The Regeneron Genetics Center - a world-leading organization studying genetic causes of and interventions for disease - has agreed to use their facilities and expertise to exome sequence the DNA of Viking Genes volunteers. Learn more about what that means here. What's whole exome sequencing? Image The exome is the part of our DNA (genome) that codes for proteins, the workhorses of the cell. This is about 2% of all the DNA we have, but it’s the most important part. Exomes are the most studied and understood part of the genome, where many genetic variants influencing a person’s chance of getting a condition are found. Whole exome sequencing tells researchers which variants are found within each person’s exome. We sent DNA samples to the Regeneron Genetics Center for exome sequencing in September 2023. This has been made possible thanks to funding from the MRC. Our lab worked hard to get the DNA from our many thousands of volunteers’ saliva samples. This was completed more quickly thanks to three new automated DNA extraction platforms they recently received. Why are you whole exome sequencing volunteer samples? Understanding exomes is very useful for the research we do in VIKING Genes. It makes it possible for us to study a wide variety of variants. This includes rare variants that only a few people carry, some of which will never have been seen before. We'll use the information to develop our understanding of common complex diseases, such as cancer, heart disease, stroke and eye disease. Rare variants found in exomes also play an important role in some rare genetic conditions. We will also analyse these. I am excited to continue our collaboration with Prof Alan Shuldiner and the Regeneron Genetics Center, as part of their DRIFT programme (Discovery Research Investigating Founder Population Traits). We are joining forces to read the DNA in all the genes in our volunteers and thus discover the rare genetic variants that are special to Orkney and Shetland. The contribution by the Regeneron Genetics Center, to the collaboration, would usually cost millions of pounds. By working with one of the world's largest human genomics projects, we can accelerate the discovery of new drugs. Professor Jim WilsonChief Investigator - Viking Genes What is the Regeneron Genetics Center? Image The Regeneron Genetics Center® (RGC) is one of the world’s largest human genomic research efforts. RGC is a wholly owned subsidiary of Regeneron, a leading biotechnology company with a number of locations around the world. The Regeneron Genetics Center has the technology and capabilities to sequence the exomes of our volunteers and has received the relevant approvals to complete this sequencing on our behalf. If you'd like to learn more about who they are and what they do, you can visit their website below: Regeneron Genetics Center What does this mean for me? This new development does not change anything for our volunteers. Your data and samples are still being held under the strict data privacy policies we have in place. If you would like to read more about how we protect your information, please read our privacy notice below: Privacy Notice Image Will any results be returned to me? Return of genetic results is voluntary. When you joined Viking Genes, you had the choice about whether or not you would like to have results returned. If you change your mind at any point, you can email us to update your choice. It will still be some time before our team receives the exome sequence data from the Regeneron Genetics Center. The data then need to be analysed, which can also take months. You may not receive any feedback, because only those with ‘actionable’ genetic findings will hear from us. We estimate that only 2% of volunteers will have an actionable genetic finding. New research means that findings could continue to be made well into the future. We will try to continue to return results for as long as possible. If I do receive results, what happens then? Any potentially important findings will be discussed with the NHS Clinical Genetics Service in Aberdeen. In the event that we do find an 'actionable' genetic result in your DNA, we’ll introduce you to an NHS genetics expert. They’ll invite you to provide a sample of blood to confirm the initial research analysis was accurate. An NHS genetics expert will provide you with your results and they’ll discuss what it means for you. The future We're very excited to be working with Regeneron. The sooner we get the whole exome sequencing data for our volunteers, the sooner we can carry out vital research into the genetics of common and rare diseases. We will continue to keep you updated on the developments of this new partnership. If you have any questions about this, please feel free to email us at viking@ed.ac.uk. This article was published on 2024-01-25
