International assessment of Lynch syndrome screening practices
Notice bibliographique
Résumé
Lynch syndrome (LS) is an inherited cancer syndrome that increases risk of developing certain cancers, most commonly colorectal and endometrial. It is important to distinguish between LS and sporadic cancers because it can help inform the risk of additional cancers as well as identify relatives who may also be at risk of developing LS-associated cancers. In the US, there has been considerable effort by organizations including the Lynch Syndrome Screening Network (LSSN) to promote universal tumor screening as part of routine diagnosis of colon and endometrial cancers to identify more cases of LS. However, it is unclear what LS screening practices currently exist internationally. In order to characterize global LS screening practices with regards to screening of colorectal cancer tumors, this study implemented a survey to capture screening procedures and methods, cascade testing, and efficacy measures. The online survey was distributed to individuals at member organizations of LSSN, members of the International Society for Gastrointestinal Hereditary Tumors (InSiGHT), and the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer (CGA-IGC). Additionally, two interview guides were developed depending on whether survey respondents’ organizations had a routine LS screening program or not. This was done by creating open-ended questions based on survey questions. This will support future work in elucidating how barriers and facilitators, such as insurance and social factors, may inform LS screening practices. There were 27 survey respondents from seven countries: Canada, US, Denmark, Ireland, Netherlands, UK, and Japan. Some key findings from the survey showed that no institutions offer only direct-to-germline testing, 92.6% of responding institutions perform universal tumor screening, 81.5% of institutions use a patient-mediated method of informing relatives about cascade testing, and 48.1% of institutions systematically track LS detection rates. The public health significance of this project is that it identifies ways in which resources developed by LSSN could be leveraged to facilitate implementation of LS screening programs (especially universal tumor screening) world-wide and provide guidance on how population-specific improvements could be made to current screening programs. Ultimately, this will help to increase LS diagnoses and reduce the burden that LS can have in families globally.
Récupéré en direct depuis OpenAlex et désinversé. Les résumés ne sont pas conservés dans cette base de données : les index inversés représentent 8,6 Go des 9,3 Go de texte de la base, et le serveur dispose de 13 Go libres.
Comment cette classification a été obtenuedéplier
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 | 0,001 |
| Science ouverte | 0,000 | 0,000 |
| Intégrité de la recherche | 0,000 | 0,001 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,002 | 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 découleClassification
machine, non validéePrédiction automatique; un appel candidat d’une seule tête enseignante, pas un consensus.
Le détail, modèle par modèle et score par score, se trouve en fin de page sous « Comment cette classification a été obtenue ».