Paediatrics (RCH) - Theses
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ItemRapid acute care genomics: Challenges and opportunities( 2021)Genomic technologies are showing great promise in the neonatal and paediatric acute care setting, with rapid genomic sequencing (rGS) facilitating results delivery within days. The use of rGS presents both novel genetic counselling issues and a unique impact on families. Although there is substantial enthusiasm surrounding this new application of genomics, it is important that implementation remains evidence-based and patient-centred. This research therefore aimed to understand current practice and perspectives in this setting as technology progresses. Qualitative, semi-structured interviews were conducted with 30 parents whose children had rGS in acute care, and 16 genetic counsellors (GCs) and four intensivists working in this setting. Interviews were audio-recorded, transcribed and analysed using a combination of content and thematic analysis. GCs identified practical challenges of counselling within a rapid turnaround time, including the lack of preparation time, less time to see families, and challenges of practicing outside of the traditional ‘9 to 5’ workday of genetic health professionals. However, they also saw similarities with genetic counselling in other contexts (such as the prenatal setting and the introduction of previous technologies). GCs also described the challenges of multidisciplinary teamwork in this setting, highlighting a need for education and training of other acute care health professionals and the role GCs may play in this. While some parents had a range of concerns and described deliberating about their decision, others readily consented to rGS and were resistant to pre-test counselling. Participants felt they were lucky to be offered special access to exciting, expensive and cutting-edge research, and valued the rapidity of the test, irrespective of the diagnostic outcome. However, factors putting pressure on parents to consent were evident in their descriptions of decision making for rGS. Interviews with intensivists and follow-up interviews with GCs who had greater experience in the delivery of rGS revealed the evolution of multidisciplinary practice in acute care. While there were initial challenges, both disciplines appeared to be benefiting from interdisciplinary learning, facilitating the movement towards truly integrated practice. Intensivists and GCs were working together to support parents’ informed decision making about rGS. Irrespective of the outcome of rGS, participants reported that families need post-test support for a variety of reasons. This study demonstrated maturation in the delivery of rGS over recent years and provided insight into the future delivery of genomic medicine in acute care. Practices reported around decision making are still putting pressure on parents to consent to rGS. Finally, a wider range of post-test needs were reported by health professionals compared to families undergoing rGS, making all perspectives essential for informing service delivery. While interviews revealed unique considerations for the delivery of rGS in acute care, there are existing areas of practice, theories and skills that can be drawn on to inform practice in this setting. The use of genomic technologies will continue to increase over time, therefore patient-centred care for families undergoing rGS will require ongoing investigation into their experiences and the changes in practice.
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ItemThe implementation of new technologies in prenatal testing: implications for service delivery and genetic counselling( 2012)Background: For the last 35 years, women who wanted to have prenatal diagnosis had no choice but to have an invasive procedure with associated miscarriage risks. Most women who chose to have diagnosis did so because of an increased risk of a Down syndrome pregnancy. The test however, called a karyotype, involves searching for any type of chromosome abnormality, not just Down syndrome. New technologies such as chromosome microarray and non-invasive prenatal testing (NIPT), are being introduced that could change the focus of prenatal testing from increased risk of Down syndrome, to increased risks of outcomes for an even wider range of chromosomally abnormal conditions. Aims: 1. To determine the decisions women who had screening for Down syndrome in their current pregnancy would make, if offered safe diagnostic tests for chromosome abnormalities with different types of clinical outcomes. 2. To determine if the underlying beliefs used to make these decisions varied depending on the clinical outcome of the chromosome abnormality. Method: Questionnaires were administered to pregnant women who had a screening test for Down syndrome in their current pregnancy. The methodology and the analysis were based on the Theory of Planned Behaviour. Measurements included their intentions, attitudes, subjective norm (social pressure) and perceived behavioural control (ability to undertake the test) to having a prenatal diagnostic test for one of four conditions: Down syndrome, Klinefelter syndrome, triple X, or mosaic trisomy 20. Results: 381 women completed the main questionnaires. The percentage intending to test varied by condition: 98% for Down syndrome; 78.4% for Klinefelter syndrome; 74.1% for triple X; 87.6% for mosaic trisomy 20. Women’s overall attitude to the test and their perception of social pressure on their decisions, predicted an intention to test, regardless of the condition. There was a difference between the conditions, for the specific beliefs (e.g. having the test provided an opportunity to terminate an affected pregnancy) and specific people that predicted their intention to test. Conclusion: Not all women who have screening tests for Down syndrome want diagnostic testing for conditions with different types of outcome. They make decisions about testing based on different sets of beliefs which depend on the type of outcome. The introduction of new technologies provides the possibility of offering women a choice as to the type of conditions they want diagnosed and this may result in more informed decisions and less anxiety.
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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.