Boston University School of Public Health, 801 Massachusetts Avenue, Boston, MA 02118, USA.
Slone Epidemiology Center at Boston University, 72 East Concord St, L-7, Boston, MA 02118, USA.
Contemp Clin Trials. 2023 Sep;132:107309. doi: 10.1016/j.cct.2023.107309. Epub 2023 Jul 27.
A central challenge to precision medicine research efforts is the return of genetic research results in a manner that is effective, ethical, and efficient. Formal tests of alternate modalities are needed, particularly for racially marginalized populations that have historically been underserved in this context.
We are conducting a randomized controlled trial (RCT) to test scalable modalities for results return and to examine the clinical utility of returning genetic research results to a research cohort of Black women. The primary aim is to compare the efficacy of two communication modalities for results return: 1) a conventional modality that entails telephone disclosure by a Board-certified genetic counselor, and 2) an online self-guided modality that entails results return directly to participants, with optional genetic counselor follow-up via telephone. The trial is being conducted among participants in the Black Women's Health Study (BWHS), where targeted sequencing of 4000 participants was previously completed.
Several ethical, legal, and social implications (ELSI) and challenges presented, which necessitated substantial revision of the original study protocol. Challenges included chain of custody, re-testing of research results in a CLIA lab, exclusion of VUS results, and digital literacy. Bioethical principles of autonomy, justice, non-maleficence, and beneficence were considered in the design of the study protocol.
This study is uniquely situated to provide critical evidence on the effectiveness of alternative models for genetic results return and provide further insight into the factors influencing access and uptake of genetic information among U.S. Black women.
gov: NCT04407611.
精准医学研究的一个核心挑战是有效地、合乎道德地和高效地返回遗传研究结果。需要对替代模式进行正式测试，特别是对于在这种情况下历史上服务不足的种族边缘化人群。
我们正在进行一项随机对照试验（RCT），以测试可扩展的结果返回模式，并研究将遗传研究结果返回给黑人女性研究队列的临床实用性。主要目的是比较两种结果返回沟通模式的效果：1）传统模式，即由董事会认证的遗传咨询师进行电话披露，2）在线自我指导模式，即直接将结果返回给参与者，并可通过电话选择遗传咨询师进行跟进。该试验正在参加黑人妇女健康研究（BWHS）的参与者中进行，此前已经对 4000 名参与者进行了靶向测序。
出现了一些伦理、法律和社会影响（ELSI）和挑战，这需要对原始研究方案进行大量修改。挑战包括监管链、在 CLIA 实验室重新测试研究结果、排除 VUS 结果以及数字素养。在研究方案的设计中考虑了自主、公正、不伤害和受益的生物伦理原则。
这项研究的独特之处在于，它可以提供有关遗传结果返回替代模式有效性的关键证据，并进一步深入了解影响美国黑人妇女获取和接受遗传信息的因素。
gov：NCT04407611。
