Paediatrics (RCH) - Theses
Permanent URI for this collection
Search Results
1 - 2 of 2
-
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.
-
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.