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

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• 作者：Alison D. Archibald ; Chriselle L. Hickerton…
• 关键词：Population carrier screening ; Fragile X syndrome ; Genetic counseling ; Qualitative research ; Primary healthcare
• 刊名：Journal of Community Genetics
• 出版年：2016
• 出版时间：April 2016
• 年：2016
• 卷：7
• 期：2
• 页码：159-171
• 全文大小：372 KB
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• 作者单位：Alison D. Archibald (1) (2) (3)
  Chriselle L. Hickerton (1)
  Samantha A. Wake (1) (2) (3)
  Alice M. Jaques (1)
  Jonathan Cohen (4) (5)
  Sylvia A. Metcalfe (1) (2) (6)
  
  1. Murdoch Childrens Research Institute, Melbourne, VIC, Australia
  2. Department of Paediatrics, The University of Melbourne, Melbourne, VIC, Australia
  3. Victorian Clinical Genetics Services, Melbourne, VIC, Australia
  4. Fragile X Alliance Inc., Melbourne, VIC, Australia
  5. Centre for Developmental Disability Health Victoria, Monash University, Melbourne, VIC, Australia
  6. Genetics Education and Health Research, Murdoch Childrens Research Institute, Royal Children’s Hospital, Flemington Rd, Parkville, VIC, 3052, Australia
  
• 刊物主题：Human Genetics; Public Health; Epidemiology; Gene Therapy; Gene Function;
• 出版者：Springer Berlin Heidelberg
• ISSN：1868-6001

文摘

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.