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Thousands more people in Wales will benefit from faster diagnosis of cancers and rare disease thanks to a new plan to increase the use of gene testing.

First published:
7 December 2022
Last updated:

Health Minister Eluned Morgan said the new Genomics Delivery Plan for Wales sets out how the NHS can take advantage of the genomics revolution in healthcare.

Genomics is the study of genes and genetic information and in recent years its use in healthcare has expanded rapidly leading to early detection and prevention of diseases, new treatments and personalised medicines. 

Ambitions set out in the plan include:

  • Offering more extensive genomic testing and support to patients with a suspected rare disease and for specific cancer types by increasing the number of genomes sequenced annually from 240 to 3,000 a year, within the next three years.
  • Offering up to 5,000 extensive genomic testing profiles annually to patients with newly diagnosed cancer to improve diagnosis and survival rates .
  • Creating a £15m Genomic Centre for Wales.
  • Strengthening the genomic surveillance of pathogens to help prevent and deal with communicable diseases, including the threat from new pandemics

Examples of how genomics is already benefiting people in Wales are the Wales Infants’ and Children’s Genome Service (WINGS), which was the first service in the UK to provide standard of care rapid whole genome sequencing for acutely unwell children with a likely underlying genetic cause; the use of a large gene panel across numerous cancers to deliver personalised treatments and diagnosis; and the development of the C. difficile genomics service, the first of its type in the UK, which is enhancing efforts to control outbreaks of this key pathogen in hospitals in Wales.

In the coming years, as well as increasing the amount of genomic testing and sequencing happening in Wales, one of the priorities within the Delivery Plan is to increase the use of non-invasive liquid biopsy at an earlier stage of the cancer pathway to inform personalised treatment and improve outcomes.

Minister for Health and Social Services, Eluned Morgan said:

“Genomics is revolutionising the way we think about healthcare and has already impacted the way we deliver many services. This plan will put us in a position to use genomics to transform how we deliver healthcare in the future. By preparing now, Wales will be ready when the use of genomics is commonplace in our health service.

“The role of genomics in healthcare has increased steadily since the pandemic. The adoption of these new technologies has already delivered real benefits for patients. It has provided us with a far more detailed understanding of what causes illness and infectious disease and is underpinning the development of new interventions that would have been unthinkable a decade ago.”

Minister for Economy, Vaughan Gething, who is responsible for science within the Welsh Government added:

“Over time, science has played a pivotal role in transforming modern medicine. The way we provide healthcare to people today is very different to how it was provided even 20 years ago. This has helped save countless lives.

“The advances scientists have made in understanding the genomic code means clinicians can increasingly detect suspected rare diseases early and offer highly personalised life-saving treatments.

“I’m proud that Wales is driving ahead with this ambitious plan, which will enable the Welsh NHS to further improve the health and well-being of people across the country.”

Dr Fu-Meng Khaw, National Director of Health Protection and Screening Services, Public Health Wales said:

“Pathogen genomics has played a critically important role in the detection of variants of concern in order to take action to reduce the impact of the COVID-19 pandemic. So far, the Pathogen Genomics Unit in Public Health Wales has successfully sequenced over 220,000 samples tested positive for SARS-CoV-2.  This has contributed significantly to building our understanding of the virus.”

“The Genomics Centre in Wales offers a fantastic opportunity to explore other applications of genomics at a population level, such as for health screening and transmission of infections between animals and humans.  Genomics Partnership Wales will provide a fertile foundation to build a public health genomics programme focussed on improving population health for people in Wales.”