Scotland study aims to offer precise diagnoses for people with rare genetic diseases

People in Scotland with rare genetic diseases are set to benefit from a DNA study that seeks to improve their diagnoses and treatments.

The study – launched by the Scottish Genomes Partnership in collaboration with Genomics England – will analyze the entire genetic make-up of 330 people with rare diseases and members of their family.

Using advanced computing to link genetic data with patients’ health information, scientists hope to pinpoint differences in their DNA code that may be responsible for their condition.

The research aims to offer more precise diagnoses for patients and explore how whole genome sequencing technology could be used in clinical practice to improve treatment and management of the diseases.

Participants will be identified by NHS Scotland Genetics Clinics and invited to take part in the research along with members of their close family.

A total of 1,000 people will have their genome sequenced for the research, which will contribute to the 100,000 Genomes Project, a flagship project to advance clinical care through genome research.

Around 3.5 million people in the UK are living with a rare disease caused by a faulty gene, such as muscular dystrophies, rare forms of intellectual disability and rare inherited neurological problems. Although each disease affects fewer than one in 2,000 people in the population, there are between 6,000 and 8,000 known conditions which are often chronic and life-threatening. Doctors are describing new disorders every day but many people still do not receive an accurate diagnosis for their condition.

The study will take advantage of cutting-edge whole genome sequencing technology at the Universities of Edinburgh and Glasgow, advanced computing facilities at the University of Edinburgh and analytical expertise at Genomics England.

Health Secretary Shona Robison said:

I am pleased that the Scottish Government is supporting this initiative together with the Medical Research Council.  The launch of this study is a significant milestone towards embedding use of this cutting-edge technology by NHS Scotland to benefit patients with rare genetic diseases.

Professor Tim Aitman, Co-Chair of the Scottish Genomes Partnership and Director of the University of Edinburgh’s Centre for Genomic and Experimental Medicine, said:

Genomics has come a very long way since the publication of the first human genome in 2001. This collaboration enables the investment made by the Universities of Edinburgh and Glasgow in the latest genome sequencing technology to make a direct and immediate impact on the healthcare of patients in Scotland. We look forward to working on this ground-breaking project with our partners in NHS Scotland and Genomics England.

Professor Zosia Miedzybrodzka, Professor of Medical Genetics at the University of Aberdeen and NHS Grampian, and Chief Investigator of the study said:

The clinicians and scientists delivering NHS Scotland Genetics Services are delighted that patients in Scotland with undiagnosed genetic conditions will have this opportunity to benefit from finding out the cause of their health problem.

Dr Marion Bain, Medical Director of NHS National Services Scotland said:

Cutting edge techniques and equipment mean that it is now possible to sequence an individual’s genome in a matter of days. As the cost of sequencing comes down, new analytical techniques are developed and our knowledge in this area grows, there is huge potential to develop more effective and cost-effective diagnostic and treatment services.

Professor Mark Caulfield, Chief Scientist at Genomics England said:

I am delighted that patients living in Scotland will have the opportunity to benefit from genomic medicine by taking part in the 100,000 Genomes Project. Our aim is to bring new diagnoses for patients with rare disease and enable better treatments for patients across the UK.

Alastair Kent, Genetic Alliance UK said:

Whole genome sequencing has become an invaluable route for patients and families to be able to receive an accurate and timely diagnosis of their condition. The 100,000 Genomes Project has helped many families in England to understand their situation and plan for what awaits them. The development of the Scottish Genomes Partnership, and the linkage with Genomics England is very good news for Scottish families and for the whole rare disease community across the UK. We look forward to a long and productive collaboration that will boost research and bring exciting possibilities for patient benefit closer to being realized.

The Scottish Genomes Partnership is a collaboration between the Universities of Edinburgh, Aberdeen and Glasgow, four regional Clinical Genetics Units and four Genetic laboratories commissioned by NHS National Services Scotland. It is funded by the Scottish Government and the Medical Research Council.