Middleton Anna, Mendes Álvaro, Benjamin Caroline M, Howard Heidi Carmen
Society & Ethics Research Group, Connecting Science, Wellcome, Genome Campus, Cambridge, UK.
UnIGENe & Centre for Predictive & Preventive Genetics (CGPP), IBMC - Institute for Molecular & Cell Biology, i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Portugal.
Per Med. 2017 May;14(3):249-257. doi: 10.2217/pme-2017-0001. Epub 2017 May 11.
Direct-to-consumer genetic testing for disease ranges from well-validated diagnostic and predictive tests to 'research' results conferring increased risks. While being targeted at public curious about their health, they are also marketed for use in reproductive decision-making or management of disease. By virtue of being 'direct-to-consumer' much of this testing bypasses traditional healthcare systems. We argue that direct-to-consumer genetic testing companies should make genetic counseling available, pre- as well as post-test. While we do not advocate that mandatory genetic counseling should gate-keep access to direct-to-consumer genetic testing, if the testing process has the potential to cause psychological distress, then companies have a responsibility to provide support and should not rely on traditional healthcare systems to pick up the pieces. A video abstract is available for this article via this link .
针对疾病的直接面向消费者的基因检测范围广泛，从经过充分验证的诊断和预测性检测到显示风险增加的“研究”结果。这些检测虽然针对对自身健康感到好奇的公众，但也被推广用于生殖决策或疾病管理。由于是“直接面向消费者”，此类检测大多绕过了传统医疗保健系统。我们认为，直接面向消费者的基因检测公司应在检测前和检测后都提供遗传咨询服务。虽然我们不主张强制遗传咨询成为直接面向消费者的基因检测的准入门槛，但如果检测过程有可能造成心理困扰，那么公司有责任提供支持，而不应依赖传统医疗保健系统来收拾残局。通过此链接可获取本文的视频摘要。
