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