204,0.00002753633,0.0006218432,0.008239239],"study_design_scores_gemma":[0.00143331,0.0002079279,0.9936416,0.00001223807,0.000141057,0.000001333127,0.0004863839,0.000009303071,0.0002820483,0.0001060838,0.003615819,0.00006293595],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9944481,0.002805699,0.0000911321,0.001184283,0.0003723912,0.0005089339,0.00001764296,0.000005171195,0.0005666508],"genre_scores_gemma":[0.9982803,0.00006009531,0.0002382195,0.0009989042,0.0001360016,0.00000393377,0.0000137865,0.000007258424,0.0002615143],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008176303,"threshold_uncertainty_score":0.3043039,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01617699324809759,"score_gpt":0.3637513934338783,"score_spread":0.3475744001857807,"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."}}