Advances Wales magazine marks centennial issue with a special feature on 'Innovation in medical genomics and genetics'

The editorial quarterly publication, produced by Welsh Government, has a rich and longstanding history ‘showcasing the latest news, research and developments in science, technology and engineering in Wales’.

In this special edition, the magazine featured some of the notable successes by the All Wales Medical Genomics Service and our partners from across the Genomics Partnership Wales network including Public Health Wales Pathogen Unit (PenGU).

‘From the first edition of Advances Wales, published in 1993, the value of extracting information from a patient’s DNA was recognised and research was delivering new diagnostic methods for genetic diseases. Genetic advancements in research were regularly reported over the years even though The Human Genome Project (HGP) didn’t complete the mapping of the human genome until April 2003. Fast-forward to today, the use of state-of-the-art genomics techniques in medicine to help diagnose and track disease and to support personalised treatments for patients is being used across the National Health Service (NHS)’.

Among the ‘state of the art genomic’ services cited in the article included: 

All Wales Psychiatric Genomics Service (AWPGS)

Launched in 2022 and conceived from the needs of people with lived experience of mental ill health, AWPGS aims to provide genetic counselling and access to genetic testing for people across Wales who are genetically more likely to experience a mental health disorder. The service is underpinned by a multi-disciplinary team of experts including psychiatrists, geneticists, genetic counsellors, clinical scientists, psychologists, pharmacists, paediatricians and academic mental health and social science researchers. 

Pharmacogenetic DPYD service

Wales was one of the first nations in the UK to routinely provide all cancer patients being treated with certain types of chemotherapy DPYD screening to identify their risk of severe side effects and help prevent this occurring. Low levels of the DPD enzyme (predicted by the genetic test) can result in a build-up of these chemotherapy drugs, thereby making the side effects more severe and occasionally fatal. The DPYD test will be offered prior to the start of chemotherapy with results available in as little as 3 working days. With such quick turnaround times, treatments can be adjusted accordingly leading to significantly improved patient outcomes.

Cymru Service for Genomic Oncology Diagnoses (CYSGODI)

In 2019 AWMGS launched the CYSGODI service which saw Wales leading the way in the implementation of state of the art genomic testing services into routine clinical practice for NHS patients. CYSGODI is a revolutionary service which support oncologists, Haematologists and other healthcare professionals to undertake rapid and extensive genomic analysis of cancer samples on an unprecedented scale. In doing so, targeting patients who harbour specific changes in the genetic make-up of their cancer cells and providing more tailored treatment options using novel anti-cancer treatments which can significantly reduce the rate which cancer spreads in the body and improve survival outcomes compared to traditional approaches. Over the next ten years the aim to routinely offer cancer patients in Wales access to clinical trials and research.

 Wales Infants and Children's Genome Service (WINGS)

AWMGS Genetic Consultants, Bioinformaticians and Clinical Scientists have been working in partnership with specialist Paediatric Consultants and Cardiff University to develop the UK’s first diagnostic rapid Whole Genome Sequencing (WGS) service for paediatric patients. The AWMGS WINGS test is designed to reduce the child’s diagnostic journey by searching through their whole genome data to find a genetic cause of their clinical features.

Also referenced was the incredible work of our partners Public Health Wales Pathogen Unit (PenGU) for their world renowned contribution in sequencing over 100,000 covid-19 samples. In doing so, the team has furnished scientists with invaluable information as to how the virus has evolved and developed across Wales, and to what affect new variants have on how the virus behaves.

To read the full Advances Wales magazine, please click here.