Terek Shannon, Del Rosario Maya C, Hain Heather S, Connolly John J, Behr Meckenzie A, Harr Margaret, Hakonarson Hakon, Holm Ingrid A
Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.
J Pers Med. 2022 Nov 23;12(12):1945. doi: 10.3390/jpm12121945.
The electronic MEdical Records and GEnomics (eMERGE) consortium will return risk reports pertaining to specific diseases, a key component of which will be polygenic risk scores (PRS), to 25,000 participants, including 5000 children. Understanding comprehension and the perceived value of these PRS-based reports among parents will be critical for effective return of results in children. To address this issue, we conducted semi-structured interviews with 40 African American and Hispanic parents at The Children's Hospital of Philadelphia and Boston Children's Hospital. Each participant received a hypothetical risk report identifying their child as high risk for either type 2 diabetes or asthma. Participants were assessed on their comprehension of absolute versus relative risk framing, likelihood of following risk-reduction recommendations, perceived value of the information, psychosocial impact, education/support needed, and suggestions to improve the PRS-based report to make it more accessible. Results demonstrated high perceived value in receiving PRS-based reports but also draws attention to important shortfalls in comprehension due to factors including the health of the child, family history, and how the risk was framed. This study provides an insight into implementing the return of genomic risk scores in a pediatric setting.
电子病历与基因组学（eMERGE）联盟将向25000名参与者（包括5000名儿童）返还与特定疾病相关的风险报告，其中一个关键组成部分将是多基因风险评分（PRS）。了解家长对这些基于PRS的报告的理解程度和感知价值，对于有效地向儿童反馈结果至关重要。为解决这一问题，我们在费城儿童医院和波士顿儿童医院对40名非裔美国人和西班牙裔家长进行了半结构化访谈。每位参与者都收到一份假设的风险报告，将他们的孩子确定为2型糖尿病或哮喘的高风险人群。我们评估了参与者对绝对风险与相对风险框架的理解、遵循风险降低建议的可能性、信息的感知价值、心理社会影响、所需的教育/支持，以及改进基于PRS的报告以使其更易于理解的建议。结果表明，参与者对收到基于PRS的报告有很高的感知价值，但也凸显了由于儿童健康状况、家族病史以及风险框架呈现方式等因素导致的理解方面的重要不足。这项研究为在儿科环境中实施基因组风险评分反馈提供了见解。
