Predham Sarah, Hamilton Sara, Elliott Alison M, T Gibson William
Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
Child and Family Research Institute, Vancouver, BC, Canada.
J Genet Couns. 2016 Feb;25(1):25-31. doi: 10.1007/s10897-015-9882-0. Epub 2015 Aug 30.
We report the case of a woman who pursued direct access genetic testing and then presented with concerns regarding a positive test result for Long-QT syndrome. Although the result ultimately proved to be a false positive, this case illustrates that costs associated with follow-up of direct access genetic testing results can be non-trivial for both the patient and for health care systems. Here we raise policy questions regarding the appropriate distribution of these costs. We also discuss the possibility that, when confronted by a direct access genetic test result that reports high risk for one or more actionable diseases, a family physician might feel compelled to act out of a desire to avoid liability, even when information regarding the accuracy and validity of the testing were not easily accessible. This case outlines lessons that can easily be translated into clinical practice, not only by genetic counselors, but also by family physicians, medical specialists and members of the public.
我们报告了一例女性病例，该女性进行了直接获取式基因检测，之后对长QT综合征检测结果呈阳性表示担忧。尽管结果最终被证明是假阳性，但该病例表明，对于患者和医疗保健系统而言，直接获取式基因检测结果后续跟进的相关成本可能相当可观。在此，我们提出了有关这些成本合理分配的政策问题。我们还讨论了这样一种可能性，即当面对直接获取式基因检测结果显示一种或多种可采取行动的疾病高风险时，家庭医生可能会出于避免责任的愿望而感到不得不采取行动，即便关于检测准确性和有效性的信息并不容易获取。本病例概述了一些经验教训，这些经验教训不仅可以被遗传咨询师，也可以被家庭医生、医学专家和公众轻松应用于临床实践。
