NEED OF GENETIC COUNSELING SERVICES AT DISTRICT D.I.KHAN
Notice bibliographique
Résumé
Genetic counseling is an advocating strategy based on family history and genetic testing results, in order to avoid inherited disorders and their transmission to next generation.1 For the first time Sarah Lawrence College at New York offered the first master’s level training course of genetic counseling in 1969. According to a recent estimate, seven thousand genetic counsellors in 28 different countries are offering their services in the field of medical genetics.4 Now-a-days, in the era of advance genomics, the genetic counseling services became more specialized as cancer genetics, cardiogenetics, neurogenetics, infertility genetics and other speciality areas. The clinical implementation of genetic counseling services in US, Canada, and European countries is well established. However, in Asia these only exist in India, Indonesia, Japan, Malaysia, Philippines, Singapore, South Korea, Taiwan and few Middle Eastern countries.4 As far as Pakistan is concerned, it is still in infancy in Pakistan, requiring great improvements to be done. Genetic counseling services are the dire need of those countries where consanguineous marriages are highly prevalent so as to reduce the burden of genetic disorders and improve the quality of life.2 Pakistan is one among those countries which has alarming rate of consanguineous marriages, especially first cousin unions.3 However, within Pakistan, Khyber-Pukhtunkhwa, including D.I.Khan division has comparatively high ratio of close familial marriages. Currently, D.I.Khan is inhabited by multi-ethnic population of local as well as those migrated from South Waziristan and other adjoining tribal areas. According to a non-documented evidence, it is observed that cancer, type-2 diabetes, thalassemia, cataract, and certain neurological disorders have high occurrence in these people. World Health Organization (WHO), in its report, has observed that genetic counseling services in developing countries are inadequate, and advised the governments to ensure, their availability as part of their healthcare systems.3,4 Keeping in view this scenario, D.I.Khan requires to establish a genetic counseling centre. It is proposed to set up genetic counseling centre with the mutual collaboration of Gomal University and Gomal Medical College, D.I.Khan that should advise the people regarding disease carrier testing, pharmacogenetics testing, pre-natal testing and pre-symptomatic testing. We also propose that each tertiary care hospital should engage a genetic counsellor to prevent the incidence of genetic disorders, select the best personalized medicine and pre-symptomatic management of disease.
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 machine sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Le volet Gemma est une étiquette directe du modèle pour chaque travail de la base, lue sur la notice réduite au titre. Le volet Codex est un classifieur appris des 10 348 étiquettes directes de Codex et calibré sur les taux pondérés de l'échantillon; les champs sans appui suffisant ne portent aucun appel Codex. Le mode candidate est l'union des deux volets; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont pas des étiquettes humaines.
Scores du classifieur distillé par catégorie (deux têtes)
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,000 | 0,001 |
| Méta-épidémiologie (sens strict) | 0,000 | 0,000 |
| Méta-épidémiologie (sens large) | 0,000 | 0,000 |
| Bibliométrie | 0,001 | 0,000 |
| Études des sciences et des technologies | 0,003 | 0,000 |
| Communication savante | 0,001 | 0,001 |
| Science ouverte | 0,001 | 0,002 |
| Intégrité de la recherche | 0,001 | 0,002 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,096 | 0,010 |
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 source (Gemma direct ou Codex distillé), 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 ».