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Taking seriousness seriously in genomic health

European Journal of Human Genetics volume 30, pages 140–141 (2022)Cite this article

The Original Article was published on 27 September 2021

The ‘seriousness’ of a genetic condition has important implications for genetic health care. Indeed, this notion is both widely used in clinical practice and frequently referred to in policy. The seriousness (or severity) of a genetic condition is most often raised in a reproductive setting (both screening and diagnosis), although it may be relevant to other forms of clinical care and population screening, as well as debates over emerging technologies such as genome editing.

Yet for a concept so central to genomic health care and especially to prenatal genomics, it is surprising that a detailed account of ‘seriousness’ has received so little attention. It has been observed that determining whether a condition is deemed to be ‘serious’ has significant implications [1] and that the concept is complex and uncertain in many ways [2], but it has not really been pinned down. This is especially true when it comes to research that digs into what ‘serious’ might mean at a conceptual or philosophical level, or which draws on the lived experience of patients.

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Funding

The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission) is funded by the Australian Government’s Medical Research Future Fund as part of the Australian Genomics Health Futures Mission (GHFM), grant GHFM73390 (MRFF-G-MM). The grant is administered by the Murdoch Children’s Research Institute through Australian Genomics.

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  1. Faculty of Medicine and Health, Sydney School of Public Health, Sydney Health Ethics, The University of Sydney, Sydney, 2006, NSW, Australia

    Ainsley J. Newson & Lisa Dive

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  1. Ainsley J. Newson
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  2. Lisa Dive
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Correspondence to Ainsley J. Newson.

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Newson, A.J., Dive, L. Taking seriousness seriously in genomic health. Eur J Hum Genet 30, 140–141 (2022). https://doi.org/10.1038/s41431-021-01002-9

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