Clarke Angus J, Wallgren-Pettersson Carina
Institute of Medical Genetics, Division of Cancer & Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, Wales, CF14 4XN, UK.
The Folkhaelsan Department of Medical Genetics, Topeliusgatan, 20 00250, Helsinki, Finland.
J Community Genet. 2019 Jan;10(1):3-33. doi: 10.1007/s12687-018-0371-7. Epub 2018 Jun 14.
Difficult ethical issues arise for patients and professionals in medical genetics, and often relate to the patient's family or their social context. Tackling these issues requires sensitivity to nuances of communication and a commitment to clarity and consistency. It also benefits from an awareness of different approaches to ethical theory. Many of the ethical problems encountered in genetics relate to tensions between the wishes or interests of different people, sometimes even people who do not (yet) exist or exist as embryos, either in an established pregnancy or in vitro. Concern for the long-term welfare of a child or young person, or possible future children, or for other members of the family, may lead to tensions felt by the patient (client) in genetic counselling. Differences in perspective may also arise between the patient and professional when the latter recommends disclosure of information to relatives and the patient finds that too difficult, or when the professional considers the genetic testing of a child, sought by parents, to be inappropriate. The expectations of a patient's community may also lead to the differences in perspective between patient and counsellor. Recent developments of genetic technology permit genome-wide investigations. These have generated additional and more complex data that amplify and exacerbate some pre-existing ethical problems, including those presented by incidental (additional sought and secondary) findings and the recognition of variants currently of uncertain significance, so that reports of genomic investigations may often be provisional rather than definitive. Experience is being gained with these problems but substantial challenges are likely to persist in the long term.
医学遗传学领域的患者和专业人员会面临棘手的伦理问题,这些问题往往与患者的家庭或其社会背景相关。解决这些问题需要敏锐感知沟通中的细微差别,并致力于表达清晰和保持一致。了解不同的伦理理论方法也会有所助益。遗传学中遇到的许多伦理问题都涉及不同人群的愿望或利益之间的冲突,有时甚至是尚未出生或仅以胚胎形式存在的人之间的冲突,无论是在已确定的妊娠中还是在体外。对儿童、年轻人或未来可能出生的孩子,或对家庭其他成员长期福祉的担忧,可能会导致患者(客户)在遗传咨询中感到矛盾。当专业人员建议向亲属披露信息而患者觉得太难做到,或者当专业人员认为父母要求对孩子进行基因检测不合适时,患者和专业人员之间也可能会出现观点差异。患者所在社区的期望也可能导致患者与咨询师之间观点的不同。基因技术的最新发展使得全基因组研究成为可能。这些研究产生了更多、更复杂的数据,放大并加剧了一些原有的伦理问题,包括偶然(额外发现和次要发现)发现以及对目前意义不确定的变异的识别所带来的问题,因此基因组研究报告往往可能是临时的而非确定的。人们正在积累应对这些问题的经验,但从长远来看,重大挑战可能仍将存在。