Paediatrics (RCH) - Theses

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    Very often the answer's not black or white: current practice, clinician and parental experiences of genomic testing in paediatric genetics clinics
    PAUL, JEAN ( 2015)
    Developmental delay (DD) has been estimated to affect 1 – 3% of the population and the underlying cause often remains unknown. For parents, receiving a diagnosis for their child’s DD can be a source of validation, and may impact upon their child’s prognosis, treatment and access to available supports. New genetic technologies, chromosomal microarrays (CMA), are now used across Australia to help end the ‘diagnostic odyssey’ families often experience. CMA tests have the capacity to identify genetic changes at much higher resolutions than was previously possible, but may increase the complexity and uncertainty of results. There is no research into the process of these consultations and the way in which this information is communicated to patients attending a genetics clinic. Using qualitative techniques and guided by the frameworks of symbolic interactionism and interactional sociolinguistics, this study provides a rich and nuanced analysis of paediatric genetic consultations. A multi-layered approach was used, enabling investigations of both the ‘front stage’ (consultations) and ‘backstage’ (interviews with parents and clinicians) to facilitate and further understand emerging patterns. Four data sources were used: (1) pre-consultation surveys with parents (n=32); (2) audio-recordings from consultations (n=32); (3) post-consultation telephone interviews with parents (n=32); and (4) post-consultation interviews with clinical geneticists (n=10). Overwhelmingly, parents were complimentary regarding consultations and described feeling reassured. Those who were disappointed were largely parents who were desperate for a diagnosis. The vast majority of parents reported a positive relationship with the clinician and felt that the genetic information had been explained in a very useful manner. Clinicians described consultations as varied and dependent on many factors including parents’ hopes and diagnostic expectations. They identified their primary role as a diagnostician but also acknowledged the therapeutic benefits these consultations could provide to families. Clinicians displayed mixed opinions regarding new tests, appreciating the benefits while also wary of inherent complexities and uncertainties that more detailed genetic testing would bring. Seven phases were identified within consultations, and on average clinicians contributed more words than parents, however there was variation across and within consultations. Although content of consultations was extremely similar, clinicians appeared to have varied approaches, and different styles were described including the clinical assessment approach and conversational style. Some parents were able to describe their experiences of their child’s development as a ‘narrative’, while during other consultations clinicians seemingly had a checklist of closed questions. Most clinicians used an historical narrative to describe the evolution of genetic testing; comparing past and current limitations with the promise of future genomic technologies. Findings enabled the development of an ‘ideal’ consultation in this setting, which highlights the importance of a positive clinician-parent relationship, especially in light of diagnostic uncertainty and advancing genomic testing capabilities. Narrative medicine could play a valuable role both for parents and clinicians as they make sense of genomic testing and diagnostic uncertainty. With the impending introduction of whole genome sequencing into a clinical setting, now is an ideal time to reflect and learn from past and present experiences, in order to maximise the therapeutic potential of such scientific discoveries.
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    Exploration of antenatal β-thalassaemia carrier screening in Victoria, Australia
    Cousens, Nicole Elizabeth ( 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.