Genomics in Scotland: Building our Future

Diagnosis and Precision Medicine

Genome UK Vision: we will help people live longer, healthier lives by using new genomic technologies to routinely identify the genetic determinants of rare diseases, infectious diseases and cancer. We will detect cancers earlier, and we will provide personalised treatments to illness.

Using genomic technologies, we can predict ill health and help to provide better diagnosis and treatment through the use of precision medicine to support people to live longer and healthier lives. The genomic medicine landscape is developing rapidly. In the last five years, we have seen the implementation of impactful genetic testing for a variety of conditions which has helped inform patient treatment, allowing patients to receive the right treatment at the right time. Pathogen genomics is also helping to deliver ‘precision public health’ by guiding investigations of infection outbreaks, antimicrobial stewardship, better-targeted disease control and infection surveillance.

In December 2022, we published Scotland’s Rare Disease Action Plan,^[iii] aligned to both the UK Rare Disease Framework^[iv] and Genome UK. Around 80% of rare diseases are currently understood to have a genetic origin, and genomic healthcare provides a significant opportunity to shorten the ‘diagnostic odyssey’ for individuals living with these conditions. Our Genomic Strategy will align to our Rare Disease Action Plan and we will engage with the Rare Disease Implementation Board as well as key rare disease organisations like Genetic Alliance UK to ensure our Strategy is informed by those who will benefit most.

We expect that the next five years will see considerable growth in cancer genomics, at a time when cancer care in Scotland is continuing to recover from the impact of Covid-19. Our cancer genomics expansion will support the testing required to help patients benefit from targeted treatments and ensure that patients do not receive treatments where there are no clinical benefits and avoid unnecessary side effects. By building genomics into the cancer pathway, we hope to be able to detect relapses earlier and more effectively, and consider the screening implications for patients and their families.

Pharmacogenomics (the study of genetics in relation to medicine, and the influence of genes on an individual’s response to medicines) is also an enabler for precision medicine. The introduction of pharmacogenomics into routine practice has the potential to transform the use of medicines with pharmacy services and we are already looking to the future and building on a growing evidence base through pharmacogenomic research programmes at the Universities of Glasgow and Dundee.

To support our approach to diagnosis and precision medicine, we will need to;

• Support the development of, and ensure alignment between Scotland's Genomics Strategy, Rare Disease Action Plan and the new Cancer Strategy.
• Expand our genomic cancer tests to ensure clinicians have timely access to better diagnostic, prognostic and potential therapeutic information for their cancer patients, resulting in better outcomes.
• Seek to develop capabilities to enable greater use of genomic testing results to support opportunities for patients to enter genome-directed clinical trials of treatments for both cancer and rare diseases, recognising the benefits that this research can bring to individual patients and the NHS.
• Work with the Rare Disease Implementation Board for Scotland to improve diagnostic pathways for those living with rare conditions.
• Consider investment in infrastructure and leadership (as part of the wider Precision Medicine portfolio) for pharmacogenomics, pharmacy services and for the wider multidisciplinary team, as laboratory and digital capabilities are crucial in the provision of services.
• Better understand the future opportunities for Advanced Therapeutic Medicinal Products (ATMPs), recognising that there are wide-ranging implications and challenges for their managed introduction.
• Work with the SSNGM to promote a harmonised and multidisciplinary approach to the roll out of pharmacogenomics across Scotland.
• Consider the requirements for future services, and if necessary, the scope for increasing capacity for Whole Exome Sequencing (WES) and/or Whole Genome Sequencing (WGS).