Thank you, Deputy Presiding Officer.

On 12 April this year, I published the genomics for precision medicine strategy consultation. The strategy outlines our plan to harness new genomics technologies to improve the health and prosperity of the people of Wales. Through the strategy, we want people across Wales to have access to quicker, more accurate diagnosis and better information to support treatment decisions. We also want to apply the latest techniques for improved disease prediction and gain a better understanding of disease outbreaks.

New genetic and genomic technologies are allowing us to develop a much more detailed understanding of the link between our genes and our health. Traditional laboratory genetic tests apply sequencing methods that analyse a single gene or part of a gene to identify DNA changes that cause illnesses. However, the recent emergence of newer, next-generation sequencing techniques has enabled the study of tens, hundreds or thousands of genes, or even the whole of a person’s DNA, or genome, at the same time. Parallel developments in IT, data storage, sharing and analytics have enabled us to scrutinise, observe and analyse the vast amount of information that is generated by this type of sequencing. The pace of change in this area is rapid and the cost of genomic technologies continues to fall. The strategy provides a basis for us to capture the health and economic benefits of these technologies for the people of Wales.

The new genetic and genomic technologies are playing an increasing role in the delivery of modern medicine. They are having an impact on a wider number of clinical specialties, enabling clinicians to better understand a patient’s individual disease and provide more accurate and timely diagnoses. They are also enablers for precision medicine: the development of targeted treatments for individuals, rather than the population as a whole. For example, our understanding of the genetic basis of cancer now supports the provision of targeted therapies to patients. In lung cancer, for example, four genetic markers have been identified, and these allow clinicians to give the treatments most likely to stop the growth of tumours, shrink them and lengthen quality and duration of life. As there are frequently multiple genetic markers for each disease, it is more cost efficient and quicker to test for all, or several, genes at the same time. Through the strategy, funding will be provided for the NHS all-Wales medical genetics service to deliver gene panel analysis to look at multiple targets for lung cancer simultaneously. This will allow clinicians to make better decisions about treatment options and also allow patients to take part in innovative clinical trials.

In rare diseases, genetic and genomic technologies are enabling quicker and more accurate diagnoses. Most rare diseases have a genetic basis, but it often takes a long time for patients to receive a diagnosis, if they do at all. And that leaves patients and their families with little information about the risks for their family and the options for treatment or the management of their condition. What’s more, in complex conditions like some intellectual disabilities, over 1,000 genes are involved. The ability to analyse a greater number of genes simultaneously will mean that more patients with rare diseases and intellectual disability will have access to the most up-to-date technologies for a quicker, more accurate diagnosis.

The strategy, though, is not just about pushing more DNA through sequencers and crunching data. It’s also about co-production of services that will support the public, or patient, in accessing the most accurate test in a timely manner. And, importantly, it’s about what happens next, once we get the result that may affect not just our future selves, but also the future of others close to us. The very nature of genes and DNA means that our problem can be passed on to our loved ones. Genetic counsellors and other medical professionals work tirelessly at the interface of genomics and the human condition, to clarify the impact that this knowledge may have on our health, well-being and the support that we may need.

It is clear that patient benefits in this field will not be delivered by the NHS in isolation. Links to research and industry activities are more important than ever, and the wider ecosystem for genomics must be aligned to maximise health and economic benefits for Wales. In addition to developing new services for patients in Wales, the strategy outlines actions to develop research in genetics and genomics, to grow knowledge and skills amongst the NHS and non-NHS workforce, and to build precision strategic partnerships in genomics for precision medicine. In this highly competitive and rapidly expanding field, it is important that Wales is able to work together with partners on an international stage, as this attracts additional funding, supports the development of the skills base in Wales, and underpins the faster adoption of new treatments for patient benefit.

With Welsh Government support, Wales is joining the 100,000 Genomes project through partnership with Genomics England. This will enable Welsh patients with specific rare diseases to take part in a large, cutting-edge research project, with the potential to receive quicker and more accurate diagnoses that may come from whole genome sequencing. The project has attracted £1 million in funding from the Medical Research Council, allied to £2.3 million of Welsh Government funding, and is supporting high-quality jobs and bringing additional economic benefits here to Wales.

The genomics for precision medicine strategy was developed by the genomics taskforce, built upon close working between colleagues in the Welsh Government, the NHS, the third sector and higher education institutions. The taskforce has worked hard to consult throughout the process, and to ensure that as many stakeholders as possible have been able to have their say in the development of the strategy. The strategy now focuses on developing genomics capabilities, because these technologies are becoming increasingly affordable and having a positive impact on precision medicine and the management of infectious diseases.

Investment in genomics alone, though, will not be sufficient to deliver precision medicine. Other technologies such as imaging, molecular studies, real-time monitoring of illness and data analytics all play an important role, alongside traditional clinical methods of assessing an individual’s disease. These diagnostics, of course, need to be integrated with the development of new targeted therapeutics, involving advanced therapeutics arising from cell and gene therapy approaches.

It is clear that the challenges ahead are great, as they are in many other areas of medicine and the health service. Further partnership will, of course, be necessary to make precision medicine routine practice in our national health service. But this genomics for precision medicine strategy underpins what should be a bright future to capture the health and economic benefits of genomics technologies within Wales.