{"id":"W4416948473","doi":"10.3389/fgene.2025.1704364","title":"Perspectives of parents receiving normal results from genomic newborn screening: a mixed-methods evaluation from the early check program","year":2025,"lang":"en","type":"article","venue":"Frontiers in Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Travere Therapeutics; Orchard Therapeutics; National Center for Advancing Translational Sciences; National Institutes of Health; Leona M. and Harry B. Helmsley Charitable Trust; Janssen Pharmaceuticals; Juvenile Diabetes Research Foundation United States of America; Sanofi","keywords":"Regret; Quarter (Canadian coin); Comprehension; Genetic testing; Public health; Qualitative research; Genetic counseling","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.05511933,0.0007958733,0.0009545821,0.0009783743,0.002985821,0.002937,0.001210094,0.00128917,0.002160392],"category_scores_gemma":[0.04509284,0.0009417246,0.001835018,0.0009158126,0.001147607,0.002317989,0.002924702,0.001783487,0.0003579661],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.003302589,"about_ca_system_score_gemma":0.005889011,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005328861,"about_ca_topic_score_gemma":0.006828445,"domain_scores_codex":[0.9719335,0.02237556,0.00162804,0.0006581326,0.001830754,0.001574094],"domain_scores_gemma":[0.9746774,0.01716985,0.002301835,0.00105409,0.003270753,0.001526075],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"qualitative","study_design_gemma":"observational","study_design_scores_codex":[0.004179238,0.0209423,0.2261229,0.002615893,0.0004418222,0.001547517,0.5481287,0.0005722152,0.002285064,0.0009919908,0.003413673,0.1887586],"study_design_scores_gemma":[0.002166856,0.06685038,0.2717801,0.002079214,0.0008528804,0.001179852,0.6286363,0.002930106,0.004790825,0.001309725,0.01705619,0.0003676053],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9960237,0.0001863417,0.0006426155,0.00057979,0.00002082612,0.001511596,0.0002250951,0.000009429221,0.0008006739],"genre_scores_gemma":[0.9818105,0.0008259172,0.005832115,0.001272282,0.00004701263,0.00893141,0.0003301494,0.00001910068,0.0009315854],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05511933,"threshold_uncertainty_score":0.2915023,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01238441042011266,"score_gpt":0.3094819853452912,"score_spread":0.2970975749251785,"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."}}