Whilst the NHS may be facing some of the greatest challenges of its 70-year existence, breakthroughs in Genomic Medicine are revolutionising its approach to individualised patient care.

Genomic Medicine is, as the name suggests, medicine concerned with genes – the heredity biological units made up of our DNA. In recent years, a large focus within this field has been genetic testing – in which individuals can essentially be pre-screened for certain inherited genetic diseases such as breast cancer.

Up until now, many NHS hospitals have only offered limited genetic testing, based upon availability of resources and regional expertise. However, as of October 2018, the introduction of seven new specialist centres which will have the facilities to read, analyse and interpret patient DNA, means that health professionals will be able to offer patients treatment options tailored to their specific needs.

This step towards “precision medicine” will allow more efficient diagnosis of rare diseases and reduce the incidence of adverse drug reactions. The new service is built upon the 100,000 Genomes Project which was established by the Department of Health in 2013. So far, 70,000 whole genomes of people with cancer or genetic diseases have been read and analysed. Although there have been setbacks along the way, such as unsuitable DNA storage techniques damaging samples, the overall progression in this field is unparalleled.

The NHS will be the only health service in the world to offer such accessible and routine genetic testing to its patients. The seven Genomics England hubs will be set up around the country, with a separate lab in Cambridge performing whole genome sequencing. Thirteen National Genomic Medicine centres will make use of multidisciplinary teams who will collate and write reports for each patient using the service. Results will be stored in a national directory and continually updated as medical research advances.

The Genomic services will first target cancers and rare genetic diseases as these are fields with clear and well-researched benefits. However, it is hoped that other tests indicating the early onset of diseases such as Parkinson’s and dementia will be developed in the future.

William Newman, vice-chair of the British Society for Genetic Medicine commented “when you set out an ambition it doesn’t mean everything will be in place from day one, but it gives a clear steer on the direction of travel. It’s good to be set a challenge that will put you at the forefront of medicine”.

So, as the NHS celebrates an age most would associate with retirement, it continues to deliver world-leading practice that will benefit future generations in ways unimaginable at its humble beginnings.

 


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