McGowan Michelle L, Fishman Jennifer R, Settersten Richard A, Lambrix Marcie A, Juengst Eric T
Department of Bioethics, Case Western Reserve University School of Medicine, Cleveland, Ohio, United States of America.
Biomedical Ethics Unit, McGill University Faculty of Medicine, Montreal, Quebec, Canada.
PLoS One. 2014 Sep 26;9(9):e108484. doi: 10.1371/journal.pone.0108484. eCollection 2014.
Many commentators on "direct-to-consumer" genetic risk information have raised concerns that giving results to individuals with insufficient knowledge and training in genomics may harm consumers, the health care system, and society. In response, several commercial laboratories offering genomic risk profiling have shifted to more traditional "direct-to-provider" (DTP) marketing strategies, repositioning clinicians as the intended recipients of advertising of laboratory services and as gatekeepers to personal genomic information. Increasing popularity of next generation sequencing puts a premium on ensuring that those who are charged with interpreting, translating, communicating and managing commercial genomic risk information are appropriately equipped for the job. To shed light on their gatekeeping role, we conducted a study to assess how and why early clinical users of genomic risk assessment incorporate these tools in their clinical practices and how they interpret genomic information for their patients.
We conducted qualitative in-depth interviews with 18 clinicians providing genomic risk assessment services to their patients in partnership with DNA Direct and Navigenics. Our findings suggest that clinicians learned most of what they knew about genomics directly from the commercial laboratories. Clinicians rely on the expertise of the commercial laboratories without the ability to critically evaluate the knowledge or assess risks.
DTP service delivery model cannot guarantee that providers will have adequate expertise or sound clinical judgment. Even if clinicians want greater genomic knowledge, the current market structure is unlikely to build the independent substantive expertise of clinicians, but rather promote its continued outsourcing. Because commercial laboratories have the most "skin in the game" financially, genetics professionals and policymakers should scrutinize the scientific validity and clinical soundness of the process by which these laboratories interpret their findings to assess whether self-interested commercial sources are the most appropriate entities for gate-keeping genomic interpretation.
许多评论“直接面向消费者”的基因风险信息的人士担心，向在基因组学方面知识和培训不足的个人提供检测结果可能会损害消费者、医疗保健系统和社会。作为回应，几家提供基因组风险评估的商业实验室已转向更传统的“直接面向提供者”（DTP）营销策略，将临床医生重新定位为实验室服务广告的目标受众以及个人基因组信息的把关人。下一代测序技术越来越普及，这就要求确保那些负责解读、转化、传达和管理商业基因组风险信息的人员具备相应的能力。为了阐明他们的把关作用，我们开展了一项研究，以评估基因组风险评估的早期临床用户如何以及为何将这些工具纳入其临床实践，以及他们如何为患者解读基因组信息。
我们对18名与DNA Direct和Navigenics合作，为患者提供基因组风险评估服务的临床医生进行了定性深入访谈。我们的研究结果表明，临床医生关于基因组学的大部分知识是直接从商业实验室学到的。临床医生依赖商业实验室的专业知识，却没有能力批判性地评估这些知识或评估风险。
DTP服务提供模式无法保证提供者具备足够的专业知识或合理的临床判断力。即使临床医生希望获得更多的基因组知识，当前的市场结构也不太可能培养临床医生独立的实质性专业知识，反而会促使其继续外包。由于商业实验室在财务上的利益关系最大，遗传学专业人员和政策制定者应仔细审查这些实验室解读其研究结果的过程的科学有效性和临床合理性，以评估自身利益驱动的商业机构是否是基因组解读把关的最合适实体。
