SGP legacy is Scottish Government funding for a new NHS Scotland genetic diagnostic service

"It was fascinating to learn more about how the research is having a real impact on genomic medicine advances in Scotland. With £4 million of funding through SGP, the Scottish Government is supporting evaluation of new genomic testing approaches for rare diseases along with the development of infrastructure for the sharing of genomic data."

Jeane Freeman, MSP, Cabinet Secretary for Health and Sport

7th November 2019

Cabinet Secretary, Jeane Freeman MSP, visits the MRC Human Genetics Unit

The Medical Research Council (MRC) Human Genetics Unit at The University of Edinburgh welcomed Jeane Freeman MSP, Cabinet Secretary for Health and Sport for the Scottish Government, when she visited to learn about its exciting collaboration with the NHS to improve diagnoses for people in Scotland with genetic disorders.

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

Discussion focussed on a new partnership between the MRC Human Genetics Unit and the NHS Scotland Clinical Genetics Service which, in collaboration with the Genomic Data Analysis Centre, have recently launched a new genetic diagnostic service for families whose child has a rare developmental disorder.

The Minister heard from Professor David FitzPatrick (Professor and Consultant in Paediatric Genetics, MRC Human Genetics Unit) who explained that through the new service, doctors refer the patient and their family to the NHS Clinical Genetics Service, which can extract DNA from the patient and their parents in order to sequence and compare the gene coding regions (“exomes”) at Edinburgh Genomics. The resulting data is transferred to the Edinburgh Parallel Computing Centre to be analysed by the Genomic Data Analysis Centre led by Dr Alison Meynert (SGP bioinformatics lead, inherited diseases).

The analysis by Alison’s team 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. If found to be relevant, the Service returns a diagnostic report for the doctor to discuss with the patient and their family, helping them understand their diagnosis and its genetic cause. The Cabinet Secretary heard about the enormous positive impact that such a diagnosis can have for each family, whether or not there is a treatment available.

Cabinet Secretary, Jean Freeman MSP, talks to researchers at the MRC Human Genetics Unit

Dr Meynert explained that in the future, the genetic variant data 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 is 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 don’t receive a diagnosis on the first attempt can have their data reanalysed once more information from other research and families around the world 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. Being able to study such data will allow researchers, such as those 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.

© 2020 Scottish Genomes Partnership

Scottish Genomes Partnership gratefully acknowledges the funding received from the Chief Scientist Office of the Scottish Government Health Directorates and the Medical Research Council Whole Genome Sequencing for Health and Wealth Initiative.