Hodgson Shirley V, Popat Sanjay
St George's Hospital Medical School, and St George's Hospital, London.
Clin Med (Lond). 2003 May-Jun;3(3):260-4. doi: 10.7861/clinmedicine.3-3-260.
The ability to detect polymorphic DNA sequence variants poses both opportunities for improved healthcare and concerns about the ethical challenges and confidentiality issues involved. Many polymorphisms confer only minor variability in disease susceptibility, which are difficult to detect and quantify, and therefore of minor value for improving healthcare. Important exceptions are high penetrance but uncommon disease susceptibility mutations, and those altering drug metabolism, knowledge of which should influence medical management. The development of Biobank initiatives to promote the detection and evaluation of important polymorphic variants highlights the need to ensure appropriate confidentiality guarantees and continuing debate about the ethical issues.
检测多态性DNA序列变异的能力既为改善医疗保健带来了机遇，也引发了对相关伦理挑战和保密问题的担忧。许多多态性仅在疾病易感性方面带来微小变异，难以检测和量化，因此对改善医疗保健的价值不大。重要的例外情况是高外显率但罕见的疾病易感性突变，以及那些改变药物代谢的突变，了解这些突变应会影响医疗管理。旨在促进重要多态性变异检测和评估的生物样本库计划的开展，凸显了确保适当保密保障以及持续就伦理问题进行辩论的必要性。
