The Scottish government has today published its first ever genomic medicine strategy, with a focus on how innovative new methods of diagnosis and treatment can help people at risk of cancer and rare conditions as a result of their genetics.

Set to expand access to genomic testing to improve diagnoses and outcomes for patients, the five-year ‘Building our Future’ strategy marks a step towards disease prevention and early detection.

The strategy aims to improve clinical pathways and better join-up services, so people can gain quicker access to the right tests and treatments.

The strategy highlights the current challenges in Scotland, with some key diagnostic tests for specific types of cancers and rare diseases not currently available in the NHS, despite them being a pre-requisite for patients to be able to receive innovative new treatment.

Almost two years ago the Scottish Precision Medicines Industry Group called for a step change in how NHS Scotland commissions genomic testing for cancer to tackle inequitable access.

The government will now look to fill these gaps and introduce a more robust system, working with academics and industry to plan ahead to ensure these are available to patients as quickly as possible.

The strategy has also laid out plans to expand genomic testing, with a particular focus on helping healthcare staff deliver testing to expectant parents and newborn babies.

The government has committed to work with its UK counterparts in the National Screening Committee to explore the expansion of screening for conditions that are currently not offered.

However, some have not been yet introduced, with delays to newborn genomic screening for spinal muscular atrophy criticised as “nonsensical” as calls come for the government to honour its commitment. 

In the 65-page strategy, the government says its approach has been ‘guided by the principles of precision medicine and the need to ensure that genomic technologies support improved diagnosis and access to care’.

Scotland’s Chief Scientist for Health, Professor Dame Anna Dominiczak, said:

“It presents opportunities to adopt transformative innovations at scale to the NHS, improve care for patients and communities, create high value jobs and economic growth for Scotland.

“Genomics is an important component of precision medicine and, as emphasised in this strategy, we realise the full potential of precision medicine only through the integration of laboratory and healthcare data into clinical decision making, and close collaboration across clinicians, scientists, patients, healthcare providers and industry.”

Encouraging collaboration and research between the NHS, academia and industry, in what is known as the ‘triple helix’, will underpin delivery of the strategy’s key aims.

The government says healthcare professionals will be supported to make more tailored decisions when treating cancers, by using a patient’s genetic make-up to understand which treatments they may respond best to.

While already used across some NHS boards, this is the first strategy to create a coordinated approach for genomic medicine across Scotland.

Scotland’s Cabinet Secretary for NHS Recovery, Health and Social Care, Neil Gray, said:

“This new strategy marks the first step towards developing a world class genomic medicine service in Scotland that is agile enough to grasp the opportunities presented by this exciting and fast-growing discipline.

“Embracing new technology is a major part of our plans to reform and recover Scotland’s NHS and a co-ordinated approach to this innovation will improve the care provided by our health service.”

The new strategy aims to support staff with training, clear career paths and opportunities for research development.

This comes after £46.3m genome research funding was announced for 2023-2028, supporting University of Edinburgh researchers to uncover the role of DNA in disease development.

Neil Gray says genomic medicine and technology will be key to transitioning to more efficient services and care across Scotland, including the deployment of staff and equipment, adding:

“Most importantly, it will support better diagnosis and access to the right treatment by ensuring access to the right tests at the right time. That will ultimately mean people having better outcomes.”

Read more: New treatment for rare genetic condition approved; Chief Scientist calls for more research volunteers; Scots women at the forefront of medical sciences; Auditor General: Difficult choices for Scotland's NHS; Biomarkers can improve melanoma patient care; Rapid cancer diagnostic network improves outcomes

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