Skirton Heather
Faculty of Health and Human Sciences, Plymouth University, Drake Circus, Plymouth, PL4 8AA, United Kingdom,
Life Sci Soc Policy. 2015;11:4. doi: 10.1186/s40504-014-0018-3. Epub 2015 Apr 29.
Direct to consumer genetic testing offered via the Internet has been available for over a decade. Initially most tests of this type were offered without the input of the consumer's own health professional. Ethical and practical concerns have been a raised over the use of such tests: these include fulfilling the requirement for informed consent, utility of results for health care management and the potential burden placed upon health services by people who have taken tests.These tests now have an application in reproductive healthcare. The advent of non-invasive prenatal testing has facilitated the genetic testing of the fetus using only a maternal blood sample. However, companies offering such tests, for example for aneuploidy, appear to be doing so based on a referral from the mother's health professional. Preconception or prenatal carrier testing for a range of autosomal recessive conditions can be purchased without the input of a health professional who knows the prospective parents. However, unless the appropriate mutations for the specific population are included in the test, results may create false reassurance. Paternity testing without the consent of the putative father is also available via the Internet, as are tests to ascertain the sex of the fetus, which may be used to select children of a specific gender.Direct-to-consumer tests may support prospective parents to identify genetic risk to their future children, however, it is important that they are aware of the possible limitations, as well as advantages, of these tests. National regulation may not prove effective in ensuring the safety of all individuals involved, therefore international pressure to ensure companies conform to Codes of Practice may be needed, especially in relation to tests that could influence reproductive decisions. However, health professionals have a duty to ensure they are sufficiently knowledgeable to enable them to guide patients appropriately.
通过互联网提供的直接面向消费者的基因检测已经存在了十多年。最初,这类检测大多在没有消费者自身健康专业人员参与的情况下提供。对于此类检测的使用,人们提出了伦理和实际方面的担忧:这些担忧包括满足知情同意的要求、检测结果在医疗管理中的效用以及接受检测的人给医疗服务带来的潜在负担。这些检测现在在生殖健康护理中有应用。非侵入性产前检测的出现使得仅使用孕妇血液样本就能对胎儿进行基因检测。然而,提供此类检测(例如用于检测非整倍体)的公司似乎是基于母亲健康专业人员的转诊来进行检测的。对于一系列常染色体隐性疾病的孕前或产前携带者检测,可以在没有了解准父母情况的健康专业人员参与的情况下购买。然而,除非检测中包含特定人群的适当突变,否则结果可能会带来错误的安心感。未经推定父亲同意的亲子鉴定也可以通过互联网进行,确定胎儿性别的检测也可以,而胎儿性别检测可能被用于选择特定性别的孩子。直接面向消费者的检测可能会帮助准父母识别其未来孩子的遗传风险,然而,重要的是他们要意识到这些检测可能存在的局限性以及优势。国家监管可能无法有效确保所有相关人员的安全,因此可能需要国际社会施加压力,以确保公司遵守行为准则,特别是对于那些可能影响生殖决策的检测。然而,健康专业人员有责任确保自己具备足够的知识,以便能够适当地指导患者。