Graf Madeline, Char Danton, Hanson-Kahn Andrea, Magnus David
Department of Genetics, Stanford University School of Medicine, Stanford University, Stanford, California.
Department of Anesthesiology, Perioperative and Pain Management, Stanford University School of Medicine, Stanford University, Stanford, California.
Pediatr Transplant. 2019 Jun;23(4):e13402. doi: 10.1111/petr.13402. Epub 2019 Apr 23.
There is a limited supply of organs for all those who need them for survival. Thus, careful decisions must be made about who is listed for transplant. Studies show that manifesting genetic disease can impact listing eligibility. What has not yet been studied is the impact genetic risks for future disease have on a patient's chance to be listed. Surveys were emailed to 163 pediatric liver, heart, and kidney transplant programs across the United States to elicit views and experiences of key clinicians regarding each program's use of genetic risks (ie, predispositions, positive predictive testing) in listing decisions. Response rate was 42%. Sixty-four percent of programs have required genetic testing for specific indications prior to listing decisions. Sixteen percent have required it without specific indications, suggesting that genetic testing may be used to screen candidates. Six percent have chosen not to list patients with secondary findings or family histories of genetic conditions. In hypothetical scenarios, programs consider cancer predispositions and adult-onset neurological conditions to be relative contraindications to listing (61%, 17%, and 8% depending on scenario), and some consider them absolute contraindications (5% and 3% depending on scenario). Only 3% of programs have formal policies for these scenarios, but all consult genetic specialists at least "sometimes" for results interpretation. Our study reveals that pediatric transplant programs are using future onset genetic risks in listing decisions. As genetic testing is increasingly adopted into pediatric medicine, further study is needed to prevent possible inappropriate use of genetic information from impacting listing eligibility.
可供所有需要器官维持生命的人使用的器官供应有限。因此,必须谨慎决定哪些人可以列入移植名单。研究表明,患有显性遗传病会影响列入名单的资格。然而,尚未研究的是未来疾病的遗传风险对患者列入名单机会的影响。我们通过电子邮件向美国163个儿科肝脏、心脏和肾脏移植项目发送了调查问卷,以了解关键临床医生对每个项目在列入名单决策中使用遗传风险(即易感性、阳性预测检测)的看法和经验。回复率为42%。64%的项目在列入名单决策前要求针对特定指征进行基因检测。16%的项目在没有特定指征的情况下要求进行基因检测,这表明基因检测可能被用于筛选候选人。6%的项目选择不将有次要发现或遗传疾病家族史的患者列入名单。在假设情景中,各项目认为癌症易感性和成人期神经疾病是列入名单的相对禁忌症(根据情景不同,分别为61%、17%和8%),有些项目认为它们是绝对禁忌症(根据情景不同,分别为5%和3%)。只有3%的项目针对这些情景制定了正式政策,但所有项目至少“有时”会咨询遗传专家以解读检测结果。我们的研究表明,儿科移植项目在列入名单决策中使用了未来发病的遗传风险。随着基因检测在儿科医学中的应用越来越广泛,需要进一步研究以防止遗传信息的不当使用可能影响列入名单的资格。