General Practice and Primary Care - Theses

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Start date: 2021 × Subject: Carrier screening ×

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    Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophy in general practice
    Leibowitz, Ruth Helen ( 2022)
    The Royal Australian and New Zealand College of Obstetricians and Gynaecologists and The Royal Australian College of General Practice recommend that information on reproductive genetic carrier screening (RGCS) for at least the most common inherited genetic conditions in our population, that is thalassaemia, cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome (FXS), should be offered to all women planning pregnancy or in early pregnancy regardless of family history or ethnicity. While it is recognized that general practice is an appropriate place to undertake RGCS, little is known about when and how general practitioners are offering RGCS in Australia and what their attitude to screening is. This study, using qualitative and quantitative methods, has investigated when, where, how and why general practitioners (GPs) have participated in a 3-condition RGCS testing for FXS, CF, and SMA, and has measured carrier frequencies for these conditions in the community. GP participation was generally low, with much greater participation among obstetricians. Marked inequity of access to RGCS was identified, with very low rates of screening among socioeconomically disadvantaged women and women from rural and regional areas. GPs offering screening had a positive attitude to the role of general practice in RGCS. They were confident in their counselling skills and reported that the offer of screening was acceptable to their patients. Offering screening as part of preconception care was seen as preferable to antenatal screening. Barriers to offering screening in general practice were low levels of GP education in carrier screening, out of pocket cost of screening, regional or rural locations, and low frequency of preconception care consultations. Addressing the causes of inequity of access to screening in general practice, particularly the out-of-pocket cost of screening, and poor provision of preconception care, will allow more women and couples the opportunity to make informed choices about participation in screening.