Developments in whole genome sequencing technologies have catalysed incredible progress in the diagnosis of rare disease and the discovery of novel disease-associated genes. However, large-scale sequencing of population cohorts has revealed that many healthy individuals carry the same disease-causing variants as patients. The extent of this incomplete penetrance in individuals not ascertained on the basis of a family history or clinical diagnosis is neither well understood nor widely appreciated. In this talk, Professor Caroline Wright, Professor of Genomic Medicine at the Department of Clinical and Biomedical Sciences at the University of Exeter, outlines recent research into penetrance of different diseases across different populations, and discusses the broader implications of these findings for genomic screening. This is the 2024 Dr Stanley Ho Memorial Lecture, in collaboration with the Oxford Martin School, and it took place on 29 May 2024.

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