تفاصيل الوثيقة
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نوع الوثيقة |
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مقال في مجلة دورية |
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عنوان الوثيقة |
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نسبة انتشار العامل V Leiden والطفرة الجينية G20210Aلتخثر الدم. Correspondence re: Prevalence of factor V Leiden and prothrombin G20210A gene mutation |
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لغة الوثيقة |
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الانجليزية |
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المستخلص |
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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.
نناقش موضوع عمل الأبحاث الجينية في الأطفال في حالة الطفرات التي لا تؤدي إلى ظهور الأعراض في مرحلة الصغر وما يخص ذلك من ناحية الأخلاق الطبية لما لهذا النوع من الاختبارات من تأثيرات سلبية على الأطفال. |
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ردمد |
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0379-5284 |
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اسم الدورية |
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المجلة الطبية السعودية |
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المجلد |
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26 |
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العدد |
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11 |
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سنة النشر |
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2005 هـ
2005 م |
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نوع المقالة |
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مقالة علمية |
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تاريخ الاضافة على الموقع |
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Wednesday, March 3, 2010 |
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الباحثون
| جمانة الاعمى | Al-Aama, Jumana | باحث | دكتوراه | |
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الرجوع إلى صفحة الأبحاث
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