P609: Mainstreaming genetics: Evaluation of a digital application to scale and spread oncologist-initiated genetic testing
Notice bibliographique
Résumé
Introduction: Reproductive carrier screening, which initially targeted ethic-specific genetic conditions, is now recommended for all populations.Despite technological capacity for expansive screening, in Singapore only thalassemia is routinely offered.Genetic condition severity and prevalence are main considerations in gene panel development, yet carrier screening uptake can be influenced by other factors such as lived experience and available support services.As most exploratory studies have been conducted in healthcare settings with European-derived populations, further research is required regarding participation and barriers amongst diverse populations to understand acceptability and impact.We explored the attitudes and preferences towards the implementation of carrier screening in Singapore, a population comprising of Chinese, Indian and Malay, by engaging with community members, healthcare professionals and religious leaders.Methods: As an initial scoping exercise, individuals of reproductive age attending outpatient appointments at a tertiary hospital in Singapore were invited to complete a questionnaire regarding their preferences towards carrier screening participation and genetic conditions to be screened.In parallel, the views and attitudes from healthcare professionals working in genetics or obstetric departments regarding carrier screening implementation were also collated by questionnaire.To increase awareness, religious leaders representing Islam, Buddhism, Christianity, Hinduism, and Judaism were also engaged.Results: To date, 296 community members have responded, with the majority of participants aged 25 to 44 years (range 18-54 years) and 57% identifying as female.Although most had not previously undergone reproductive carrier screening, 94% expressed interest in learning their carrier status.Concerns over potential insurance implications and increased medical appointments were the most common reasons for declining carrier testing.A large proportion of respondents (85%) indicated they would consider further testing if found to be at increased risk of having a child with a genetic condition, while 48% reported they may consider not having children.In addition to severe conditions, most respondents supported testing for late onset or mild genetic conditions.Among the 94 healthcare professional respondents, most acknowledged carrier screening will be routinely incorporated into clinical practice yet only half felt comfortable offering testing to patients.All religious leaders were supportive of carrier screening being offered to prospective parents.Conclusion: Overall, this preliminary data suggests that there is support for the expansion of carrier screening in Singapore from the perspectives of the community, healthcare providers and religious leaders.The responses also highlight key areas for educational initiatives and as well as insights into which genetic conditions to be considered for screening.These findings will help inform the design and implementation of a carrier screening program which is tailored, accessible and equitable for the Singaporean population.
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 | 0,001 |
| Études des sciences et des technologies | 0,000 | 0,000 |
| Communication savante | 0,000 | 0,000 |
| Science ouverte | 0,000 | 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 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 ».