A landmark charity-funded project will offer genetic testing to thousands of people with ancestral links to Westray in Orkney and Whalsay in Shetland, helping identify those who have a higher inherited risk of developing certain cancers.
Eight charities are funding the two-year project, which will cost more than £365,000. It will offer testing for the specific BRCA gene variants which are more common in people with Westray and Whalsay ancestry.
The project will be funded by a unique partnership of NHS charities across Scotland and Friends of ANCHOR, a cancer and haematology charity based in North-east Scotland.
Friends of ANCHOR is contributing £137,000 towards the programme in the Northern Isles, with NHS Grampian Charity, NHS Orkney Endowment Fund, NHS Shetland Endowment Fund, NHS Highland Charity, NHS Tayside Charitable Foundation, NHS Lothian Charity, and NHS Greater Glasgow & Clyde Healthcare Charity covering the remainder
It is the first time NHS charities have come together to fund a Scotland-wide project. Each charity will fund the costs associated with its own geographic region. Friends of ANCHOR, which is based in the North-east of Scotland, will fund costs associated with the roll-out in Orkney and Shetland.
It is anticipated that around 5,000 tests will be carried out across the Orkney, Shetland, Grampian, Highland, Tayside, Lothian, and Greater Glasgow & Clyde NHS areas. The screening involves a simple saliva test and will be available to people who may not otherwise have known they were at an increased risk.
There are more than 3,000 variants known in the BRCA1 and BRCA2 genes which can cause an increased chance of cancer. Around one in 1,000 women across the UK have a BRCA1 variant, giving them a higher lifetime chance of developing breast or ovarian cancer, while men with BRCA2 variants have a higher chance of developing breast or prostate cancer.
At present, BRCA testing in Scotland is only available to people who know of a direct family connection to a variant, or who have a history of breast, ovarian and/or prostate cancer in their family.
However, research by the study team has shown that two specific gene changes are more common in people with Westray or Whalsay ancestry, even if they do not know of a family history of cancer.
By identifying people who carry these specific variants before they become unwell, the project offers patients and their families access to genetic counselling, screening, and preventative care.
The project is led by Professor Zosia Miedzybrodzka, Service Clinical Director of Genetics at NHS Grampian and Professor of Medical Genetics at the University of Aberdeen, who was recently made an OBE for her services to genetic medicine and research.
“For many years, our team has seen the impact the inherited BRCA variants can have on families from Orkney and Shetland,” she said. “We know that these specific variants are more common in people with Westray and Whalsay ancestry and this project gives us an important opportunity to identify people across Scotland who may be at higher risk, before they develop cancer.
“Testing can give people knowledge, choices, and access to support. For those who test positive, it means we can offer genetic counselling, further testing, screening, and referral into local genetics services. Most important, it creates opportunities for preventative care which could make a real difference to patients and their families.
“This project has only been possible because of the people of Westray, and the wider Orkney and Shetland communities, who have supported this work and helped us reach this point. Their involvement has been absolutely vital, and I am incredibly grateful to everyone who has played a part in making this possible.”
The project builds on many years of work by the NHS North of Scotland Genetics Service team and University of Aberdeen researchers, which identified the same specific BRCA variant repeatedly in women from Orkney with breast and/or ovarian cancer. They used clinical genealogy to show that patients with the variant could be linked to one large family with origins in Westray, and the variant affects one in 25-50 people with ancestors from the island.
Additional research by the University of Edinburgh revealed the population significance of the variant, and highlighted the importance of a second BRCA2 variant, which affects one in 40 people with ancestors from Whalsay in Shetland
A pilot testing trial was carried out in Westray in 2023, funded by Westray Development Trust. The trial offered testing to anyone living in Westray with a Westray-born grandparent, regardless of family history, and has helped pave the way for this larger Scotland-wide project.
Gina Rendall, Operations Manager at Westray Development Trust said, “We are absolutely delighted that the testing pioneered from our community fund can now be rolled out to our Westray descendants wherever they live in Scotland. Something we very much hoped would happen, thanks to Zosia and her team and the all the funders.”
Catherine Myles, Lead Officer at NHS Highland Charity, said: “This is a fantastic example of how research and innovation developed in the North of Scotland can have an impact far beyond our region. What began with work alongside communities in Orkney and Shetland is now creating opportunities for thousands of people across Scotland to better understand their cancer risk and access support at an earlier stage.
“NHS Highland Charity is proud to be contributing £29,224 towards this pioneering programme, ensuring people living in Highland and Argyll & Bute can participate in this important research. Supporting projects that improve the health and wellbeing of people living across our region is at the heart of our work, and this initiative has the potential to make a real difference for local families with connections to the Northern Isles.
“This project reflects the power of partnership working, bringing together NHS charities from across Scotland alongside Friends of ANCHOR to fund something that no single organisation could achieve alone. We are grateful to everyone whose charitable donations have helped make this possible.
“Early identification of cancer risk can open the door to advice, monitoring and preventative care before people become unwell. We are delighted to support a programme that could help improve outcomes and save lives for people in our local communities and across Scotland.”
The new testing programme will begin next year, starting in Orkney and then moving to Whalsay and the rest of Shetland, with an aim to begin to roll out across the Scottish mainland in 2028.
The testing is simple and non-invasive. Participants will provide a saliva sample which will be analysed by Prof Miedzybrodzka’s team at the NHS North of Scotland Genetics Service, and those who test positive will be offered further testing and support.
Read more about NHS Highland Charity.