Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophy: patterns of community and healthcare provider participation in a Victorian screening program
Ruth Leibowitz
A * , Sharon Lewis B C , Jon Emery D , John Massie E F G , Melanie Smith H , Martin Delatycki H I J and Alison Archibald J K *
A Department of General Practice, University of Melbourne, Melbourne, Vic., Australia.
B Department of Paediatrics, Melbourne Medical School, Royal Children’s Hospital, Parkville, Vic., Australia.
C Murdoch Children’s Research Institute, Parkville, Vic., Australia.
D Centre for Cancer Research, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, Vic., Australia.
E Department of Respiratory Medicine, Royal Children’s Hospital, Parkville, Vic., Australia.
F Children’s Bioethics Centre, Parkville, Vic., Australia.
G Department of Paediatrics, Royal Children’s Hospital, University of Melbourne, Murdoch Children’s Research Institute, Parkville, Vic., Australia.
H Victorian Clinical Genetics Services, Parkville, Vic., Australia.
I Bruce Lefroy Centre for Genetic Health Research, Murdoch Children’s Research Institute, Flemington Road, Parkville, Vic. 3052 Australia.
J Department of Paediatrics, University of Melbourne, Parkville, Vic., Australia.
K Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Melbourne, Vic., Australia.
Australian Journal of Primary Health 28(6) 580-587 https://doi.org/10.1071/PY21247
Submitted: 9 November 2021 Accepted: 3 August 2022 Published: 4 October 2022
© 2022 The Author(s) (or their employer(s)). Published by CSIRO Publishing on behalf of La Trobe University. This is an open access article distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND)
Abstract
Background: The Royal Australian and New Zealand College of Obstetricians and Gynaecologists and The Royal Australian College of General Practice recommend that information on carrier screening 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. The aim of this study was to investigate patterns of participation by healthcare providers (HCP) and the community in screening.
Methods: Participation in a Victorian program screening for CF, SMA and FXS between September 2013 and October 2018 was analysed. Requesting HCP and patient data were extracted from screening request forms. Data were analysed with respect to profession of requesting HCP, and characteristics of women screened (age, pregnancy status, socioeconomic status, geographic location, and family history of CF, SMA or FXS). In total, 21 172 women and 1288 HCPs participated in the program over this period.
Results: There was a steep socioeconomic gradient in screening uptake, with nearly half the women screened (10 349) being in the highest socioeconomic quintile. The screening rate was much higher in metropolitan areas than in regional areas. Obstetricians made most of the requests for screening, whereas 20% of requests were by GPs. Most participating GPs only made a single screening request (78%) and very few GPs made >100 screening requests compared with obstetricians (0.2% vs 17%). GPs were more likely to screen women before pregnancy compared with obstetricians (47% vs 11%). Approximately 1.5% of Victorian women of child-bearing age and 3% of pregnant Victorian women were screened by this program over the period of this study.
Conclusion: This study highlights the translation gap between recommendations and practice, with marked inequity of access to reproductive genetic carrier screening in relation to socioeconomic status and geography. Increased participation by GPs could improve community access to reproductive genetic carrier screening, particularly access to preconception screening. Addressing the causes of inequity of access will allow more women and couples the opportunity to make informed choices about participation in screening.
Keywords: community health, cystic fibrosis, fragile X syndrome, general practice, genetics, healthcare disparities, reproductive carrier screening, reproductive health services, spinal muscular atrophy.
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