Ethical aspects of genetic information about hereditary cancer syndromes

Loftus, Izak Adriaan Johannes (2015-12)

Thesis (MPhil)--Stellenbosch University, 2015.

Thesis

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 I believe that the staggered approach to obtain consent for the examination of a histopathology specimen, is outdated in view of the availability of a whole range of modern techniques and technologies, which allow us to analyse any point along the genotype – phenotype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.

AFRIKAANSE OPSOMMING: Die praktisering van geneeskunde verander gedurig soos tegnologiese vooruitgang ons begrip aangaande die patofisiologiese basis van siektes herdefinieer. Hierdie nuwe mediese tegnieke en tegnologie skep dikwels nuwe morele en etiese dilemmas. Dit forseer ons om gedurig te reflekteer oor ons praktisering van bio-etiek, dit relevant te hou, en so te verhoed dat ‘n morele leemte ontstaan. Neoplastiese siektes, soos kolon- en borskanker, is soms assosieerd met genetiese abnormaliteite, waarvan sommige daarvan oorerflik is. ‘n Aantal oorerflike kanker sindrome is reeds identifiseerd, insluitende Lynch sindroom. Twee aangeleenthede wat spruit uit die wetenskaplike vooruitgang in die mediese dissiplines van histopatologie en molekulêre patologie, en wat beide van belang is vir die histopatoloog en die klinikus/genetiese raadgewer, word in hierdie tesis bespreek. Die eerste kwessie spruit uit die skynbare samesmelting of eenwording van die konsepte van die genotipe en fenotipe, en die gevolge van sodanige verenigde konsep. Ek glo dat die stapsgewyse benadering om toestemming te verkry vir histopatologie ondersoeke oudmodies is, in die lig van die beskikbaarheid van ‘n hele reeks moderne tegnieke en tegnologie, wat ons in staat stel om enige punt op die genotipe-fenotipe spektrum te kan analiseer. Sommige ondersoeke oorbrug die konsepte van genotipe en fenotipe en dit is nie altyd duidelik of die ondersoek uitgevoer mag word sonder die spesifieke toestemming van die pasiënt nie. Ek glo dat as ons ‘n verenigde konsep van die genotipe en fenotipe aanvaar, dit dan die beste kliniese en etiese praktyk sal wees om spesifieke ingeligte toestemming vir die histopatologiese ondersoek vooraf te verkry. Hierdie toestemming moet omvattend wees en al die ondersoeke insluit, insluitende moontlike genetiese toetse vir sowel somatiese en kiemlyn mutasies. My tweede argument is baseer op die eienaarskap van genetiese inligting wat verband hou met oorerflike kanker sindrome. Soms gebeur dit dat die indeks pasiënt weens verskeie redes, soos die vrees van stigmatisering en diskriminasie, weier om hierdie inligting deur te gee aan die familie. Die etiese dilemma ontstaan dan of die gesondheidswerker by magte is om hierdie inligting te openbaar sonder die nodige toestemming en teen die uitdruklike wense van die indeks pasiënt. Hierdie dilemma berus grotendeels op twee etiese aspekte, naamlik vertroulikheid en privaatheid. ‘n Ontleding van die professionele riglyne asook huidige wetgewing en hofuitsprake ondersteun my mening dat die reg tot vertroulikheid en privaatheid nie absoluut is, en dat hierdie inligting openbaar mag word aan die familielede blootgestel aan die risiko. Die etiese en morele implikasies word benader vanuit die perspektief van drie belangrike etiese en morele teorieë – die etiek gebaseer op deugde (veral phronesis as deug en as basis van ‘n etiek van verantwoordbaarheid), utilitarianisme en deontologie - asook die beginsels van biomediese etiek soos formuleer deur Beauchamp en Childress. Ek glo dat daar professionele, wetlike en ook morele regverdiging bestaan om belangrike en potensieel lewensreddende inligting aan familielede met ‘n risiko vir ‘n oorerflike kanker sindroom, oor te dra. Daar is inderwaarheid ‘n plig om dit te doen.

Please refer to this item in SUNScholar by using the following persistent URL: http://hdl.handle.net/10019.1/98058
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