Attitudes among Parents towards Return of Disease-Related Polygenic Risk Scores (PRS) for Their Children.
Attitudes among Parents towards Return of Disease-Related Polygenic Risk Scores (PRS) for Their Children.
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DOI：
10.3390/jpm12121945
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发表时间：
2022-11-23
影响因子：
--
通讯作者：
Holm, Ingrid A.
中科院分区：
文献类型：
--
作者：
Terek, Shannon;Del Rosario, Maya C.;Hain, Heather S.;Connolly, John J.;Behr, Meckenzie A.;Harr, Margaret;Hakonarson, Hakon;Holm, Ingrid A.
电子医学记录和基因组学（eMERGE）联盟将向25,000名参与者（包括5000名儿童）返回与特定疾病有关的风险报告，其中一个关键组成部分是多基因风险评分（PRS）。家长对这些基于减贫战略的报告的理解、理解和感知价值，对于在儿童中有效地返回结果至关重要。为了解决这个问题，我们在费城儿童医院和波士顿儿童医院对40名非洲裔美国人和西班牙裔父母进行了半结构化访谈。每个参与者都收到了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。评估参与者对绝对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的报告以使其更容易获得的建议。结果表明，高感知值接收PRS为基础的报告，但也提请注意重要的不足之处，由于因素，包括儿童的健康，家族史，以及风险是如何制定的理解。这项研究提供了一个深入了解在儿科环境中实施基因组风险评分的回报。
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.
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DOI：
10.1016/j.jpeds.2018.09.021
发表时间：
2019-03
期刊：
The Journal of pediatrics
影响因子：
--
作者：
Ghandour RM;Sherman LJ;Vladutiu CJ;Ali MM;Lynch SE;Bitsko RH;Blumberg SJ
通讯作者：
Blumberg SJ
影响因子：
5.5
作者：
Fisher, Edwin B.;Fitzgibbon, Marian L.;Ockene, Judith K.
通讯作者：
Ockene, Judith K.
影响因子：
5.7
作者：
NIGHTINGALE, SD
通讯作者：
NIGHTINGALE, SD
影响因子：
3.8
作者：
Persky, Susan;Yaremych, Haley E.;Hollister, Brittany M.
通讯作者：
Hollister, Brittany M.
DOI：
10.1080/15374416.2017.1417860
发表时间：
2018-03
期刊：
Journal of clinical child and adolescent psychology : the official journal for the Society of Clinical Child and Adolescent Psychology, American Psychological Association, Division 53
影响因子：
--
作者：
Danielson ML;Bitsko RH;Ghandour RM;Holbrook JR;Kogan MD;Blumberg SJ
通讯作者：
Blumberg SJ