Obstet Gynecol. 2017 Nov;130(5):e270-e273. doi: 10.1097/AOG.0000000000002401.
With the increased emphasis on patient-driven health care and readily available access to patients through the internet and media, many genetic testing companies have begun to market directly to consumers. Direct-to-consumer genetic testing raises unique concerns and considerations, including limited knowledge among patients and health care providers of available genetic tests, difficulty in interpretation of genetic test results, lack of oversight of companies that offer genetic testing, and issues of privacy and confidentiality. When undergoing any direct-to-consumer genetic testing, the consumer should be apprised of risk from screening or susceptibility test results that can neither prove nor eliminate disease potential. Because ordering an appropriate genetic test and interpretation of genetic test results are complex, an obstetrician-gynecologist or other health care provider with knowledge of genetics should be involved in ordering and interpreting the results of any genetic test with medical implications. When an individual presents test results to a health care provider from a direct-to-consumer genomic test that putatively assesses the risk of specific diseases, the patient should be referred to an obstetrician-gynecologist or other health care provider who is skilled in risk assessment for the diseases of interest and interpretation of genetic testing results in the context of the individual's relevant medical and family history. Because of these considerations and in view of the fact that the interpretation of the results requires specific training and medical knowledge, direct-to-consumer genetic testing should be discouraged because of the potential harm of a misinterpreted or inaccurate result.
随着患者驱动型医疗保健的重视程度不断提高,以及通过互联网和媒体随时为患者提供服务,许多基因检测公司已开始直接面向消费者进行营销。直接面向消费者的基因检测带来了独特的关注和考虑因素,包括患者和医疗保健提供者对可用基因检测的了解有限、基因检测结果的解释困难、提供基因检测的公司缺乏监督,以及隐私和保密问题。当进行任何直接面向消费者的基因检测时,消费者应该了解筛查或易感性检测结果带来的风险,这些结果既不能证明也不能消除疾病的潜在风险。由于订购适当的基因检测和解释基因检测结果非常复杂,因此,应该让具有遗传学知识的妇产科医生或其他医疗保健提供者参与订购和解释具有医学意义的任何基因检测的结果。当个体向医疗保健提供者展示来自直接面向消费者的基因组检测的检测结果,该检测结果据称可以评估特定疾病的风险时,应将患者转介给擅长评估感兴趣疾病风险和在个体相关医学和家族史背景下解释基因检测结果的妇产科医生或其他医疗保健提供者。由于这些考虑因素以及鉴于解释结果需要特定的培训和医学知识,应劝阻直接面向消费者的基因检测,因为误读或不准确的结果可能会带来潜在危害。