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Prevention of lives affected by haemophilia : a mixed methods study of the views of adults with haemophilia and their families towards genetic screening
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Boardman, Felicity K., Hale, Rachel, Gohel, Raksha and Young, Philip J. (2019) Prevention of lives affected by haemophilia : a mixed methods study of the views of adults with haemophilia and their families towards genetic screening. Molecular Genetics and Genomic Medicine . e618. doi:10.1002/mgg3.618 (In Press)
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Official URL: https://doi.org/10.1002/mgg3.618
Abstract
Background
Genomic sequencing technologies have made the possibility of population screening for whole panels of genetic disorders more feasible than ever before. As one of the most common single gene disorders affecting the UK population, haemophilia is an attractive candidate to include on such screening panels. However, very little is known about views towards genetic screening amongst people with haemophilia or their family members, despite the potential for a wide range of impacts on them.
Methods
Twenty-two in-depth qualitative interviews were undertaken to explore the views of adults with haemophilia and their family members, recruited through the Haemophilia Society UK. These interviews were used to develop a survey, the Haemophilia Screening Survey (UK), which was distributed in paper and online format through the support group, receiving 327 returns between January and June 2018.
Results
57% of the sample supported pre-conception carrier screening of the population for haemophilia, and 59% supported prenatal carrier screening. Key reasons for support included a desire to reduce pregnancy terminations and increase awareness of haemophilia. Despite support for screening however, 90% of the sample disagreed with pregnancy terminations for haemophilia.
Conclusions
Families and adults living with haemophilia are more supportive of screening for information and preparation purposes than to prevent boys with haemophilia from being born. A distinction was made between preventing the disease and preventing the lives of people with it, with support shown for the use of screening to achieve the former, but not at the expense of the latter.
| Item Type: | Journal Article | ||||||
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| Subjects: | R Medicine > RC Internal medicine | ||||||
| Divisions: | Faculty of Medicine > Warwick Medical School > Health Sciences Faculty of Science > Life Sciences (2010- ) Faculty of Medicine > Warwick Medical School > Health Sciences > Social Science & Systems in Health (SSSH) Faculty of Medicine > Warwick Medical School |
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| Library of Congress Subject Headings (LCSH): | Hemophilia -- Prevention, Medical screening | ||||||
| Journal or Publication Title: | Molecular Genetics and Genomic Medicine | ||||||
| Publisher: | Wiley | ||||||
| ISSN: | 2324-9269 | ||||||
| Official Date: | 5 March 2019 | ||||||
| Dates: |
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| Date of first compliant deposit: | 11 January 2019 | ||||||
| Article Number: | e618 | ||||||
| DOI: | 10.1002/mgg3.618 | ||||||
| Status: | Peer Reviewed | ||||||
| Publication Status: | In Press | ||||||
| Access rights to Published version: | Open Access | ||||||
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