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Attitudes among Parents towards Return of Disease-Related Polygenic Risk Scores (PRS) for Their Children

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-ba...

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Autores principales: Terek, Shannon, Del Rosario, Maya C., Hain, Heather S., Connolly, John J., Behr, Meckenzie A., Harr, Margaret, Hakonarson, Hakon, Holm, Ingrid A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9786589/
https://www.ncbi.nlm.nih.gov/pubmed/36556166
http://dx.doi.org/10.3390/jpm12121945
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author Terek, Shannon
Del Rosario, Maya C.
Hain, Heather S.
Connolly, John J.
Behr, Meckenzie A.
Harr, Margaret
Hakonarson, Hakon
Holm, Ingrid A.
author_facet Terek, Shannon
Del Rosario, Maya C.
Hain, Heather S.
Connolly, John J.
Behr, Meckenzie A.
Harr, Margaret
Hakonarson, Hakon
Holm, Ingrid A.
author_sort Terek, Shannon
collection PubMed
description 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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spelling pubmed-97865892022-12-24 Attitudes among Parents towards Return of Disease-Related Polygenic Risk Scores (PRS) for Their Children Terek, Shannon Del Rosario, Maya C. Hain, Heather S. Connolly, John J. Behr, Meckenzie A. Harr, Margaret Hakonarson, Hakon Holm, Ingrid A. J Pers Med Article 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. MDPI 2022-11-23 /pmc/articles/PMC9786589/ /pubmed/36556166 http://dx.doi.org/10.3390/jpm12121945 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Terek, Shannon
Del Rosario, Maya C.
Hain, Heather S.
Connolly, John J.
Behr, Meckenzie A.
Harr, Margaret
Hakonarson, Hakon
Holm, Ingrid A.
Attitudes among Parents towards Return of Disease-Related Polygenic Risk Scores (PRS) for Their Children
title Attitudes among Parents towards Return of Disease-Related Polygenic Risk Scores (PRS) for Their Children
title_full Attitudes among Parents towards Return of Disease-Related Polygenic Risk Scores (PRS) for Their Children
title_fullStr Attitudes among Parents towards Return of Disease-Related Polygenic Risk Scores (PRS) for Their Children
title_full_unstemmed Attitudes among Parents towards Return of Disease-Related Polygenic Risk Scores (PRS) for Their Children
title_short Attitudes among Parents towards Return of Disease-Related Polygenic Risk Scores (PRS) for Their Children
title_sort attitudes among parents towards return of disease-related polygenic risk scores (prs) for their children
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9786589/
https://www.ncbi.nlm.nih.gov/pubmed/36556166
http://dx.doi.org/10.3390/jpm12121945
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