Correspondence re: Prevalence of factor V Leiden and prothrombin G20210A gene mutation
Bibliographic record
Abstract
I have read the article “Prevalence of factor V Leiden and Prothrombin G20210A gene mutation”by Irdem et al with great interest and appreciate the authors’ efforts. However, I was concerned that the study was carried out on children and adolescents rather than adults. It is recommended that predictive genetic testing should only be performed on children if it is in their best interest. This view is shared by most leading authorities in Medical Genetics including the American society of Human Genetics, the American College of Medical Genetics, and the Canadian Collage of Medical Genetics, in addition to guidelines set forth by the American Medical Association, the American Academy of Pediatrics and the Canadian Pediatric Society. Genetic testing of asymptomatic children for adult onset disorders is discouraged for various reasons including: removing the child’s right to confidentiality, changing the family’s perception of the child, potential damage of self-esteem, anxiety generation, enabling social stigmatization, production of parental obligation to determine the right time to inform the child, enabling discrimination (education, employment, insurance) and removing the opportunity for gradual adaptation to potential disease. Its is therefore endorsed that the main justification for genetic testing in children should be timely medical benefit to the child involved. Even in Adults, DNA testing for asymptomatic individuals has many drawbacks and requires careful pre-testing genetic counseling by an experienced professional to ensure the patient understands the pros and cons of testing, including the potential harms involved before proceeding future. I did not see anything in the methods section regarding genetic counseling of the subjects or their caregivers prior to testing. This may have been carried out but not written. I consider the possibility that perhaps the patients were never informed pf the result, therefore, removing the necessity of counseling and the potential harm of testing. If that is the case, I would still recommend that this be mentioned especially in a Medical Journal with such a wide range of readers, most of whom were not in the genetics field, as this may send the inappropriate message that genetic testing of asymptomatic children or adults is with no restrictions.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.004 | 0.006 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.001 |
| Insufficient payload (model declined to judge) | 0.010 | 0.000 |
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 teacher head, 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".