Eliciting parental preferences and values for the return of additional findings from genomic sequencing.

IF 4.7 2区医学 Q1 GENETICS & HEREDITY

NPJ Genomic Medicine Pub Date : 2024-02-14 DOI:10.1038/s41525-024-00399-8

Ilias Goranitis, Yan Meng, Melissa Martyn, Stephanie Best, Sophie Bouffler, Yvonne Bombard, Clara Gaff, Zornitza Stark

{"title":"Eliciting parental preferences and values for the return of additional findings from genomic sequencing.","authors":"Ilias Goranitis, Yan Meng, Melissa Martyn, Stephanie Best, Sophie Bouffler, Yvonne Bombard, Clara Gaff, Zornitza Stark","doi":"10.1038/s41525-024-00399-8","DOIUrl":null,"url":null,"abstract":"<p><p>Health economic evidence is needed to inform the design of high-value and cost-effective processes for returning genomic results from analyses for additional findings (AF). This study reports the results of a discrete-choice experiment designed to elicit preferences for the process of returning AF results from the perspective of parents of children with rare conditions and to estimate the value placed on AF analysis. Overall, 94 parents recruited within the Australian Genomics and Melbourne Genomics programmes participated in the survey, providing preferences in a total of 1128 choice scenarios. Statistically significant preferences were identified for the opportunity to change the choices made about AF; receiving positive AF in person from a genetic counsellor; timely access to a medical specialist and high-quality online resources; receiving automatic updates through a secure online portal if new information becomes available; and lower costs. For AF uptake rates ranging between 50-95%, the mean per person value from AF analysis was estimated at AU$450-$1700 (US$300-$1140). The findings enable the design of a value-maximising process of analysis for AF in rare-disease genomic sequencing.</p>","PeriodicalId":19273,"journal":{"name":"NPJ Genomic Medicine","volume":"9 1","pages":"10"},"PeriodicalIF":4.7000,"publicationDate":"2024-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10867021/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"NPJ Genomic Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1038/s41525-024-00399-8","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}

引用次数: 0

Abstract

Health economic evidence is needed to inform the design of high-value and cost-effective processes for returning genomic results from analyses for additional findings (AF). This study reports the results of a discrete-choice experiment designed to elicit preferences for the process of returning AF results from the perspective of parents of children with rare conditions and to estimate the value placed on AF analysis. Overall, 94 parents recruited within the Australian Genomics and Melbourne Genomics programmes participated in the survey, providing preferences in a total of 1128 choice scenarios. Statistically significant preferences were identified for the opportunity to change the choices made about AF; receiving positive AF in person from a genetic counsellor; timely access to a medical specialist and high-quality online resources; receiving automatic updates through a secure online portal if new information becomes available; and lower costs. For AF uptake rates ranging between 50-95%, the mean per person value from AF analysis was estimated at AU$450-$1700 (US$300-$1140). The findings enable the design of a value-maximising process of analysis for AF in rare-disease genomic sequencing.

Abstract Image

查看原文本刊更多论文

了解父母对基因组测序额外结果回报的偏好和价值。

我们需要健康经济学证据来为设计高价值、高成本效益的流程提供信息，以便从分析中返还基因组结果以获得额外发现（AF）。本研究报告了一项离散选择实验的结果，该实验旨在从罕见病患儿家长的角度了解他们对返还 AF 结果流程的偏好，并估算 AF 分析的价值。澳大利亚基因组学计划和墨尔本基因组学计划共招募了 94 名家长参与调查，他们共提供了 1128 种选择方案。经统计发现，在以下方面有明显的偏好：有机会改变对房颤做出的选择；亲自从遗传咨询师那里获得积极的房颤信息；及时获得医学专家和高质量的在线资源；在有新信息时通过安全的在线门户网站获得自动更新；以及较低的成本。对于 50-95% 的心房颤动接受率，心房颤动分析的人均价值估计为 450-1 700 澳元（300-1140 美元）。这些研究结果有助于在罕见病基因组测序中设计一种价值最大化的房颤分析流程。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

NPJ Genomic Medicine Biochemistry, Genetics and Molecular Biology-Molecular Biology

CiteScore

9.40

自引率

1.90%

发文量

审稿时长

17 weeks

期刊介绍： npj Genomic Medicine is an international, peer-reviewed journal dedicated to publishing the most important scientific advances in all aspects of genomics and its application in the practice of medicine. The journal defines genomic medicine as "diagnosis, prognosis, prevention and/or treatment of disease and disorders of the mind and body, using approaches informed or enabled by knowledge of the genome and the molecules it encodes." Relevant and high-impact papers that encompass studies of individuals, families, or populations are considered for publication. An emphasis will include coupling detailed phenotype and genome sequencing information, both enabled by new technologies and informatics, to delineate the underlying aetiology of disease. Clinical recommendations and/or guidelines of how that data should be used in the clinical management of those patients in the study, and others, are also encouraged.