Paediatrics (RCH) - Theses

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    The 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
    Ames, Alice ( 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’