Merrill Shana L, Vaidya Anjali, Pyeritz Reed E
Department of Medicine, Division of Translational Medicine and Human Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA 19104, USA.
World J Pediatr Congenit Heart Surg. 2013 Jan;4(1):58-61. doi: 10.1177/2150135112462590.
Genetic testing has been utilized to determine the etiology of some pediatric cardiac conditions for decades. However, new techniques, such as clinical whole exome sequencing, raise ethical challenges that must be addressed for the successful integration of these techniques into routine clinical care. One major ethical concern is the ability of patients to provide meaningful informed consent for this type of complex testing. A case of familial dilated cardiomyopathy with pediatric onset of unknown genetic etiology was utilized to facilitate the discussion of these issues by a panel including cardiologists, a geneticist, and a genetic counselor. Cardiologists and their medical genetics colleagues need to continue to discuss and investigate how to ethically integrate rapidly advancing genetic testing technologies into patient care to optimize potential benefits and minimize potential harms.
几十年来，基因检测一直被用于确定某些儿科心脏疾病的病因。然而，诸如临床全外显子组测序等新技术带来了伦理挑战，要想将这些技术成功整合到常规临床护理中，就必须应对这些挑战。一个主要的伦理问题是患者能否为这类复杂检测提供有意义的知情同意。一个家族性扩张型心肌病病例，其儿科发病的遗传病因不明，一个由心脏病专家、遗传学家和遗传咨询师组成的小组利用该病例来推动对这些问题的讨论。心脏病专家及其医学遗传学同事需要继续讨论和研究如何在伦理上把快速发展的基因检测技术整合到患者护理中，以优化潜在益处并将潜在危害降至最低。
