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.
Highlights
As an era of targeted genetic testing gives way to global mainstreaming of high output genomic sequencing, important decisions need to be made regarding which genetic variants, associated with which conditions, are considered ‘worth knowing’ [1]
This paper examines the perspectives and experiences of adults living with highly contrasting genetic conditions—including conditions that are treatable, those which are life-limiting, those involving cognitive and/or physical impairment (Table 1)
The qualitative data revealed that participants, such as James, who had lived with their condition since birth or childhood—even though his condition had changed over time and had implications for health as well as disability—were more likely to define quality of life (QoL) as a combination of factors external to Current health and wellbeing, QoL, and suffering themselves, such as social relationships, interests and activities, Participants generally reported good current health, with very few which haemophilia did not preclude
Summary
As an era of targeted genetic testing gives way to global mainstreaming of high output genomic sequencing, important decisions need to be made regarding which genetic variants, associated with which conditions, are considered ‘worth knowing’ [1]. Building on guidelines produced by the American College of Medical Genetics [10], various attempts have been made to operationalise the concept of ‘seriousness’ by researchers [6, 11,12,13], authoritative bodies [14], and working groups [15] in order to support clinical and policy decision-making. These attempts often draw on the views of professionals (e.g. obstetricians, genetics professionals, paediatricians), to delineate core ‘dimensions’ of seriousness (e.g. age of onset, lifespan, variability of symptoms, effective treatment)
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