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Genomic medicine: breaking new ground

Cancer Genomics Project Manager Deborah Lakeland describes the cultural change sweeping across healthcare provision in the UK and its importance in clinical laboratories.

Genomics medicine is a rapidly evolving field that promises huge benefits of personalised care, especially for patients with cancer. Greater understanding of the molecular basis of disease is enabling access to more comprehensive diagnosis, prognosis, and targeted treatments than was possible before. Predicting the risk of future cancer development or adverse reactions to drugs also means that interventions, such as cancer surveillance, can be undertaken earlier and alternative treatments utilised to reduce the potential risk of future harm.

Breaking new ground

Back in 2013, Genomics England was commissioned by the Department of Health to set up the 100,000 Genomes Project, with the aim of mainstreaming whole genome sequencing (WGS) in the NHS. For the first time, patients with rare diseases and cancers were able to access WGS as a new standard-of-care test.

I joined the project in 2017 and was instrumental in developing the interdisciplinary working relationships, the sample pathways, and the laboratory processes, proving both in principle and in practice that WGS could be accessed by patients under the care of clinicians in the Royal Preston Hospital. Fast-forward another five years, and genomics is now a massive growth area worldwide that is redefining disease classification and personalising clinical care at pace and scale. There have been several factors driving this service transformation: worldwide collaboration is fostering a culture of genomics excellence, accelerated discovery of gene–disease and gene–drug pairs with increasing clinical utility detected by advanced sequencing technologies and translational research now readily adopted in clinics. Collectively, these improvements serve to reduce risk and improve both overall survival and progression-free survival in cancer care.

State of the art

In April 2021, the national Genomic Medicine Service (GMS) launched a National Genomic Test Directory with eligibility criteria for centrally funded tests, including everything from single-point mutations, to entire whole genomes (3 billion A, T, C, G bases) sequenced. The advanced test repertoire, updated annually, combined with pathways and service redesign, is increasing knowledge in the genomics database, whilst radically improving clinical management and patient outcomes. The GMS in the NHS is a world-leading model of care.

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