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首页> 外文期刊>BMC Medical Genomics >Disclosure of clinically actionable genetic variants to thoracic aortic dissection biobank participants
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Disclosure of clinically actionable genetic variants to thoracic aortic dissection biobank participants

机译：透露临床可行的遗传变异胸主动脉解剖Biobank参与者

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Disclosure of pathogenic variants to thoracic aortic dissection biobank participants was implemented. The impact and costs, including confirmatory genetic testing in a Clinical Laboratory Improvement Amendments (CLIA)-certified laboratory, were evaluated. We exome sequenced 240 cases with thoracic aortic dissection and 258 controls, then examined 11 aortopathy genes. Pathogenic variants in 6 aortopathy genes (COL3A1, FBN1, LOX, PRKG1, SMAD3, and TGFBR2) were identified in 26 participants, representing 10.8% of the cohort (26/240). A second research sample was used to validate the initial findings. Mailed letters to participants disclosed that a potentially disease causing DNA alteration had been identified (neither the gene nor variant was disclosed). Participants were offered clinical genetic counseling and confirmatory genetic testing in a CLIA laboratory. Excluding 6 participants who were deceased or lost to follow-up, 20 participants received the disclosure?letter, 10 of whom proceeded with genetic counseling, confirmatory genetic testing, and enrolled in a survey study. Participants reported satisfaction with the letter (4.2?±?0.7) and genetic counseling (4.4?±?0.4; [out of 5, respectively]). The psychosocial impact was characterized by low decisional regret (11.5?±?11.6) and distress (16.0?±?4.2, [out of 100, respectively]). The average cost for 26 participants was $400, including validation and sending letters. The average cost for those who received genetic counseling and CLIA laboratory confirmation was $605. Participants were satisfied with the return of clinically significant biobank genetic results and CLIA laboratory testing; however, the process required significant time and resources. These findings illustrate the trade-offs involved for researchers considering returning research genetic results.
机译：实施了向胸主动脉解剖Biobank参与者的致病变体的公开内容。评估了临床实验室改善修正案（CLIA） - 合理的实验室中的影响和成本，包括确认遗传学检测。 exome测序240例，胸部主动脉夹层和258例对照，然后检查了11个主动死基因。在26名参与者中鉴定了6个主病变基因（COL3A1，FBN1，LOX，PRKG1，SMAD3和TGFBR2）中的致病变体，其占队列的10.8％（26/240）。使用第二个研究样本来验证初始结果。向参与者寄给参与者的邮件透露，已经确定了导致DNA改变的潜在疾病（既不公开基因也没有变异）。参与者在CLIA实验室提供临床遗传咨询和验证基因检测。不包括6名已故或失去随访的参与者，20名与会者收到了本披露？信件，其中10个，其​​中10个遗传咨询，确认遗传检测，并在调查研究中注册。与会者报告的信件（4.2？±0.7）和遗传咨询（4.4？±0.4; [分别为5分别]）。心理社会影响的特点是低果实遗憾（11.5？±11.6）和窘迫（16.0？±4.2，分别为100分别]）。 26名参与者的平均成本为400美元，包括验证和发送信件。那些接受遗传咨询和克利亚实验室确认的人的平均成本为605美元。参与者对临床显着的生物安遗传结果和CLIA实验室检测的回报感到满意;但是，该过程需要大量的时间和资源。这些调查结果说明了考虑回归研究遗传结果的研究人员所涉及的权衡。

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