Clinical uncertainty and familial interactions in the inherited cardiac conditions clinic in Hong Kong: reconsidering individualised notions of autonomy

Abstract

The last twenty years have seen a number of empirical sociological and linguistic studies examining the process of genetic counselling (for both diagnostic and predictive testing), mostly in Western contexts (Pilnick 2002; Sarangi 2016), but also more recently in non-western (Pilnick and Zayts 2014). Now, the changing technological environment (gene panel tests – look at several genes rather than one – and genome wide testing) has cast increasing levels of uncertainty regarding diagnostic testing results and established a need to genetically test other family members to substantiate a meaningful diagnostic genetic result. This development increasingly challenges Western ideologies of an individualistic model of informed consent to genetic testing, adding strength to the long-recognised notion that genetics is a ‘family affair’ (Hallowell 1999, 2009) We present discourse data from an inherited cardiac conditions clinic in Hong Kong, where several family members are co-present. Drawing on Goffman’s participation framework (1981) we examine the process of giving and receiving clinically uncertain results from a gene panel test and negotiating ongoing testing within the family. We explore how this more complex test blurs the boundaries between diagnostic and ongoing genetic testing within one family and leads the researcher to re-consider the question ‘who is the patient?’, the individual undergoing the testing or the family. We consider the implications of our results for Hong Kong, where genetic counselling is being established and where Western and Eastern cultures meet (Zayts et al 2012) and beyond, in challenging individualised notions of autonomous decision-making and informed consent.