Abstract

Genomic medicine is transforming the way in which we understand health and disease, particularly rare diseases and cancer. Rapid advances in DNA sequencing are having major implications for patients in terms of diagnosis, treatment and prognosis, provoking a shift from a traditional ‘one size fits all’ approach to strategies tailored to the individual, known as personalised medicine or precision medicine.1 The UK is investing heavily in genomic medicine, with NHS England becoming the first health service in the world routinely offering genomic testing,2 and all healthcare professionals will soon be expected to have an understanding of genomics and integrate this into their practice. In recognition of these advances, in 2017 the Welsh government introduced the Genomics for Precision Medicine Strategy, aimed at developing genetics and genomics to improve health and healthcare provision in Wales.3

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