Department of Sociology & Anthropology, Ben-Gurion University of the Nagev, Beersheba, Israel.
Department of Sociology, UCLA, Los Angeles, CA.
Genet Med. 2022 Sep;24(9):1814-1820. doi: 10.1016/j.gim.2022.05.010. Epub 2022 Jun 2.
Although still in the early stages of development, the advent of fast, high-output, and cost-effective next-generation DNA sequencing technology is moving precision medicine into public health. Before this shift toward next-generation sequencing in public health settings, individual patients met geneticists after showing symptoms and through limited family screening. In the new era of precision public health, everyone is a possible participant in genetic sequencing, simply by being born (newborn screening), by donating blood (biobanking), or through population screening. These initiatives are increasingly offered to individuals throughout their life and more individuals are encountering opportunities to use DNA sequencing. This article raises awareness of these growing areas and calls for different models of public engagement and communication about genomics, including screening asymptomatic populations, obtaining consent for unspecified and unforeseen future uses of genomic data, and managing variants of uncertain significance. Given that such communication challenges loom large, established norms of practice in genomic medicine and research should be reconsidered.
尽管仍处于早期发展阶段，但快速、高产、成本效益高的新一代 DNA 测序技术的出现正在将精准医学推向公共卫生领域。在公共卫生环境中向新一代测序转变之前，个体患者在出现症状后并通过有限的家庭筛查来见遗传学家。在精准公共卫生的新时代，每个人都有可能通过出生（新生儿筛查）、献血（生物库）或通过人群筛查参与基因测序。这些举措越来越多地在个人的整个生命周期中提供给他们，更多的个人正在有机会使用 DNA 测序。本文提高了对这些不断发展的领域的认识，并呼吁采用不同的公众参与和沟通模式来开展基因组学研究，包括对无症状人群进行筛查、同意对未来未指定和不可预见的基因组数据的使用，并对意义不明的变异进行管理。鉴于此类沟通挑战迫在眉睫，应重新考虑基因组医学和研究中的既定实践规范。
