P409: Clinical utility of genomic sequencing for hereditary cancer syndromes: An observational chart review
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Notice bibliographique
Résumé
management approaches for hundreds of additional genetic disorders are available.Efforts such as the NIH-funded BabySeq Project explore the implications of genomic sequencing in healthy infants with the aim of designing strategies for implementation.Methods: We designed an online survey for rare disease experts (n = 389), investigating which additional treatable genetic conditions (currently not included on the RUSP) they recommend for screening in newborns using genomic sequencing.A list of 649 genes associated with treatable genetic conditions in 13 clinical areas was designed.Participants were invited to assess all proposed genes or to select the clinical area with which they were most familiar.We analyzed concordance among experts regarding screening specific genes in newborns.We also assessed responses to a series of descriptive questions about participant attitudes regarding universal genomic sequencing to screen newborns for treatable genetic disorders as well as the inclusion of disorders that are untreatable, lack confirmatory orthogonal tests, are of low penetrance, or are adult-onset.Results: A total of 238 (61.2%) experts, including directors of genetics and genomics programs accredited by the Accreditation Council for Graduate Medical Education (n = 64), physicians specializing in the care of rare disease patients (n = 165), and senior scientists within pharmaceutical companies specializing in rare disease therapeutics (n = 9) participated.Experts agreed with 85% concordance that 25 genes associated with disorders not currently included in universal NBS programs should be evaluated in presymptomatic infants (OTC, G6PC, SLC37A4, CYP11B1, ARSB, F8, F9, SLC2A1, CYP17A1, RB1, IDS, GUSB, DMD, GLUD1, CYP11A1, GALNS, CPS1, PLPBP, ALDH7A1, SLC26A3, SLC25A15, SMPD1, GATM, SLC7A7, NAGS).Orthogonal tests are available for confirmation of genetic disorders caused by 24 out of these 25 genes (96%).Clinical areas of interest included Metabolism, Neurology, Endocrinology and Hemato-Oncology.A total of 42 genes had 80% concordance and 432 genes had 50% concordance.Overall, 161 of 183 (87.9%) experts agreed or somewhat agreed that genomic sequencing should be used to expand the number of conditions included in NBS.Conclusion: While several of these genes are associated with clinical domains that are currently included in NBS, there are multiple candidates that represent new frontiers for NBS, such as hereditary cancer predisposition syndromes.This study highlights that experts endorse the expansion of NBS programs to include additional treatable monogenic disorders, including 25 high-priority conditions which could be efficiently screened using genomic sequencing.
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Prédiction distillée sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Apprise à partir de 10 348 étiquettes directes de Codex et de 10 348 étiquettes directes de Gemma. Le mode candidate est l'union des têtes enseignantes seuillées; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont ni des étiquettes humaines ni des étiquettes directes de modèles de pointe.
Scores Codex et Gemma par catégorie
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,001 | 0,000 |
| Méta-épidémiologie (sens strict) | 0,000 | 0,000 |
| Méta-épidémiologie (sens large) | 0,000 | 0,000 |
| Bibliométrie | 0,000 | 0,000 |
| Études des sciences et des technologies | 0,000 | 0,000 |
| Communication savante | 0,000 | 0,000 |
| Science ouverte | 0,001 | 0,000 |
| Intégrité de la recherche | 0,000 | 0,000 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,000 | 0,000 |
Scores machine (provisoires)
Les deux têtes enseignantes du modèle étudiant, lues sur ce travail. Un score ordonne la base pour la relecture; il n'affirme jamais une catégorie, et le statut de validation accompagne chaque rangée tel quel.
Scores de référence d'un modèle non mature (critères de maturité non atteints, 7 itérations). Un score ordonne; il n'affirme jamais une catégorie.
score_only:v0-immature-baseline · tel quel depuis la passe de notation : score_only signifie que le nombre peut ordonner les travaux, et qu'aucune étiquette de catégorie n'en découle