Paediatrics (RCH) - Theses
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ItemA prospective study of the psychological impact, understanding and disclosure of gene test results for hypertrophic cardiomyopathy and long QT syndrome.( 2010)Hypertrophic cardiomyopathy (HCM) and Long QT syndrome (LQTS) are inherited cardiovascular conditions for which genetic testing has become more common in clinical practice. The most concerning feature of these conditions is sudden death which can be prevented if those at risk are identified. Research into the clinical and molecular aspects of these conditions has advanced rapidly but research on the psychosocial implications of genetic testing for these conditions has lagged behind. The present study aimed to add to the limited body of research about the impact of genetic testing for HCM and LQTS to guide genetic health professionals working with families who are considering genetic testing. A multi-centre prospective questionnaire-based study was conducted to examine the impact of diagnostic and predictive testing for HCM and LQTS. Understanding of test results, risk perception, motivations for and concerns about testing and psychological impact of result disclosure were examined as well as disclosure of gene test result to relatives. Participants were recruited from four Australian and one British site. Questionnaires were completed before testing and at two weeks and three months post-disclosure. Data from participants who underwent diagnostic testing (n=46, 15-76 years old, 40 (80%) tested positive) were analysed separately to those who had predictive testing (n=77, 14-67 years old, 29 (38%) tested positive). A high proportion of participants from both the diagnostic and predictive gene testing groups were pleased they had testing, recalled their result accurately and in the diagnostic group, understood the implications of their result for their own health and their relatives. In those who had predictive testing, perceptions of the likelihood of developing disease, level of worry, and the number of concerns about LQTS and HCM reported were consistent with gene test result. More than 90% of participants in both groups disclosed their gene test results to first‐degree relatives. Concerns about sudden death were evident in participants from both the diagnostic and predictive group, confirming anecdotal reports from clinical practice. Concerns about the possibility of at-risk relatives inheriting either LQTS or HCM and the unpredictable natural history of both conditions were also common concerns. For the predictive testing group, multivariable linear regression analysis adjusting for baseline psychological scores and potential confounders, and accounting for family clusters demonstrated a higher mean anxiety (p=0.005) and distress (p=0.003) score in gene positive compared to gene negative participants at 2 weeks, but these differences were less apparent at 3 months. There was no difference in depression scores at any time point in those who underwent predictive testing. The same analysis was performed in the diagnostic testing group and there were no statistically significant differences in adjusted mean anxiety, distress and depression scores when comparing participants with gene positive and gene negative results at any time point. Overall, high proportions of participants who underwent diagnostic and predictive testing were pleased to have undergone testing, understood the implications of their result and disclosed their result to relatives. There was no evidence for significant negative psychological sequelae three months after receipt of test result in participants who had either diagnostic or predictive testing. Implications for practice are presented.
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ItemExploring the experiences of people who have consented to tumour testing for a hereditary disposition to cancer( 2009)Due to the costly and technically challenging nature of genetic testing, methods have been developed to target more specifically those who are at increased risk of carrying the Hereditary Non-Polyposis Colorectal Cancer (HNPCC) mutation. HNPCC is an inherited colorectal cancer syndrome. Testing of tumour material (which has previously been removed during surgery) for features of HNPCC has been found to be an effective and economic method of identifying those at higher risk of having a mutation. Only those at higher risk of having a mutation will undergo genetic testing. This practice of “tumour testing” has become widespread. There is currently no clarity about requirements for consent prior to testing of stored tumour tissue. The person giving consent to tumour testing does not always have an appointment with a genetics service prior to giving consent. This can be contrasted to genetic testing on blood samples where laws and guidelines state that informed consent is required prior to genetic testing and that comprehensive genetic counselling and support should be provided as part of this process. Protocols for genetic testing have been developed as a result of extensive research around the impact and implications of genetic testing. Consumer opinion and participation through research is an important aspect of health policy and guideline development. Accordingly the purpose of this study was to contribute to such development by gaining insight into the experiences, understandings, decision making processes and opinions of those who had given consent to have their own or their relatives tumour tested. Seventeen people who had given consent for tumour testing either for themselves, or on behalf of a deceased relative were recruited through a Familial Cancer Centre and in-depth interviews conducted. The interviews were transcribed and analysed using thematic analysis. Some participants had no memory of consenting to tumour testing. Others remembered basic concepts. Negative implications of testing were unknown or viewed as unimportant. Participants did not understand the difference between tumour testing and germline testing. Despite lack of memory or understanding participants did not want additional or more detailed pre-test information although they did want more follow-up and support after receipt of results. The decision to consent to testing was made as soon as participants were informed of the availability of tumour testing - the major reason being to provide information for the family that would aid in cancer prevention. Participants were more concerned with accessibility to testing than pre test information and counselling. Findings in this study indicated participants made decisions heuristically rather than systematically and this as well as participants’ opinions and other decision-making research has implications for the traditional view of informed consent around genetic related decisions. This in turn has implications for policy and guidelines in the area. Implications for current practise as a result of findings from this study include ensuring participants understand negative implications of testing and follow up and support of those with negative as well as positive results to tumour testing.