Cabinet Secretary Jeane Freeman MSP visits the MRC Human Genetics Unit

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The Cabinet Secretary visited the Unit to see first-hand the research space, facilities and affiliated NHS laboratories which underpin its research and to learn about its exciting collaboration with the NHS to improve diagnoses for people in Scotland with genetic disorders.

Welcomed by Director of the Unit Professor Wendy Bickmore and Vice-Principal for Strategic Change and Governance and University Secretary Ms Sarah Smith, the Cabinet Secretary enjoyed a comprehensive tour which demonstrated the breadth of the Unit’s scientific research – from individual cells to whole genomes and populations.

The Cabinet Secretary was particularly interested in the current status and future direction of genetic testing for NHS patients in Scotland and her visit was centred around informative dialogue with leaders from NHS NSS National Services Division, NHS Education for Scotland Digital Service, the Scottish Genomes Partnership and the University’s College of Science & Engineering.

Discussion was focussed on the Unit’s partnership with the NHS Clinical Genetics Service which, in collaboration with the Genomic Data Analysis Centre, recently launched a new genetic diagnostic service for families whose child has a rare developmental disorder.

Through the new service, doctors refer their patient and their family to the NHS Clinical Genetics Service, which takes blood samples from the patient and their parents. DNA is extracted from the blood samples and the gene coding regions of all three family members are sequenced at Edinburgh Genomics. The resulting data is transferred to the Edinburgh Parallel Computing Centre to be analysed by the Genomic Data Analysis Centre at the MRC Human Genetics Unit. The analysis produces a list of genetic variants – alterations which could potentially cause genetic disease – which are sent back to the NHS Clinical Genetics Service for assessment and confirmation. The NHS Clinical Genetics Service then returns a diagnostic report for the doctor to discuss with the patient and their family, helping them understand their diagnosis and its genetic cause.

What will happen in the near future, and what was discussed during the Cabinet Secretary’s visit, is that the data of the genetic variants in gene coding regions which are found for each family – some 30,000 – will be stored in a safe and secure data repository inside the new National Digital Platform which is being created by NHS Education for Scotland Digital Service. This part of the project will be supported by funding from the MRC Human Genetics Unit and the Edinburgh and South East Scotland City Region Deal.

This innovative next step means that families who didn’t successfully receive a diagnosis on the first attempt can have their data reanalyzed once more information from other families becomes available. It also means that, for the first time, genetic data from across the Scottish population will be gathered in one place, allowing scientists to identify where genetic variations – and therefore potential causes of disease – are unique to or more common in Scotland, providing valuable insight for healthcare professionals across the country. What’s more, being able to study this data will allow researchers at the MRC Human Genetics Unit to discover new genetic causes of disease, potentially leading to more targeted and effective treatments.

This crucial partnership between government, university and healthcare system and the pioneering developments in data infrastructure and analysis will unlock the huge potential that patient data holds for progressing medical research into genetic disease. Not only will this create efficiencies for our health service and enhance experiences for patients, but it will ultimately improve the quality and delivery of health and social care for people across Scotland.

It was fascinating to learn more from Professor Bickmore about the Human Genetics Unit at the University of Edinburgh and how the research taking place is having a real impact on genomic medicine advances in Scotland. With £4 million of funding, the Scottish Government is supporting the evaluation of new genomic testing approaches for rare diseases along with the development of infrastructure for the sharing of genomic data across Scotland’s four NHS genetics centres. As a result, this will facilitate more efficient patient diagnosis.

Jeane Freeman

We were delighted to welcome the Cabinet Secretary to the University and share some of the important work undertaken by the MRC Human Genetics Unit.  This work can make such a difference to families and children with severe developmental disorders.

Sarah Smith