Smart Andrew, Bolnick Deborah A, Tutton Richard
Department of Sociology, Bath Spa University, Newton Park, Bath, BA2 9BN, UK.
Department of Anthropology, University of Texas at Austin, 2201 Speedway, Stop C3200, Austin, TX, 78712-1723, USA.
BMC Med Genomics. 2017 Jan 9;10(1):3. doi: 10.1186/s12920-016-0240-3.
It is becoming increasingly difficult to keep information about genetic ancestry separate from information about health, and consumers of genetic ancestry tests are becoming more aware of the potential health risks associated with particular ancestral lineages. Because some of the proposed associations have received little attention from oversight agencies and professional genetic associations, scientific developments are currently outpacing governance regimes for consumer genetic testing.
We highlight the recent and unremarked upon emergence of biomedical studies linking markers of genetic ancestry to disease risks, and show that this body of scientific research is becoming part of public discourse connecting ancestry and health. For instance, data on genome-wide ancestry informative markers are being used to assess health risks, and we document over 100 biomedical research articles that propose associations between mitochondrial DNA and Y chromosome markers of genetic ancestry and a wide variety of disease risks. Taking as an example an association between coronary heart disease and British men belonging to Y chromosome haplogroup I, we show how this science was translated into mainstream and online media, and how it circulates among consumers of genetic tests for ancestry. We find wide variations in how the science is interpreted, which suggests the potential for confusion or misunderstanding.
We recommend that stakeholders involved in creating and using estimates of genetic ancestry reconsider their policies for communicating with each other and with the public about the health implications of ancestry information.
将遗传血统信息与健康信息区分开来变得越来越困难，而遗传血统检测的消费者也越来越意识到特定祖先谱系所带来的潜在健康风险。由于一些提出的关联尚未受到监管机构和专业遗传协会的关注，目前科学发展的速度超过了消费者基因检测的治理体系。
我们着重指出了近期将遗传血统标记与疾病风险联系起来的生物医学研究的出现且未被注意到的情况，并表明这一科学研究正成为将血统与健康联系起来的公众话语的一部分。例如，全基因组血统信息标记的数据正被用于评估健康风险，我们记录了100多篇生物医学研究文章，这些文章提出了线粒体DNA和Y染色体遗传血统标记与多种疾病风险之间的关联。以冠心病与属于Y染色体单倍群I的英国男性之间的关联为例，我们展示了这一科学研究是如何转化为主流媒体和网络媒体的内容，以及它是如何在血统基因检测的消费者中传播的。我们发现对这一科学研究的解读存在很大差异，这表明存在混淆或误解的可能性。
我们建议，参与创建和使用遗传血统估计值的利益相关者重新考虑他们在相互之间以及与公众就血统信息的健康影响进行沟通的政策。
