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“It gives them more options”: preferences for preconception genetic carrier screening for fragile X syndrome in primary healthcare

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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 carriers was emphasized. There was a preference for preconception carrier screening and for providing people with the opportunity to make an informed decision about screening. Primary care was highlighted as a setting which would ensure screening is accessible; however, challenges of offering screening in primary care were identified including time to discuss screening, knowledge about the test and possible outcomes, and the health professionals’ approach to offering screening. With the increasing availability of genetic carrier tests, it is essential that research now focuses on evaluating approaches for the delivery of carrier screening programs. Primary healthcare is perceived as an appropriate setting through which to access the target population, and raising awareness is essential to making genetic screening more accessible to the general community.

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Acknowledgments

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.

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Authors and Affiliations

  1. Murdoch Childrens Research Institute, Melbourne, VIC, Australia

    Alison D. Archibald, Chriselle L. Hickerton, Samantha A. Wake, Alice M. Jaques & Sylvia A. Metcalfe

  2. Department of Paediatrics, The University of Melbourne, Melbourne, VIC, Australia

    Alison D. Archibald, Samantha A. Wake & Sylvia A. Metcalfe

  3. Victorian Clinical Genetics Services, Melbourne, VIC, Australia

    Alison D. Archibald & Samantha A. Wake

  4. Fragile X Alliance Inc., Melbourne, VIC, Australia

    Jonathan Cohen

  5. Centre for Developmental Disability Health Victoria, Monash University, Melbourne, VIC, Australia

    Jonathan Cohen

  6. Genetics Education and Health Research, Murdoch Childrens Research Institute, Royal Children’s Hospital, Flemington Rd, Parkville, VIC, 3052, Australia

    Sylvia A. Metcalfe

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  1. Alison D. Archibald
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  2. Chriselle L. Hickerton
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  3. Samantha A. Wake
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  4. Alice M. Jaques
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  5. Jonathan Cohen
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  6. Sylvia A. Metcalfe
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Correspondence to Sylvia A. Metcalfe.

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Alison D. Archibald, Chriselle L. Hickerton, Samantha A. Wake, Alice M. Jaques, Jonathan Cohen, and Sylvia A. Metcalfe declare that they have no conflict of interest. All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all patients for being included in the study.

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Archibald, A.D., Hickerton, C.L., Wake, S.A. et al. “It gives them more options”: preferences for preconception genetic carrier screening for fragile X syndrome in primary healthcare. J Community Genet 7, 159–171 (2016). https://doi.org/10.1007/s12687-016-0262-8

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  • DOI: https://doi.org/10.1007/s12687-016-0262-8

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