Ethical aspects of genetic information about hereditary cancer syndromes

[摘要] ENGLISH ABSTRACT: The practice of medicine is constantly changing as technology enables us to redefine our understanding of the pathophysiological basis of disease. These new medical techniques and technologies often raise new moral and ethical dilemmas, forcing us to constantly reflect on our practice of bioethics, and to keep it relevant if we do not want to create a bioethical void.Neoplastic diseases, like colon and breast cancer, are sometimes associated with genetic abnormalities, some of which are inherited. A number of hereditary cancer syndromes have been identified, including Lynch syndrome.Two issues, related to scientific developments in the fields of histopathology and molecular pathology, and both of which are of importance to the histopathologist and the clinician/genetic counsellor, are discussed in this thesis.The first issue relates to the apparent merging of the concepts of the genotype and phenotype, and the consequences of such a unified concept. I believe that the staggered approach to obtain consent for the examination of a histopathology specimen, is outdated in view of the availability of a whole range of modern techniques and technologies, which allow us to analyse any point along the genotype – phenotype spectrum. Some investigations straddle the concepts of genotype and phenotype, and it is not always clear whether these investigations may be performed without the specific consent of the patient. If we accept a merged concept of the genotype and phenotype, I believe best clinical and ethical practice would be to obtain specific informed consent for the histopathology examination of the specimen in advance. This consent must be comprehensive and inclusive of all investigations, including genetic testing for both somatic and germline mutations.My second argument is based on the ownership of genetic information related to hereditary cancer syndromes. It does sometimes happen for various reasons, including the fear of stigmatisation or discrimination, that the index patient refuses to disseminate this information to his family. The ethical dilemma then arises whether the healthcare worker can divulge this information without the necessary consent and against the index patient's express wishes. This dilemma hinges mainly on two ethical issues, i.e. confidentiality and privacy.An analysis of the professional guidelines as well as current legislation and case law, is supportive of my opinion that the right to confidentiality and privacy is not absolute, and that this information may be divulged to at-risk family members.The ethical and moral implications are analysed from the perspective of the three main ethical and moral theories – virtue ethics (especially the virtue of phronesis as basis of an ethics of responsibility), utilitarianism and deontology – as well as the principles of biomedical ethics as formulated by Beauchamp and Childress.I believe that there is professional, legal and also moral justification to divulge important and potential life-saving information regarding the possibility of a hereditary cancer syndrome to at-risk family members. In fact, there is a duty to do so.

[发布机构] Stellenbosch University