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What is a 'serious' genetic condition? The perceptions of people living with genetic conditions
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Boardman, Felicity K. and Clark, Corinna C. A. (2022) What is a 'serious' genetic condition? The perceptions of people living with genetic conditions. European Journal of Human Genetics, 30 . pp. 160-169. doi:10.1038/s41431-021-00962-2 ISSN 1018-4813.
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Official URL: https://doi.org/10.1038/s41431-021-00962-2
Abstract
Despite no consensus on the definition of ‘seriousness’, the concept is regularly used in policy and practice contexts to categorise conditions, determine access to genetic technologies and uses of selective pregnancy termination. Whilst attempts have been made to create taxonomies of genetic condition seriousness to inform clinical and policy decision-making, these have often relied on condition appraisals made by health and genetics professionals. The views of people with genetic conditions have been largely under-represented. This study explores the concept of seriousness through the perspectives of people with a range of ‘clinically serious’ conditions (fragile X conditions, spinal muscular atrophy, cystic fibrosis, haemophilia, thalassaemia). Attitudes towards suffering, quality of life (QoL) and selective pregnancy termination were elucidated from 45 in-depth qualitative interviews and 469 postal/online surveys. The majority of participants reported good health/wellbeing, and the capacity for good QoL, despite experiencing suffering with their condition. Notably, participants with later-onset conditions held more negative views of their health and QoL, and were more likely to view their condition as an illness, than those with early-onset conditions. These participants were more likely to see their condition as part of their identity. Whilst most participants supported prenatal screening, there was little support for selective termination. Moreover, social environment emerged as a critical mediator of the experience of the condition. The complex and rich insights of people living with genetic conditions might usefully be incorporated into future genetic taxonomies of ‘seriousness’ to ensure they more accurately reflect the lived reality of those with genetic conditions.
| Item Type: | Journal Article | ||||||||
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| Subjects: | R Medicine > RB Pathology | ||||||||
| Divisions: | Faculty of Science, Engineering and Medicine > Medicine > Warwick Medical School > Health Sciences Faculty of Science, Engineering and Medicine > Science > Life Sciences (2010- ) Faculty of Science, Engineering and Medicine > Medicine > Warwick Medical School |
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| Library of Congress Subject Headings (LCSH): | Genetic disorders, Medical genetics, Disabilities , Abnormalities, Human, Genetic screening, Human genetics | ||||||||
| Journal or Publication Title: | European Journal of Human Genetics | ||||||||
| Publisher: | Nature Publishing Group | ||||||||
| ISSN: | 1018-4813 | ||||||||
| Official Date: | February 2022 | ||||||||
| Dates: |
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| Volume: | 30 | ||||||||
| Page Range: | pp. 160-169 | ||||||||
| DOI: | 10.1038/s41431-021-00962-2 | ||||||||
| Status: | Peer Reviewed | ||||||||
| Publication Status: | Published | ||||||||
| Access rights to Published version: | Restricted or Subscription Access | ||||||||
| Date of first compliant deposit: | 13 September 2021 | ||||||||
| Date of first compliant Open Access: | 27 March 2022 | ||||||||
| RIOXX Funder/Project Grant: |
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