The Viking Genes project is working with island communities to advance the future of medicine. Since 2003 they have undertaken four genetics studies that use island health investigations to carry out life-saving research into common diseases.
Professor Jim Wilson grew up in Orkney before reading genetics at the University of Edinburgh. He is now Professor of Human Genetics at the University’s Usher Institute.
He and his team have been studying the genetic make up of Scottish islanders, discovering new insights into the genetic history of the Scottish islands and where their ancestors came from.
In doing so, the team’s research has identified that many of the island populations have their own unique gene pools, revealing that certain disease-causing variants are found more commonly in some island communities than elsewhere in the UK. Armed with this knowledge, the team works carefully to return results to those individuals who have been identified with a higher risk of developing life-threatening conditions, allowing for earlier intervention and preventative surgeries.
“Island communities provide a unique opportunity for gene studies, as within isolated communities there is a smaller gene pool and this can lead to greater prevalence of certain genes, allowing their influence to be assessed.
“This allows us to inform those island residents who have been identified as being at greater risk of developing a life-threatening condition, such as cancer or heart disease. Because of this, several islanders have been treated to remove cancers they didn’t know they had, whilst others have opted for preventative surgery to reduce their risk of developing cancer later in life.
“Many of their family members have also now been tested by the NHS, helping even more people take action against cancer and heart disease.”
Following three highly successful projects, which have led to research breakthroughs and results in diagnosis and treatment of disease, Professor Wilson’s fourth research study launched in the summer of 2022. It was initially made possible by funding from the Medical Research Council and involved recruiting more than 2,000 people into the study who had two or more grandparents from the Hebrides. This data, combined with that of past studies, meant that more than 10,000 participants have now been involved and contributed to the study.
This information is helping to gain a better understanding of genetics and health across the Scottish islands. The studies have already shown significant impact on how we understand certain diseases, such as the link between BRCA2 gene variants and an increased chance of developing breast, ovarian and prostate cancers. The variant is seven times more common in descendants of the island of Whalsay than BRCA1 and BRCA2 gene variants are in the UK mainland population.
"It’s simply not true that everybody is the same as one another. It’s actually important where you come from."
Understanding the risks that certain genes raise means that more effective testing can be done to help those individuals with a higher risk. Professor Wilson explains that “just two gene variants account for nearly all (>90%) of the inherited cancer risk from BRCA variants in Orkney and Shetland. This is in stark contrast to the situation in the general UK population, where 369 variants would need to be tested to account for the same proportion of cancer risk from BRCA genes. Any future screening programme for the Northern Isles should therefore be very cost-effective.”
Understanding this risk means that, in the future, people with a Whalsay-born grandparent may be able to request a referral to a local genetics centre and be offered increased screening.
For Christine, a native Shetlander, learning in 2023 that she carried the Whalsay BRCA2 variant led to a mammogram, where she discovered she had breast cancer. Christine went on to have her ovaries removed and a double mastectomy as prevention, and received the all-clear in March 2024.
She is thankful for the research and insight into her genes. “I am so grateful you told me I have BRCA2, as my next mammogram would have been in another two years and it might have been a different story!”
"We will never be certain, but it is possible that taking part in this survey has saved our lives."
Ingrid’s family is also from Shetland and she was a volunteer in the Viking Genes study. Some years after taking part, her GP contacted her after receiving notification of a potentially rare genetic variant from the study. Ingrid underwent testing and it revealed that she had Long QT, an inherited heart problem, which can be very difficult to spot using standard medical tests.
Through genetic testing she has since discovered that her father and daughter carry the same variant. She and her daughter now have regular check-ups and neither have any symptoms.
She credits the study with changing her life: “We will never be certain, but it is possible that taking part in this survey has saved our lives. Long QT is the type of condition that you don’t often find out you have until it is too late.”
Professor Wilson hopes that by returning actionable findings such as BRCA and Long QT to the volunteers, and identifying heightened genetic risks in the Scottish islands, they will act as exemplars for later deployment on a national scale, to help realise the full impact of genomics on medicine.
The Viking Genes project is working with the University of Edinburgh to help secure its future, and the University has recently launched the Viking Genes Fund, seeking financial support for this incredible work.
Future research hopes to investigate high cholesterol, cardiomyopathy, haemochromatosis, Wilson disease, Pompe disease, Batten disease, and island-specific multiple sclerosis variants, but Professor Wilson lays out the difficulties:
“This type of work to improve population health is typically not funded by academic research grants, and we are asking for your community’s help and support in order to continue our work.”
“We are seeking funding to support the small team of researchers and part-time support staff that I have and who have done great work on this project with a limited budget.
“Any donations or funding will be used to enable analysis of the Viking Genes data and then prepare our materials to communicate our findings to the different audiences.”
The Viking Genes Fund
The Viking Genes research has been funded by research grants for 20 years, allowing them to return actionable findings to participants, enabling them to take quick preventable action against breast and ovarian cancer risks.
The research dataset is rich with information, and the next step is to fully analyse this, hopefully leading to findings about many life-threatening diseases. Unfortunately this type of work, to improve population health, is typically not funded by academic research grants and so the University is working with Viking Genes to help fundraise for this life saving research. Find out more about the project:
This article also appears in the summer 2004 edition of the Your Impact newsletter, featuring stories about alumni and supporter-funded projects from around the University:
All opinions expressed are those of the individuals being quoted and do not necessarily reflect those of the University of Edinburgh.