NEED OF GENETIC COUNSELING SERVICES AT DISTRICT D.I.KHAN
Bibliographic record
Abstract
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.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.003 | 0.000 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.002 |
| Research integrity | 0.001 | 0.002 |
| Insufficient payload (model declined to judge) | 0.096 | 0.010 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".