Genomics – the science that exploits the groundbreaking advances made in sequencing the human genome – the body’s unique map of genes – has the potential to revolutionise healthcare. Today, specialist doctors use the results of genetic and genomic tests to confirm the diagnosis and risk of rare conditions such as cystic fibrosis or inherited predisposition to breast and ovarian cancer in patients and their families. Genetics and genomics are also having a significant impact on the way that individual treatment is planned, especially in cancer care – determining, for example, which drugs are likely to work best for an individual patient and whether chemotherapy really is the optimum choice. Furthermore, the field of pathogen genomics is also developing apace, in order to improve the management of infectious diseases such as HIV, outbreaks of flu and associated public healthcare.
Ambitious plans are afoot in Wales, to move both human and pathogen genetics and genomics from the fringes of healthcare into the mainstream of everyday medicine. Working collaboratively with patients and the public, the All Wales Medical Genetics Service, Wales Gene Park, Public Health Wales, the Welsh government, and others, have developed a five- to 10-year plan in order to transform the way patients are treated. The strategy aims to enable equitable patient access to cutting-edge genetic and genomic testing, and to establish the principality as a leader in the field of personalised or precision medicine and associated research. Cardiff and Vale University health board seeks to attract high-calibre applicants to support the implementation and delivery of this strategy, and several new posts are now live to recruitment (see link below).
Professor Julian Sampson, director of the Wales Gene Park – which has a key role in bringing the strategy to life – says: “The strategy really does represent something of a step-change in the level of commitment in Wales to making these technologies work in the context of the NHS, and in biomedical research.”
Dr Alexandra Murray, a consultant clinical geneticist at the University Hospital of Wales, Cardiff, sits on the multi-sector taskforce set up to deliver the Welsh Genomics for Precision Medicine Strategy. She believes the plan will have a profound impact on healthcare. “Genetics is fundamental to all aspects of health,” she explains. “Healthcare has become more and more expensive without increased funding to match demand. This means that collaboratively, we have to start using money more carefully. Genomics is one of the ways that we can do that – you can use it to target the right treatments to the right patients, eliminating the side effects [of drugs] for those people who are not going to respond to a given treatment.”
The strategy, which has £6.8m backing from the Welsh government, commits to working with patients and the public to better understand and maximise the opportunities for sharing genomic data, that will, in turn, drive research and shape future health service development for patient benefit. It pledges to train an NHS workforce to have the knowledge and skills to bring the vision to life. The health board is looking to recruit a genomics education and training lead to ensure that workforce development is prioritised.
Murray, who leads on the strategy’s workforce development, says: “Until five years ago, genetic testing was largely the responsibility of geneticists like me. But the whole point of the strategy is the move towards mainstream, bringing testing into secondary care specialisms – our role will then change, focusing on more complex cases. We will start by [developing the workforce] in areas where we already work, such as cardiology, oncology and neurology. In the future, as genetic and genomic testing becomes much more relevant to treatment, we will see more of a focus on multidisciplinary teamwork involving representation from medical genetics alongside other specialisms.”
The Wales Gene Park will also help develop the NHS workforce, expanding its existing role in education. “Many working in the NHS today completed their further education before the advent of genomics, so it’s about giving a large number of people the basics,” says Sampson. “The Wales Gene Park will provide support with continuing professional development, involving small-scale educational events in the workplace, through to hosting large symposia. We already do a lot of work with schools and patient groups, but I think there is a real lack of understanding about the opportunities offered by genomics, which is reflected in the uptake of genetic and genomic services by patients and their families,” Sampson says. The Wales Gene Park will continue to work to develop the public’s understanding about the field.
“It’s one of those sciences that people find difficult to explain; telling a patient that their genetic data is going to be stored can be concerning to some and this is why the strategy will prioritise public involvement and engagement at every stage,” says Dr Rachel Butler, head of the All Wales Genetics Laboratory.
The development of a “nimble and responsive” national commissioning policy is also part of the strategy, so that advances in precision medicine and genomics in different clinical specialisms can be adopted quickly by the NHS. A “virtual” Welsh Genomic Medicine Centre is being established. It is supporting Wales’s involvement in the 100,000 Genomes Project – the Genomics England initiative that is sequencing 100,000 genomes of 70,000 patients and their families with rare conditions and patients with cancer to build a NHS genomics medicine service. The centre will also be expected to “bring genomic research into Wales”.
There is little doubt that the strategy is ambitious and its success depends on cross-sector collaboration within and beyond Wales, including NHS, academia, patients and the public, the private sector and government.
In the strategy’s favour is that the political and professional drive already exists to make it work. Butler says that Wales is also big enough to make changes on its own and small enough to introduce changes quickly. “What we are trying to do is play to our strengths,” she says. “We are now starting to see the results of our hard work; patients will see the results of that in more accessible genetic and genomic services – it’s very exciting.”
As a result of new investment, Cardiff and Vale University health board is now recruiting consultant clinical geneticists, clinical scientists, genetic counsellors, bioinformaticians and informaticians. For further information and to apply for any of the roles, visit NHS Jobs.
- Wales Genomics Education and Training Lead - Band 7
- Senior IT Officer - Band 6
- Genomics Information Management and Technology Manager - Band 8a
- Bioinformatician - Band 7
- Bioinformatician Lower - Band 6
- Clinical Scientist Lower / Upper - Band 6 / 7
- Genetic Counsellor - Band 7
- Bioinformatician – Band 7
