{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.07048894,0.0003481979,0.0004679925,0.0005070833,0.001183603,0.001959409,0.0008621969,0.001273359,0.003445479],"category_scores_gemma":[0.1134816,0.0002882476,0.0007709985,0.000624434,0.001330105,0.001468832,0.002665855,0.001380929,0.000870988],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001066346,"about_ca_system_score_gemma":0.003648276,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004610049,"about_ca_topic_score_gemma":0.003554849,"domain_scores_codex":[0.9284704,0.06042245,0.002372395,0.001671687,0.005397873,0.001665248],"domain_scores_gemma":[0.9539354,0.02455573,0.0053789,0.004677692,0.00495477,0.006497461],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.006614109,0.005007488,0.9116054,0.0001352592,0.0001350183,0.0008740096,0.004482615,0.0004749891,0.0004822221,0.001835205,0.005563326,0.06279042],"study_design_scores_gemma":[0.001818005,0.01902175,0.9509869,0.0002762779,0.0001452856,0.001291011,0.00742985,0.004298196,0.0009327776,0.003218049,0.01045789,0.0001240487],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9744265,0.0001762027,0.002702081,0.004231718,0.0001254172,0.004799813,0.001537115,0.00004915257,0.01195195],"genre_scores_gemma":[0.9891488,0.0001223016,0.004102385,0.001195486,0.00006351292,0.003933316,0.0006636952,0.00001831373,0.000752129],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07048894,"threshold_uncertainty_score":0.3727856,"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."}}