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World of Genomics: Wales

Wales is a small nation with a big personality! Best known for its love of rugby and daffodils, Wales also offers a wealth of natural beauty – from the stunning beaches of Pembrokeshire to the rugged peaks of Snowdonia. And did you know that Wales has more castles per square mile than anywhere else in the world? Wales is also the birthplace of the NHS – and just last year, Britain’s first SWAN (Syndromes Without a Name) clinic opened in Cardiff, signalling further investment of time, money and resources into Wales’ genomics infrastructure. Read on to learn more.

The population of Wales

Wales is part of the United Kingdom and is located to the west of the country. Its capital and main commercial and financial centre is Cardiff. The small nation is bordered by the Dee Estuary and Liverpool Bay to the north, the Irish Sea to the west, the Severn Estuary and the Bristol Channel to the south and England to the east. The largest island in England and Wales, Anglesey (Ynys Môn), is located off the northwest coast of Wales.

Figure 1 ¦ Map of Wales

Interestingly, research indicates that the Welsh may be the most ancient inhabitants of Britain, according to a genetic map of the British Isles. The project surveyed 2,000 people in rural areas of the country and found that the Welsh are genetically distinct from the rest of mainland Britain. Professor Peter Donnelly of Oxford University said, “The Welsh carry DNA that can be traced back to the last Ice Age, which was 10,000 years ago.” The study also found that people from Wales and Cornwall stood out distinctly on the map, with fewer traces of migrant groups in these areas. Donnelly suggests that the genetic similarities between the Welsh, Irish and French may be a result of ancient populations moving across into Britain after the last Ice Age, or of people travelling up the Atlantic coasts of France and Spain and settling in Wales thousands of years ago.

Geographic and demographic information

Summary statistics

  • Land area: 20,779 sq km
  • Gross domestic product (GDP):
    • Total: £75.7billion (2020)
    • Per capita: £23,882 (2020)

Population statistics

  • Population size: 3.136 million (2019)
  • Birth rate: 9 per 1,000 people (2020)
  • Death rate: 1,011.1 deaths per 100,000 people (2020)
  • Infant mortality rate: 4.1 deaths per 1,000 live births (2020)
  • Life expectancy:
    • Male 2020 estimate: 78.29 years
    • Female 2020 estimate: 82.09 years
  • Ethnicities: White (93.8%), Asian, Asian British or Asian Welsh (2.9%), Black, Black British, Black Welsh, Caribbean or African (0.9%), Mixed or Multiple ethnic groups (1.6%).

(Source: ONS, World Bank)

Healthcare system

As a devolved power, the Welsh government manages and delivers health services through seven local health boards (LHBs), which are responsible for both commissioning and providing health services in their respective regions. Unlike the other six, the Powys Health Board does not have a large District General Hospital, resulting in it commissioning many of its hospital services from across the border in England. It is also much less involved in directly providing secondary hospital care.

Wales no longer has a payment-by-results system like England, so does not use money to drive change in the system, but instead focuses on a more planning-based approach based around 3-year Integrated Medium Term Plans. This approach is designed to ensure that healthcare services are tailored to the specific needs of the population and that resources are allocated efficiently and effectively. The focus is on strategic goalsand shaping current and future services. Unlike England, Wales abolished all prescription charges in 2007, meaning all prescription medication is provided for free.

Alongside the LHBs, there are three NHS Trusts in Wales, each with an all-Wales remit. The Welsh Ambulance Services NHS Trust provides emergency and non-emergency patient transport, the Velindre NHS Trust provides specialist cancer services and hosts several national support services, and Public Health Wales provides all-Wales public health services and supports local Public Health Teams (which sit within LHBs). Health Education and Improvement Wales oversees the planning, education, training and development of the Welsh health workforce. The NHS Wales Delivery Unit provides support to the Welsh Government in monitoring and managing performance delivery across NHS Wales, and 1000 Lives Improvement supports improvements in health and social care across Wales.

Health priorities

Healthcare in Wales is currently facing a number of challenges, including an ageing population, rising long-term (chronic) health conditions and wealth disparities. To address these challenges, Public Health Wales has developed a Long-term Strategy for 2018-2030 that focuses on long-term prevention,  collaboration and community involvement. The strategy also aims to be innovative and responsive to new and existing technology to maximize opportunities for improving health outcomes.

The main risk factors for poor health in Wales are smoking and obesity. The future challenges include a rise in age-related diseases, high levels of risk factors for developing future health conditions, environmental factors impacting the next generation, and health-damaging behaviours driven by unequal access to economic, social and environmental opportunities. To tackle these challenges, the policy approach in Wales aims to shift power to the people and work collectively towards a healthy and sustainable society.

The Long-term Strategy has developed seven new strategic priorities that align with the aims and actions within the “Healthier Wales” plan. This plan is a holistic approach to health and social care with a focus on health,wellbeing, and preventing illness. The “Prosperity for All” national strategy has four key themes that have been integrated into the Long-term Strategy. The Parliamentary Review of Health and Social Care in Wales identifies important challenges facing the health and care services, such as funding, workforce, recruitment, and rising demand and public expectations. Public Health Wales considered a wide range of evidence, including their own publications, to develop the Long-term Strategy. In summary, the healthcare priorities in Wales are to address the challenges of an aging population, reduce the gaps in healthcare accessibility and increase  sustainability among health and care services.

Genomic medicine capabilities

In Wales, very recent developments in genomic medicine have the potential to improve the lives of those affected by rare diseases (diseases that affect less than 1 in 2,000 people). There are thousands of these disorders and cumulatively they affect 1 in 17 people in Wales, equating to around 175,000 people across the country. Diagnostic services for these diseases are provided largely by the NHS All Wales Genetics Laboratory in conjunction with the UK Genetic Testing Network.          

There are thousands of known rare conditions that affect both children and adults, but some are so uncommon and difficult to diagnose they are known as a ‘syndrome without a name’ or SWAN. Britain’s first SWAN Clinic opened at the University Hospital of Wales in 2022. The SWAN Clinic was established by the Cardiff and Vale University Health Board, commissioned by the Welsh Health Specialised Services Committee (WHSSC) and funded by the Welsh Government, to improve treatment pathways for people living with rare, undiagnosed conditions across Wales.

The SWAN clinic aims to shorten the time that people living with an undiagnosed condition wait for a diagnosis, to improve medical knowledge and to foster further research. The launch of the SWAN Clinic coincides with the launch of the Wales Rare Diseases Action Plan by the Rare Diseases Implementation Group (RDIG). This plan aims to improve the care of all people with rare diseases by helping patients and families get a diagnosis faster.

Moreover, every newborn child in Wales is entitled to genetic screening. The newborn bloodspot screening programme involves taking a small sample of blood from the baby’s heel five days after they are born. The blood sample is screened for conditions recommended by the UK National Screening Committee, including inherited metabolic disorders, congenital hypothyroidism, cystic fibrosis, and sickle cell disorders. The programme aims to reduce mortality and/or morbidity from these conditions by ensuring they benefit from early prevention and treatment.

In late 2021, the All Wales Medical Genomics Service announced the launch of Cymru Service for Genomic Oncology Diagnoses, a “groundbreaking new service for people with cancer with the ambition of embedding genomic testing into routine care.” The service aims to support oncologists, haematologists and other healthcare professionals to routinely undertake rapid and extensive genomic analysis of cancer samples and tailor treatment accordingly. The plan is that within 10 years, all cancer patients will be offered genomic testing on a routine basis in Wales. Furthermore, The Welsh Government has put aside more than £86M in funding for a brand-new cancer centre to replace Velindre Hospital in Cardiff.

Notable projects

  • 100,000 Genomes Project: Wales joined this project in 2018 and offered Welsh patients with rare genetic diseases whole genome sequencing tests to incorporate genomic medicine into medical treatment plans in Wales.
  • WINGS (Wales Infants’ and Children’s Genome Service): This was launched in 2020 to provide critically ill children in Wales with genomics tests that helped enable clinicians, parents and carers to make evidence informed decisions about the child’s healthcare. Wales was the first in the UK to provide rapid whole genome sequencing for acutely unwell children with a likely underlying genetic cause as part of routine care.
  • Genomics for Precision Medicine Strategy: A government strategy to create globally renowned cutting-edge genomics services for medicine and public health in Wales.
  • Genomics Delivery Plan for Wales: The Welsh government’s plan to collaborate with patients, the public, NHS, academia, and industry, in line with the goals outlined in Genome UK: the future of healthcare. Genome UK is a plan outlining the goal of expanding the UK’s dominance in genomic healthcare and research.

Notable organisations and companies

  • All Wales Medical Genomics Service: A healthcare organization offering a wide range of diagnostic testing and clinical services, including genetic testing, for individuals who have cancer or rare genetic conditions or who are worried about them.
  • Genomics Partnership Wales: Aims to further develop genomics services and research activities in Wales and represents several organisations across several disciplines coming together to meet these aims.
  • PenGU (Pathogen Genomics Unit): Started as part of the Welsh Government’s response to the COVID-19 pandemic and has sequenced and shared more SARS-CoV-2 genomes than any other country in the world except the United States and England.
  • Wales Gene Park: An organization that supports and advances genetic and genomic research throughout Wales, hosted by the Division of Cancer and Genetics (DCG) at Cardiff University (CU) School of Medicine. It is financed by the Welsh Government via Health and Care Research Wales.
  • Cymru Service for Genomic Oncology Diagnoses: Launched in 2021, this service is for routine genomic testing for cancer patients across Wales.
  • SWAN UK: The University Hospital of Wales opened the first SWAN (syndrome without a name) Clinic in Britain. SWAN UK is a charity and support network for families affected by SWAN.

Notable individuals

  • Steve Jones: Welsh geneticist, previously Head of the Department of Genetics, Evolution and Environment at University College London and author of several popular science books such as “The Language of Genes”.
  • Meena Upadhyaya OBE: Indian-born Welsh medical geneticist and an honorary distinguished professor at Cardiff University. Her career centers on various genetic disorders, with a particular emphasis on neurofibromatosis type I and facioscapulohumeral muscular dystrophy.
  • Aneurin Bevan: Spearheaded the creation of the NHS in 1948 and the founding of the welfare state in the UK.

Future genomics landscape

Past partnerships and collaborations between government, healthcare providers, and academic institutions have laid the foundation for future investment in genomic medicine in Wales. The Wales Gene Park has supported research in the field of genetics and genomics. Additionally, the All-Wales NHS Genetics Laboratory and Medical Genetics Service, as well as expertise in genetics and genomics within higher education institutions, particularly Cardiff University, provide a strong foundation for Wales’ future genomics landscape.  

In 2022, as part of the Genomics Delivery Plan for Wales, Health Minister Eluned Morgan announced aims to increase the number of genomes sequenced annually from 240 to 3,000 within three years, to offer 5,000 genomic testing profiles annually to patients with newly diagnosed cancer, and to create a £15m Genomic Centre for Wales to strengthen genomic surveillance of pathogens. The plan also prioritizes the use of non-invasive liquid biopsy at an earlier stage of the cancer pathway. Eluned Morgan said, “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.”

Genomics Partnership Wales (GPW) is a key player in advancing the future of genomics in Wales through its partnerships with key organisations such as AWMGS, The Welsh Government, PENGU, and more. These partnerships bring together a wide range of expertise including government figures, medical genetics services, universities, public health organizations and other stakeholders. The partnerships allow GPW to leverage the strengths of each organisation, align clinical and laboratory services and create a collaborative public health system that leverages genomics to improve patient outcomes. GPW is also working to increase patient and public involvement in their work and to build a strong workforce in genomics. The aim of the GPW is to ensure that “genomics can benefit from true integration; pooled resources, shared knowledge and expertise – to ensure that Wales’ genomic health and research provision is fit for the future.”

In 2021, GPW was granted £15.3M by the Welsh Government to develop a state-of-the-art genomics facility. The refurbished Cardiff Edge Life Sciences Park will provide a welcoming environment for patients, world-class labs for research and containment, consulting rooms, office spaces and more. This facility will be part of Wales’ precision medicine initiative and will aid in early disease detection, improve access to clinical trials and create economic benefits through investment and job creation. Eluned Morgan, Minister for Health and Social Services said: “The new £15.3m invested will help to support a national focus on new services, new research studies and increased partnership interaction. Wales has established itself at the forefront of genomics services and research and as a government we continue to invest in projects that are improving health outcomes, including developing new genetic tests for cancer services, improving on the Wales Infant’s and Children’s Genome Service as well as the world-leading SARS-CoV-2 service. Genomics Partnership Wales will very much build on this work through co-locating genomics disciplines at the new site and I am excited to see what this partnership will deliver in the future.”