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基因组数据的二次利用:检测点的患者决策和告知国际数据共享的观点。

Secondary use of genomic data: patients' decisions at point of testing and perspectives to inform international data sharing.

机构信息

Murdoch Children's Research Institute, The Royal Children's Hospital, 50 Flemington Road, Parkville, VIC, 3052, Australia.

Melbourne Genomics Health Alliance, Parkville, VIC, 3052, Australia.

出版信息

Eur J Hum Genet. 2024 Jun;32(6):717-724. doi: 10.1038/s41431-023-01531-5. Epub 2024 Mar 25.


DOI:10.1038/s41431-023-01531-5
PMID:38528053
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11153578/
Abstract

International sharing of genomic data files arising from clinical testing of patients is essential to further improve genomic medicine. Whilst the general public are reluctant to donate DNA for research, the choices patients actually make about sharing their clinical genomic data for future re-use (research or clinical) are unknown. We ascertained the data-sharing choices of 1515 patients having genomic testing for inherited conditions or cancer treatment from clinical consent forms. To understand the experiences and preferences of these patients, surveys were administered after test consent (RR 73%). Almost all patients (98%) consented to share their data. Survey respondents' decision recall was high (90%), but poorer if English was an additional language (p < 0.001). Parents deciding on behalf of children were over-represented amongst data-sharing decliners (p = 0.047) and decliners were more likely to believe that stored data could be easily reidentified (p < 0.001). A quarter of respondents did not know if reidentification would be easy and 44% of them were concerned about this possibility. Of those willing to share data overseas (60%), 23% indicated the recipient researcher's country would affect their decision. Most respondents (89%) desired some ongoing control over research use of their data. Four preliminary data-sharing profiles emerged; their further development could inform tailored patient resources. Our results highlight considerations for establishment of systems to make clinical genomic data files available for reanalysis locally and across borders. Patients' willingness to share their data - and value of the resulting research - should encourage clinical laboratories to consider sharing data systematically for secondary uses.

摘要

国际分享源于患者临床检测的基因组数据文件对于进一步改善基因组医学至关重要。虽然公众不愿意捐献 DNA 用于研究,但患者对于共享其临床基因组数据用于未来再利用(研究或临床)的实际选择尚不清楚。我们从临床同意书中确定了 1515 名接受遗传性疾病或癌症治疗基因组检测的患者的数据共享选择。为了了解这些患者的经验和偏好,在测试同意后进行了调查(RR 73%)。几乎所有患者(98%)都同意共享他们的数据。调查对象的决策回忆率很高(90%),但如果英语是另一种语言,回忆率会更差(p<0.001)。代表孩子做出决定的父母在数据共享拒绝者中所占比例过高(p=0.047),而且拒绝者更有可能认为存储的数据可以很容易地重新识别(p<0.001)。四分之一的受访者不知道重新识别是否容易,其中 44%的人对此表示担忧。愿意在海外共享数据的受访者中(60%),23%的人表示接受研究人员所在国家/地区会影响他们的决定。大多数受访者(89%)希望对其数据的研究用途有一定的持续控制权。出现了四个初步的数据共享档案;进一步开发这些档案可以为量身定制的患者资源提供信息。我们的研究结果突出了建立系统的考虑因素,以便在本地和跨境重新分析临床基因组数据文件。患者愿意共享其数据-以及由此产生的研究价值-应鼓励临床实验室考虑系统地共享数据以进行二次利用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/57de/11153578/08da45fcb016/41431_2023_1531_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/57de/11153578/08da45fcb016/41431_2023_1531_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/57de/11153578/08da45fcb016/41431_2023_1531_Fig1_HTML.jpg

相似文献

[1]
Secondary use of genomic data: patients' decisions at point of testing and perspectives to inform international data sharing.

Eur J Hum Genet. 2024-6

[2]
Global Public Perceptions of Genomic Data Sharing: What Shapes the Willingness to Donate DNA and Health Data?

Am J Hum Genet. 2020-9-17

[3]
Sharing longitudinal, non-biological birth cohort data: a cross-sectional analysis of parent consent preferences.

BMC Med Inform Decis Mak. 2018-11-12

[4]
Sharing genomic data from clinical testing with researchers: public survey of expectations of clinical genomic data management in Queensland, Australia.

BMC Med Ethics. 2020-11-19

[5]
Patients' Willingness to Provide Their Clinical Data for Research Purposes and Acceptance of Different Consent Models: Findings From a Representative Survey of Patients With Cancer.

J Med Internet Res. 2022-8-25

[6]
Patient Perspectives About Decisions to Share Medical Data and Biospecimens for Research.

JAMA Netw Open. 2019-8-2

[7]
Development of a consent resource for genomic data sharing in the clinical setting.

Genet Med. 2018-6-13

[8]
Pediatric data sharing in genomic research: attitudes and preferences of parents.

Pediatrics. 2014-3-10

[9]
Fair Shares and Sharing Fairly: A Survey of Public Views on Open Science, Informed Consent and Participatory Research in Biobanking.

PLoS One. 2015-7-8

[10]
The difficulties of broad data sharing in genomic medicine: Empirical evidence from diverse participants in prenatal and pediatric clinical genomics research.

Genet Med. 2022-2

引用本文的文献

[1]
A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.

J Transl Med. 2025-1-20

[2]
Proxy panels enable privacy-aware outsourcing of genotype imputation.

Genome Res. 2025-2-14

[3]
A call to action to scale up research and clinical genomic data sharing.

Nat Rev Genet. 2025-2

本文引用的文献

[1]
The difficulties of broad data sharing in genomic medicine: Empirical evidence from diverse participants in prenatal and pediatric clinical genomics research.

Genet Med. 2022-2

[2]
Understanding genomic health information: how to meet the needs of the culturally and linguistically diverse community-a mixed methods study.

J Community Genet. 2021-10

[3]
Enhancing equitable access to cancer information for culturally and linguistically diverse (CALD) communities to complement beliefs about cancer prognosis and treatment.

Support Care Cancer. 2021-10

[4]
Availability and funding of clinical genomic sequencing globally.

BMJ Glob Health. 2021-2

[5]
Regulation of healthcare and medical imaging in Australia: A narrative review of the evolution, function and impact on professional behaviours.

Radiography (Lond). 2021-8

[6]
Sharing genomic data from clinical testing with researchers: public survey of expectations of clinical genomic data management in Queensland, Australia.

BMC Med Ethics. 2020-11-19

[7]
Global Public Perceptions of Genomic Data Sharing: What Shapes the Willingness to Donate DNA and Health Data?

Am J Hum Genet. 2020-9-17

[8]
A deliberative study of public attitudes towards sharing genomic data within NHS genomic medicine services in England.

Public Underst Sci. 2020-10

[9]
Mainstreaming genetics and genomics: a systematic review of the barriers and facilitators for nurses and physicians in secondary and tertiary care.

Genet Med. 2020-7

[10]
Effectiveness of the Genomics ADvISER decision aid for the selection of secondary findings from genomic sequencing: a randomized clinical trial.

Genet Med. 2020-4

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