Paediatrics (RCH) - Theses
Permanent URI for this collection
Search Results
1 - 2 of 2
-
ItemThe decision that would give me the most peace of mind: exploring informed choice in non-pregnant women offered population genetic carrier screening for fragile X syndrome( 2014)Advances in genetic screening capabilities drive the need to evaluate the social and ethical implications of new screening programmes. One ethical aspect to evaluate is informed choice, as recommended in genetic screening guidelines. An informed choice can be facilitated by providing relevant, up-to-date information and offering screening in a way that allows individuals to make a free choice. Population carrier screening for fragile X syndrome (FXS), the most common cause of inherited intellectual disability, can provide personal and reproductive risk information to individuals. Female carriers of FXS are at risk of having children with FXS and may develop premature menopause. Screening before pregnancy allows women the choice of learning their carrier status, and to inform family planning. FXS population carrier screening provides a useful model for exploring informed choice because it has implications for both reproductive and personal health. Women may value the benefits and harms of FXS screening differently, therefore it is the individual’s choice to decide whether or not to have screening. This PhD research aimed to explore informed choice in a programme offering population carrier screening for FXS to non-pregnant women. Using a mixed methods approach to respond to the research aim, qualitative and quantitative datasets were used to explore informed choice from different perspectives. A systematic review of informed choice measures used in population-based reproductive genetic screening programmes identified the multidimensional measure of informed choice (MMIC) as one key validated measure. The MMIC requires a condition specific knowledge scale, and measures of attitudes and uptake (i.e., value-consistency) to evaluate informed choice. Deliberation and decisional conflict were also identified as measures important to the evaluation of informed choice. These measures were applied in the quantitative datasets of this PhD study, and explored further using qualitative and quantitative methods. The findings of this mixed methods PhD study indicate that for non-pregnant women offered FXS carrier screening, informed choice, and their decision-making processes are indeed complex. When measured quantitatively, the majority of women in the study appeared to make informed choices. There were various factors affecting and contributing to informed choice when measured with the MMIC. Informed choice was affected by perceived susceptibility, family experience, decisional conflict and how participants were approached to participate in the study. Stepping outside of the MMIC paradigm to draw on the in-depth qualitative interview findings, we see that women described a number of different ways of coming to a decision about FXS carrier screening. Yet, despite these diverse processes, the majority of women indicated that how a choice feels is an important outcome when making their choices. This feeling was described as the choice ‘feeling right’, or comfortable, or being ‘at peace’ with the choice. This finding adds another dimension to how informed choice is generally understood. Women’s perceptions of their choices, such as whether the choice ‘feels right’, could be incorporated into the evaluation of informed choice as this aspect is not included in the MMIC. Therefore, an informed decision-making approach using a combination of objective and subjective measures such as knowledge, decisional conflict and ‘feeling right’ are suggested to better evaluate informed choice in FXS carrier screening programmes in non-pregnancy settings. The key findings of this PhD research suggest that: - an important decision outcome for women when offered FXS carrier screening is whether the decision ‘feels right’ - informed choice is affected by an individual’s perceived susceptibility, family experience, decisional conflict and the way individuals were approached to participate in the study - the active approach of individuals to participate in the study has implications for how we approach potential participants in future research and how we offer individuals screening The recommendations arising from this work have implications for the design of screening programmes and decision interventions such as those performed by genetic counsellors. The revised model of evaluating informed choice can be used to evaluate the decision quality and outcome by incorporating an objective measure of knowledge and the individual’s perspective of their decision using measures of decisional conflict and whether the choice ‘felt right’
-
ItemExploration of antenatal β-thalassaemia carrier screening in Victoria, Australia( 2012)Currently there is no coordinated β-thalassaemia carrier screening program carried out in Australia. Unlike other genetic screening programs, this screening has been incorporated into routine healthcare practice. This is attributable to most women undergoing a full blood examination (FBE) at their initial prenatal visit, with a low mean corpuscular volume (MCV) or mean corpuscular haemoglobin (MCH) indicating that they may be a carrier, therefore triggering further β-thalassaemia diagnostic testing. Little is known about the processes currently applied across the different hospitals and practices within Australia to screen women for β-thalassaemia, as well as both women’s and healthcare professionals’ attitudes towards this screening process. To further understand the β-thalassaemia carrier screening process(es) undertaken within Victoria as well as the acceptability of this different approach to carrier screening, a qualitative study was carried out. This aimed to explore carriers’ and health professionals’ experiences of and attitudes towards the β-thalassaemia carrier screening process in Victoria. Semi-structured interviews were carried out with 26 female carriers of β-thalassaemia who had been pregnant within 12 months prior to being interviewed, 10 carrier couples of β-thalassaemia, as well as 23 healthcare professionals who attend to women during the antenatal β-thalassaemia screening process. Data were analysed using inductive content analysis and process mapping. Findings revealed that women had undergone variable experiences while being identified as a carrier, with surprisingly more than half of the participants being made aware of their carrier status prior to pregnancy, at various ages. This was due to women having undergone FBEs for numerous reasons, other than thalassaemia screening specifically. Pre-pregnancy screening was seen to be preferable due to both women and healthcare professionals believing this to be the most suitable time for testing. Other women had only become aware of their carrier status during pregnancy. Variation was also seen amongst the screening processes carried out by the different healthcare professionals, with often little use of guidelines and lack of knowledge, which was often not believed to be ideal by healthcare professionals. This highlights a need for further education of healthcare professionals. Most of the women did not recall being informed about β-thalassemia before notification of their carrier status and therefore did not make a decision about being screened. They were generally satisfied, however, for doctors to make the decisions regarding tests conducted. The women however would have preferred to have been informed about the screening test before it was carried out. Insufficient information was also reported being provided to women after they were notified of their carrier status, leading to misconceptions and confusion. Even though most women did not provide informed consent, this variable thalassaemia carrier screening process incorporated into routine care was seen to be acceptable amongst this community who overall had positive attitudes. A greater emphasis, however, should be placed on information provision, both pre and post testing, as well as further education for healthcare professionals.