Genetic counselling in India: The state of affairs
Notice bibliographique
Résumé
The literature review by Ulhaq et al. has very rightly touched upon a topic of great value in today’s era of precision oncology.[1] Next-generation sequencing (NGS) panels test for mutations in a large number of genes, increasing the yield of pathogenic, and likely pathogenic gene variants.[2] This has increased the detection rate of mutations responsible for hereditary cancer syndromes.[2,3] The number of genetic counselors in India does not parallel this demand, and there is a huge unmet need. Abacan et al. in their 2019 analysis titled, “The Global State of the Genetic Counseling Profession” have highlighted this unmet need.[4] The genetic counseling program in India was started in 2007, and there are only approximately 76 genetic counselors to serve a population of 1.3 billion people. On the contrary, the genetic counseling program in the United States was started in 1969, and the number of genetic counselors is around 4000 for a population of 0.3 billion people.[4] The cancer predisposition syndrome (CPS) screening tools, especially Jongman’s criteria and its modified version (Jongman’s Modified Criteria [JMC]) deserve a mention.[5] Jongman’s criteria is the most widely used screening tool for patients suspected to have a CPS.[5] While the Childhood Cancer Screening Checklist (CSCC) and the McGill Interactive Pediatric Oncogenetic Guidelines (MIPOGG) screening tools focus only on the morphological evaluation of the patients, Jongman’s criteria and JMC focus on the family history and type of malignancy as well. Jongman’s criteria and JMC are the only screening tools that refer patients to a genetic counselor when they have suffered excessive cancer treatment-related toxicities or have tumors with genetic defects suggestive of a CPS. JMC assesses a wider list of CPS-associated tumors, and their questionnaire has been validated by Schwermer et al. in the German case-control study on newly diagnosed pediatric cancer patients.[6] The prevalence of CPS diagnosed with the help of the questionnaire was 9.4% as compared to the historical control group of 5.3%. Lastly, the psychosocial impact and patient perspectives are important topics related to genetic testing. A systematic review of 47 studies between the years 2000 and 2016 (20 of which dealt with cancer) was published by Oliveri et al. in 2018.[7] The team focused on assessing the psychological aspects (predominantly anxiety and depression) of genetic testing on patients and their relatives. The data revealed that genetic testing did not significantly increase patients’ distress and anxiety or hamper their quality of life. The genetic information was perceived by the patients as important preventive data aiding the ongoing treatment.[7] Nevertheless, genetic counselling needs strong psychological support which should take into account the patients’ basic literacy, understanding of the risks, and beliefs about the disease process. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.
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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 | 0,000 | 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 | 0,000 | 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 ».