Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA.
Department of Internal Medicine, Division of Epidemiology, University of Utah, School of Medicine, Salt Lake City, Utah, USA; Informatics, Decision-Enhancement, and Analytical Sciences Center of Innovation, Salt Lake City VA Healthcare System, Salt Lake City, Utah, USA.
Clin Ther. 2023 Aug;45(8):719-728. doi: 10.1016/j.clinthera.2023.06.001. Epub 2023 Aug 11.
With advances in genome sequencing technologies, large-scale genome-wide sequencing has advanced our understanding of disease risk and etiology and contributes to the rapidly expanding genomic health services in pediatric settings. Because it is possible to return ancestry estimates following clinical genomic sequencing, it is important to understand the interest in ancestry results among families who may have the option of receiving these results.
We conducted 26 semi-structured qualitative telephone interviews of parents with children/newborns with likely genetic conditions from two studies of clinical genome sequencing. Using a purposive sampling approach, we selected parents from the SouthSeq cohort, Clinical Sequencing Evidence-Generating Research (CSER Phase 2) project active in Alabama, Mississippi, and Louisiana, or an earlier Clinical Sequencing Exploratory Research (CSER Phase 1) initiative based in the same region. Our interviews focused on parental knowledge about, attitudes on, interest in, and preferences for receiving genetic ancestry results following clinical genome sequencing in the neonatal intensive care unit or in pediatric clinics.
Overall, parents prioritized clinical results or results that would help guide the diagnosis and treatment of their child, but they were also interested in any genetic result, including genetic ancestry, that potentially could enhance the meaning of information on disease risk, prevention and screening guidance, or family planning. While parents thought that ancestry results would help them learn about themselves and their heritage, the had concerns over the privacy, security, and accuracy of genetic ancestry information, although parents indicated that they had greater trust in ancestry findings provided as part of clinical care compared with those offered commercially. Parents also wanted ancestry results to be returned in a timely manner by knowledgeable staff, with kid-friendly materials and online tools available to aid, as needed, in the understanding of their results.
Taken together, our results highlight that despite being in high-stress situations, such as having a newborn in the neonatal intensive care unit, parents were interested in receiving genetic ancestry results along with their clinically relevant findings.
随着基因组测序技术的进步，大规模全基因组测序提高了我们对疾病风险和病因的认识，并促进了儿科领域快速扩展的基因组健康服务。由于在进行临床基因组测序后可以返回祖先估计值，因此了解可能选择接收这些结果的家庭对祖先结果的兴趣非常重要。
我们对来自两项临床基因组测序研究的有遗传疾病可能性的儿童/新生儿的父母进行了 26 次半结构式定性电话访谈。我们采用有目的的抽样方法，从南测序队列（SouthSeq）、在阿拉巴马州、密西西比州和路易斯安那州开展的临床测序证据生成研究（CSER 第二阶段）项目，或在同一地区开展的较早的临床测序探索性研究（CSER 第一阶段）项目中选择父母。我们的访谈重点关注父母对临床基因组测序后在新生儿重症监护病房或儿科诊所中获得遗传祖先结果的了解、态度、兴趣和偏好。
总体而言，父母优先考虑临床结果或有助于指导其孩子诊断和治疗的结果，但他们也对任何遗传结果（包括遗传祖先）感兴趣，这些结果可能增强有关疾病风险、预防和筛查指导或计划生育的信息的意义。虽然父母认为祖先结果将帮助他们了解自己和自己的传统，但他们对遗传祖先信息的隐私、安全和准确性表示担忧，尽管父母表示，他们更信任作为临床护理一部分提供的祖先发现，而不是商业上提供的发现。父母还希望能由知识渊博的工作人员及时返回祖先结果，并提供适合儿童的材料和在线工具，以在需要时帮助他们理解结果。
总的来说，我们的结果表明，尽管父母处于新生儿重症监护病房等高压环境中，但他们仍对与临床相关的发现一起获得遗传祖先结果感兴趣。
