Genomics

Genomics Medicine is a rapidly evolving field, promising 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 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 with the 100,000 Genomes Project

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 inherited and acquired cancers were able to access WGS as a new standard-of-care test. 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.

A state-of-the-art Genomic Medicine Service

In April 2021, the National Genomic Medicine Service launched a Genomic Test Directory with eligibility criteria for centrally funded tests, including everything from single point mutations, to entire whole genomes (3 billion ATGCs) 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 Genomic Medicine Service (GMS) in the National Health Service (NHS) is a world-leading model of care.

The GMS is delivered by 7 regional Genomic Laboratory Hubs, and aims to deliver equitable access to genomic testing in England, thereby increasing the genetic diversity of the clinical database, and the clinical actionability of relevant gene variants in >200 common cancers.

Where an inherited cancer predisposition is identified, patients undergo counselling and surveillance at the earliest opportunity to manage the risk of future cancer development. This care is then cascaded to affected blood relatives too.

Where a gene relating to adverse drug reaction is identified, the anti-tumour medicine can be administered at a lower dose with close observations, or alternative treatments considered that are compatible with the patient genetic make up. Tumours harbouring genetic susceptibility to anti-cancer immunotherapies are now associated with much improved clinical outcomes.

Liquid biopsies are harnessing ever increasing quantities of DNA, indicating which patients have complete pathological response to treatment, and can provide early indication of therapy resistance and relapse, in advance of clinical presentation.

Cancer-specific genomic instability scores, mutational signatures, and tumour mutation burden from whole genome sequencing are now routinely informing clinical decisions.

Programmes underway

Programmes underway include supporting implementation of the ‘Genome UK’ strategy to sequence 500,000 genomes, with whole genome sequencing mainstreaming as a standard-of-care test, developing new sample pathways that provide equitable access to advanced molecular analysis, and also the National Lynch Syndrome Transformation Project, which identifies more individuals carrying inherited cancer-predisposition genes.

The highly effective and enthusiastic team of Biomedical Scientists in the newly formed Cancer Genomics Operations Group, is facilitating equitable access to state-of-the-art analysis across our network, and serves as exemplar practice that will likely be replicated in laboratories nationwide.

For more information, contact Deborah Lakeland, Cancer Genomics Project Manager