Clinical Genomes Scotland - Meeting Report

Over 250 academics, clinicians, healthcare specialists, patients, and industry representatives gathered on the 7^th September at the Royal College of Physicians of Edinburgh to attend the 2026 “Clinical Genomes Scotland” meeting. This meeting was supported by the University of Edinburgh’s One Health Genomics initiative and was organised by representatives of the Universities of Aberdeen, Edinburgh and Glasgow, as well as NHS Lothian, NHS Grampian and NHS Greater Glasgow and Clyde (GGC). The aim of the meeting was to reflect upon recent advances in genomic technology and how it can be used to advance genomics provision for patients with rare diseases or cancer in Scotland. 

Session 1 focussed on rare disease genomics and began with a talk from Eve Miller-Hodges (University of Edinburgh, NHS Lothian) on current obstacles on using genomics for diagnosis in inherited metabolic disorders, and how access to whole exome and genome sequencing (WES, WGS) are crucial when dealing with rare clinical presentations and uncertain diagnoses. Zosia Miedzybrodzka (University of Aberdeen, NHS Grampian) followed with a specific example of how sequencing of the exome of the patient and their parents had aided diagnosis of rare form of polycystic kidney disease caused by a de novo mutation, highlighting the value of exome sequencing of the patient and their family members. This was followed by Helen Firth (Cambridge University Hospitals/University of Cambridge) who explained that a “genomic diagnosis was a launchpad to personalised care” and indicated what excellence in genomic medicine could look like. Pleasantine Mill (University of Edinburgh) concluded the first session by showing how WGS can be used in the diagnosis and understanding of the rare respiratory disease Primary Ciliary Dyskinesia.

Ellen Thomas (Genomics England) gave a keynote presentation on how Genomics England is supporting the NHS Genomic Medicine Service in England; predicting that “by 2035 genomics could play a role in up to half of all healthcare interactions”. Patricia Roxburgh (University of Glasgow, NHS GGC) gave an overview of the current genomic capabilities for cancer diagnosis and care in Scotland, but emphasised the current limitations compared with what is available in England and elsewhere in Europe, including in countries of a similar size to Scotland. Mike Hubank (Institute of Cancer Research) then discussed current use of genomics for both diagnostics and discovery at the North Thames Genomic Laboratory Hub and Royal Marsden Hospital, including advances in using circulating tumour DNA (ctDNA).

A highlight of the day came in Session 3 from Sophie Dow, parent of Annie (who has a rare disease), who poignantly told of the personal and emotional impact on families that receiving a genomic diagnosis can have. She described her remarkable work in founding the Salvesen Mindroom Centre to recognise the journey with her daughter Annie and highlighting why this widely valued initiative has become so important for patients with a rare disease – and their families.

Sir Munir Pirmohamed (University of Liverpool) gave an insightful keynote presentation on pharmacogenomics and personalised medicine. Showing that we can move beyond “one drug fits all” ethos by harnessing genomic technology to improve efficacy of drug treatment and reduce the frequency of drug side effects. Ultan McDermott (AstraZeneca) and Ian Simpson (University of Edinburgh) concluded the day’s talks with exciting presentations on the use of Artificial Intelligence in interpreting large amounts of genomic data – highlighting the interpretation of large amounts of multimodal data as a key benefit.

Sponsored talks throughout the day by genomic technology providers (Congenica, Illumina, Element, Oxford Nanopore Technologies, Ultima Genomics) highlighted how rapidly technology supporting genomic sequencing and interpretation is advancing. A PacBio sponsored talk by Christian Gilissen (Radboud umc) further highlighted how these technologies can be utilised in a healthcare setting. 

The day concluded with a lively panel discussion chaired by Professor Kenny Baillie (University of Edinburgh), on the topic of “Harnessing the Clinical Genome – bringing Scotland up to speed”. Panellists included Jonathan Berg (University of Dundee, NHS Tayside), Natalie Frankish (Genetic Alliance), Charlie Gourley (University of Edinburgh), Sir Munir Pirmohamed (University of Liverpool), Ellen Thomas (Genomics England) and Paul Westwood (University of Glasgow). Extensive audience interaction highlighted gaps in current provision, exciting future opportunities, and the hurdles that need to be overcome in order to take advantage for the Scottish NHS and patients in Scotland.

The meeting highlighted that the significant advances in genomic medicine over recent years can have real impact on the care of those with rare disease and cancer. It was clear, however, that the current provision in Scotland lags behind other home nations and there remain several infrastructural and organisational obstacles to implementing change. There was however strong, shared support for growing genomics services in Scotland, utilising cutting edge genome knowledge and technologies to deliver precision healthcare that matches and aims to exceed the best in the UK and beyond. We hope the Clinical Genomes Scotland meeting has set out both the need and solutions within reach and will act as a catalyst for multisector collaboration to achieve world leading genomic research, innovation and healthcare in Scotland.