Journal article
“It gives them more options”: preferences for preconception genetic carrier screening for fragile X syndrome in primary healthcare
AD Archibald, CL Hickerton, SA Wake, AM Jaques, J Cohen, SA Metcalfe
Journal of Community Genetics | Published : 2016
Abstract
This study aims to explore stakeholder views about offering population-based genetic carrier screening for fragile X syndrome. A qualitative study using interviews and focus groups with stakeholders was undertaken to allow for an in-depth exploration of views and perceptions about practicalities of, and strategies for, offering carrier screening for fragile X syndrome to the general population in healthcare settings. A total of 188 stakeholders took part including healthcare providers (n = 81), relatives of people with fragile X syndrome (n = 29), and members of the general community (n = 78). The importance of raising community awareness about screening and providing appropriate support for..
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Funding Acknowledgements
This work was supported by the Fragile X Alliance Inc., Murdoch Childrens Research Institute, The University of Melbourne, and the Victorian Government's Operational Infrastructure Support Program. Dr. Alison Archibald was supported by an Australian Postgraduate Award scholarship. We would like to thank Yasmin Bylstra for her assistance with data collection in the early stages of this project and Dr. Jean Paul for the assistance with preparing this manuscript for submission. The authors would also like to express their appreciation to the participants for taking the time to share their views and perspectives with us. We thank Victorian Clinical Genetics Services and the Fragile X Alliance Inc. for assisting us to recruit relatives of people with FXS through their services.