Westmead Psychotherapy Program and University of Sydney, Building 112, Cumberland Hospital, 5 Fleet St, North Parramatta, NSW, 2151, Australia.
J Bioeth Inq. 2017 Dec;14(4):591-592. doi: 10.1007/s11673-017-9818-5. Epub 2017 Nov 8.
The case of Jordan (Mason 2017) highlights the gamble of connecting with the past through genomic testing. Unfortunately for Jordan, his genomic testing identified two variant genes which account for up to 75 per cent of early-onset Alzheimer's disease cases. Furthermore, his children were identified as having a 50 per cent risk of inheriting the gene which corresponds to the majority of early-onset Alzheimer's disease cases. Now Jordan is not only burdened with the foreknowledge that he will most likely develop Alzheimer's disease at a relatively young age but also burdened with the knowledge that his children may share his fate. Jordan was overwhelmed by his attempts to understand the genetic tests and experienced substantial distress. This response highlights the need for industry-wide regulations that adequately prepare individuals for the decision of whether to initiate genomic testing and require the results to be interpreted with genetic counsellors or other suitably skilled doctors. Furthermore, these industry-wide regulations need to be accountable to the same evidence-based standards that regulate the rest of the medical professions.
案例乔丹（梅森 2017 年）突出了通过基因组测试与过去联系的风险。不幸的是，乔丹的基因测试确定了两个变异基因，这些基因占早发性阿尔茨海默病病例的 75%。此外，他的孩子被确定有 50%的风险遗传导致大多数早发性阿尔茨海默病的基因。现在，乔丹不仅背负着很可能在相对年轻的时候患上阿尔茨海默病的先见之明，还背负着他的孩子可能会和他有同样命运的认知。乔丹被试图理解基因测试的过程所淹没，并经历了巨大的痛苦。这种反应凸显了需要进行全行业的监管，为个人是否启动基因组测试的决定做好充分准备，并要求结果必须由遗传咨询师或其他具有适当技能的医生进行解读。此外，这些全行业的监管规定需要对监管其他医疗行业的基于证据的标准负责。
