Risk assessment, risk explanation and family decision-making about genetic testing for SADS : a discourse analytic study

Abstract

In the context of genetic counselling, facilitating the client’s autonomous decision-making has been identified as one of the important goals of the activity. However, due to the limitations of current diagnostic technology, decision-making is fraught with uncertainty as definite information may not be available even after a diagnostic test is undertaken at the individual level. This thesis reports on a study which aims at investigating how healthcare professionals draw on risk assessment and risk explanation to facilitate family decision-making about genetic testing. Specifically, in drawing an analytical distinction between risk assessment and risk explanation, the study examines, firstly, how certainty and uncertainty are formulated in risk assessment; and secondly, how risk explanation is utilised to support the provision of risk assessment. Using the analytic framework activity analysis as proposed by Sarangi (2000, 2010b), the study focuses on fourteen video- and audio-recorded follow-up consultations offered for children diagnosed with Sudden Arrhythmia Death Syndromes (SADS) and their families in Hong Kong. The follow-up consultations are situated between two kinds of genetic testing: diagnostic testing and cascade testing. The children have undergone the diagnostic testing prior to the follow-up consultations, and their families are offered cascade testing in the follow-up consultations. Therefore, these follow-up consultations are post-diagnostic test consultations, while at the same time serving as pre-test consultations for the cascade testing. Findings of the present study showed that the degrees of certainty and uncertainty are signalled through the use of epistemic markers in risk assessment. In addition, the healthcare professionals draw on explicit formulations of claiming insufficient knowledge to formulate uncertainty. Through configuring the degree of certainty and uncertainty in different types of risk assessment, the healthcare professional can more accurately present the implications of the diagnosis of the tested child for the family, facilitate the family’s understanding of the causes and consequences of the SADS condition, and evaluate the effectiveness and the efficacy of available risk management options. In addition, risk assessment is routinely accompanied by risk explanation. The use of evidentiality markers in risk explanation transforms information into supportive evidence for claims made in risk assessment. Through invoking supportive evidence, the healthcare professionals enhance the authenticity of the risk assessment provided, and justify their stance on the uncertainty which arises from the risk assessment. The findings of the study also suggest that risk assessment and risk explanation have important functions in family’s decision-making about genetic testing. They allow the healthcare professionals to establish the at-risk status of the family members, and to educate the family about the benefits and drawbacks surrounding the decision about undergoing the cascade testing. These communicative functions of risk assessment and risk explanation are important, as they foreground what is already known and what is uncertain, which needs further clarification through the generation of information from the cascade testing, and equip the families with necessary information for autonomous decision-making. Therefore, risk assessment and risk explanation are preconditions of family decision-making about cascade testing – a stepping-stone for the family to move forward in the midst of uncertainty.