Scotland’s Genomic Medicine Strategy 2024-2029 highlights need for “secure, scalable digital infrastructure”

The Scottish Government has published Scotland’s Genomic Medicine Strategy 2024-2029, highlighting plans to develop a genomic medicine service “based on the principles of person-centred care” and better enabling the use of genomic information to support disease prevention and early detection, along with the need for national digital infrastructure.

A number of strategic aims are shared, including the development of collaborative, multi-disciplinary genomic testing services focused around diagnostics, research, innovation, horizon scanning and funding processes; the Scottish government says that this will “ensure the timely implementation of new genomic tests and technologies to help improve our understanding of disease and support clinical decision making”.

Other aims include implementing and expanding a variety of technologies; ensuring that genomic data is within scope for wider work within the national digital strategy; building a “secure, scalable digital infrastructure” to allow analysis and storage of large-scale genomic data; developing genomics data storage and sharing solutions; and developing a long-term genomics data and IT ecosystem that aligns with partners.

Included within the strategy is a section dedicated to data and digital infrastructure, where the Scottish government states that developing national solutions for genomics data management, storage and analysis, along with implementing associated infrastructure, is “the biggest challenge faced by genomic medicine in Scotland, and one that underpins our ability to deliver on almost every one of our strategic aims.” There is “urgent need” for national-level storage and services capable of supporting high volume data and analysis, the Scottish government states, highlighting aspirations for data to be used across all health boards, laboratories and academic centres to support coordinated care.

In terms on ongoing work, a pilot project within the National Digital Platform MediaStore is in development with the aim of testing transfer of genomic data between laboratories. This work has “intersected” with a wider project exploring data standardisation across the genomic laboratories, forming “part of the groundwork for the national Laboratory Information Management System currently under development.” On this, the strategy explains that a consortium of health boards have commissioned a national LIMS and are in the process of developing a bespoke genomics module “with input across the genomics laboratories, and in collaboration with pathology laboratories.”

Regarding future plans, the Scottish government pledges to continue supporting work to standardise data generated across genomic laboratories and states that it will work with the National Data Standards Board and in alignment with international data standards to support data sharing across the UK and beyond.

Other plans include identifying solutions for known technical challenges around the need for high-capacity networks, to support data transfer and large-volume data storage capability; exploring the need for a “Scottish NHS variant repository” to help identify medically-significant variants; and conducting an options appraisal to scope requirements, delivery timescales and potential for integration of a “high-performance computing environment” that will “employ different software solutions for data analysis”. This is “needed as a matter of urgency”, the Scottish government acknowledges, “and may need to involve commercial applications or novel solutions such as AI/machine learning interacting with, or alongside the NDP structure.”

The plan also highlights the “pressing need to consider access to genomic diagnostic reports and interpretation”, with the strategy calling for a system-wide approach to make diagnostic information securely accessible.

On data interoperability, the strategy notes the existence of Scotland’s Community Health Index (CHI) and shares that a technical change programme is underway to revise the CHI and make it “more flexible and functional across the wider health and social care system”. It raises the need for CHI-linked genomic data that can “support the gathering of intelligence and translation into datasets for research and integration with other sources of data to allow real world evidence studies of the value of different genomic technologies and tests across Scotland.”

The need to address inequalities within data systems is also noted, with acknowledgement of the “known lack of diversity within genomic data and variant repositories” as well as “structural biases within many new tools and technologies”. The Scottish government pledges to work with the Anti-Racism Observatory to ensure that the infrastructure and processes developed as part of this work “do not perpetuate racialised system inequity”, and to ensure clear guidelines on how race and ethnicity data is collected and used.

The strategy goes on to share plans for the capturing of data on genomic medicine service processes and clinical outcomes, to assess research, effectiveness, adoption, implementation and maintenance; click here to read more.

The strategy can be found in full here.

Also on genomics, we highlighted discussion on the need to accelerate genomics research from NHS England’s October 2023 board meeting.

In other news from Scotland, we explored the latest learning and education strategy from NHS Education for Scotland, which shares a number of plans with a digital focus including updating its digital platform and holding a review of existing data architecture.