Genomic medicine strategy 2024 to 2029

17. Genomic data returns and building a robust evidence base

National data returns

We want to ensure that genomic data can be incorporated into national datasets and registries to support screening, population-based health surveillance and research and, in doing so, develop an evidence base to gauge the impact of genomic testing and the use of genomic information on patient outcomes.

Background

Genomic data has potential diagnostic, prognostic and therapeutic value across a wide range of clinical disciplines. To support its wider adoption and mainstreaming across health and social care systems we need evidence around patient outcomes, and the health economics of specific testing technologies within clinical care pathways.

Where we are now

There is currently no national data return for genomic medicine. This means that patient-level data generated by NHS genetic laboratories cannot, at present, be integrated into national registries or made available for population-based studies. During the COVID-19 pandemic, colleagues within the Pathogen Genomics Service demonstrated the enormous value of integrating data within a secure environment to other key national datasets. In doing so, national organisations such as PHS have been able to use genomic intelligence to inform policy and public health at the local, regional and national level.

Where we want to be

We want to develop a genomic medicine service for the people of Scotland that is data-driven, and will allow us to assess the impact of genomic testing on outcomes for patients, families and the wider population. Such a service will ensure that new testing and technologies are effective and enable the use of genomic data in research and for population-level screening.

A national minimum data set for genomics and integration into PHS as a national data return

We will develop, in conjunction with PHS, a national minimum dataset for genomics that can be linked with the Scottish Cancer Registry and Intelligence Service, the Congenital Conditions and Rare Diseases Registration and Information Service for Scotland (CARDRISS) and other national datasets, including the national Picture Archiving and Communication System (PACS).

The development of this dataset will form part of the development activity supporting the creation of a genomics module within the national LIMS, to ensure that specifications focus not only on individual patient management, but include capacity to support summary data for national returns. This will require a complimentary investment in the specialist data management and analytical knowledge and skills needed to handle this new data. In doing so, we will develop a vital building block that will enable genomic data to be used at a population-level to aid efforts around screening and service audit, to support research and innovation and to ensure the development of a genomic medicine service grounded in a data-driven approach. It is also important that we work closely in collaboration with PHS on the Pathogen Genomic Strategy to ensure that both human and pathogen genomic data can be brought together more effectively and to ensure transparency around the collection and use of race and ethnicity data.

Development of robust outcome measures

We will consider, in conjunction with the SSNGM Patient Involvement Advisory Group and other partners, the use of different outcome measures, focusing on individuals, families and health systems to include qualitative person-centred measures alongside quantitative data returns.

Health economics and evaluation cycles

Evaluating the health economics of new tests, technologies and delivery models within genomic medicine will be an important part of our approach to achieve value for money and allow us to build a robust evidence base for the benefits of genomic medicine and its wider applications. We will develop models for assessment and build evaluation frameworks in collaboration with the Scottish Health Technologies Group (SHTG) and academic partners.

What will this mean for people of Scotland?

Linking genomic data to other registries will be mutually beneficial, and will help provide a comprehensive source of information for genetic conditions in Scotland. This can help inform decisions about priorities for investment and research, allow scientists and clinicians to collaborate more easily, and all of this will help improve the lives of people in Scotland.