Division of Cardiology, Labatt Family Heart Centre, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, ON, M5G 1X8, Canada.
Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.
BMC Med Genomics. 2019 Nov 27;12(1):173. doi: 10.1186/s12920-019-0618-0.
Assess process, uptake, validity and resource needs for return of actionable research findings to biobank participants.
Participants were prospectively enrolled in a multicenter biorepository of childhood onset heart disease. Clinically actionable research findings were reviewed by a Return of Research Results Committee (RRR) and returned to the physician or disclosed directly to the participant through a research genetic counselor. Action taken following receipt of this information was reviewed.
Genetic data was generated in 1963 of 7408 participants. Fifty-nine new findings were presented to the RRR committee; 20 (34%) were deemed reportable. Twelve were returned to the physician, of which 7 were disclosed to participants (median time to disclosure, 192 days). Seven findings were returned to the research genetic counselor; all have been disclosed (median time to disclosure, 19 days). Twelve families (86%) opted for referral to clinical genetics after disclosure of findings; 7 results have been validated, 5 results are pending. Average cost of return and disclosure per reportable finding incurred by the research program was $750 when utilizing a research genetic counselor; clinical costs associated with return were not included.
Return of actionable research findings was faster if disclosed directly to the participant by a research genetic counselor. There was a high acceptability amongst participants for receiving the findings, for referral to clinical genetics, and for clinical validation of research findings, with all referred cases being clinically confirmed.
评估将可操作性研究结果返还给生物库参与者的过程、接受程度、有效性和资源需求。
前瞻性地招募了患有儿童起病心脏病的多中心生物库参与者。临床可操作性研究结果由研究结果回报委员会（RRR）进行审查，并通过研究遗传咨询师返还给医生或直接向参与者披露。审查了收到这些信息后采取的行动。
对 7408 名参与者中的 1963 人进行了遗传数据生成。向 RRR 委员会提交了 59 项新发现，其中 20 项（34%）被认为具有报告价值。有 12 项被返还给医生，其中 7 项被披露给参与者（披露的中位数时间为 192 天）。有 7 项被返还给研究遗传咨询师，均已披露（披露中位数时间为 19 天）。在披露发现结果后，12 个家庭（86%）选择转介到临床遗传学；有 7 项结果已得到验证，5 项结果仍在等待中。利用研究遗传咨询师时，研究项目每报告一个可报告的发现，返还和披露的平均费用为 750 美元；不包括与返还相关的临床费用。
如果研究遗传咨询师直接向参与者披露可操作性研究结果，返还速度会更快。参与者对收到结果、转介到临床遗传学以及对研究结果的临床验证的接受程度很高，所有转介病例均得到临床证实。
