Uhlmann Wendy R, Roberts J Scott
Departments of Internal Medicine and Human Genetics, University of Michigan Medical School, Ann Arbor, MI, United States; Center for Bioethics and Social Sciences in Medicine, University of Michigan Medical School, Ann Arbor, MI, United States.
Department of Health Behavior and Health Education, University of Michigan School of Public Health, Ann Arbor, MI, United States; Center for Bioethics and Social Sciences in Medicine, University of Michigan Medical School, Ann Arbor, MI, United States.
Handb Clin Neurol. 2018;147:23-36. doi: 10.1016/B978-0-444-63233-3.00003-8.
Many neurogenetic conditions are inherited and therefore diagnosis of a patient will have implications for the patient's relatives and can raise ethical issues. Predictive genetic testing offers asymptomatic relatives the opportunity to determine their risk status for a neurogenetic condition, and professional guidelines emphasize patients' autonomy and informed, voluntary decision making. Beneficence and nonmaleficence both need to be considered when making decisions about disclosure and nondisclosure of genetic information and test results. There can be disclosure concerns and challenges in determining whose autonomy to prioritize when a patient makes a genetic testing decision that can reveal the genetic status of a relative (e.g., testing an adult child when the at-risk parent has not been tested). Ethical issues are prominent when genetic testing for neurogenetic conditions is requested prenatally, on minors, adoptees, adult children at 25% risk, and for individuals with psychiatric issues or cognitive impairment. Neurogenetic conditions can result in cognitive decline which can affect decisional capacity and lead to ethical challenges with decision making, informed consent, and determining the patient's ability to comprehend test results. The ethical implications of genetic testing and emerging issues, including direct-to-consumer genetic testing, disclosure of secondary findings from genomic sequencing, and use of apolipoprotein E testing in clinical and research settings, are also discussed. Resources for information about genetic testing practice guidelines, insurance laws, and directories of genetics clinics are included.
许多神经遗传性疾病是遗传性的,因此对患者的诊断会对其亲属产生影响,并可能引发伦理问题。预测性基因检测为无症状的亲属提供了确定其患神经遗传性疾病风险状况的机会,专业指南强调患者的自主权以及知情、自愿的决策。在决定是否披露基因信息和检测结果时,需要同时考虑行善原则和不伤害原则。当患者做出的基因检测决定可能揭示亲属的基因状况时(例如,在未对有风险的父母进行检测的情况下检测成年子女),在确定优先考虑谁的自主权方面可能存在披露方面的担忧和挑战。当对胎儿、未成年人、被收养者、有25%风险的成年子女以及有精神问题或认知障碍的个体进行神经遗传性疾病的基因检测时,伦理问题尤为突出。神经遗传性疾病可导致认知能力下降,这可能影响决策能力,并在决策、知情同意以及确定患者理解检测结果的能力方面引发伦理挑战。本文还讨论了基因检测的伦理影响以及新出现的问题,包括直接面向消费者的基因检测、基因组测序二级结果的披露以及载脂蛋白E检测在临床和研究环境中的应用。文中还提供了有关基因检测实践指南、保险法以及基因诊所名录的信息资源。