Mason Matthew, Levenson James, Quillin John
Virginia Commonwealth University School of Medicine , Richmond, Virginia.
Genet Test Mol Biomarkers. 2017 Aug;21(8):456-463. doi: 10.1089/gtmb.2017.0087. Epub 2017 Jul 11.
Since the introduction of the Orphan Drug Act (ODA) in 1983, orphan drug approvals in the United States have jumped from <100 per decade to over 200 per year. This growth is widely attributed to the financial incentives the ODA gives to companies that develop these medicines, and it is likely to continue for a unique reason: partnerships between pharmaceutical firms and direct-to-consumer (DTC) genetic testing companies. This emerging trend is the subject of this article, which begins by considering how rare-disease drugs are regulated and the rising interest in nonclinical genetic testing. It then outlines how DTC companies analyze DNA and how their techniques benefit researchers and drug developers. Then, after an overview of the current partnerships between DTCs and drug developers, it examines concerns about privacy and cost brought up by these partnerships. The article concludes by contrasting the enormous positive potential of DTC-pharma relationships and their concomitant dangers, especially to consumer privacy and cost to the healthcare system.
自1983年《孤儿药法案》（ODA）出台以来，美国孤儿药的获批数量已从每十年不到100种跃升至每年超过200种。这种增长广泛归因于《孤儿药法案》给予开发这些药物的公司的经济激励，而且由于一个独特的原因，这种增长可能会持续下去：制药公司与直接面向消费者（DTC）的基因检测公司之间的合作关系。这种新兴趋势是本文的主题，文章首先探讨了罕见病药物的监管方式以及对非临床基因检测兴趣的不断上升。接着概述了DTC公司如何分析DNA以及它们的技术如何使研究人员和药物开发者受益。然后，在概述了DTC公司与药物开发者之间目前的合作关系之后，文章审视了这些合作关系引发的对隐私和成本的担忧。文章最后对比了DTC与制药公司合作关系的巨大积极潜力及其带来的危险，尤其是对消费者隐私和医疗保健系统成本的影响。
