Despite no consensus on the definition of ‘seriousness’, the concept is regularly used in policy and practice contexts to categorize conditions, determine access to genetic technologies and uses of selective pregnancy termination.
The importance of including the perspectives of people living with genetic conditions in understanding the subjective nature of ‘seriousness’ is increasingly acknowledged.
Indeed, there are examples in the literature of people with disabilities evaluating their condition and quality of life (QoL) differently—and often more positively—than others around them do, suggesting differences in condition appraisal between those with and without lived experience.
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[In a study in the European Journal of Human Genetics,] participants generally reported good current health, with very few stating they had bad or very bad health/wellbeing. Interview participants highlighted how their positive health status could come as a surprise to other people.
Samantha (32, CF), who was on the waiting list for a lung transplant, commented,
I think people are surprised when I say I’m doing fine and feel ok most days. Yes, I will have been doing nebulisers all morning and night…but that’s my normal. Perhaps my normal is different to other people’s, but it’s my normal, you know?
