Westray gene testing to be rolled out nationwide

Testing is to be rolled out nationwide for a genetic cancer risk in people with Westray ancestry.

The charitably funded project will help identify people with a variant in the BRCA1 gene, which can increase the risk of ovarian and breast cancer.

The Westray mutation of the gene was discovered by researchers from the Universities of Aberdeen and Edinburgh, and revealed in March 2023.

Another variant, in the BRCA2 gene, particular to people with ancestry in Whalsay, Shetland, will also now be the subject of genetic testing across Scotland.

The two-year project, which will cost more than £365,000, is being funded by eight charities.

It will be led by researchers from the University of Aberdeen and the NHS North of Scotland Genetics Services based in NHS Grampian. It is anticipated that around 5,000 tests will be carried out across Orkney, Shetland, Grampian, Highland, Tayside, Lothian, and Greater Glasgow and Clyde NHS areas.

Friends of ANCHOR is contributing £137,000 towards the programme, with NHS Grampian Charity, NHS Orkney Endowment Fund, Shetland Health Board 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, with Friends of ANCHOR subsidising 87.5 per cent of the costs associated with the roll-out in Orkney and Shetland.

NHS Orkney Endowment Fund and NHS Shetland Health Board Endowment will each fund 6.25 per cent.

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 awarded 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,” said Professor Miedzybrodzka.

“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.”

She explained that testing will be give those affected “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,” said the researcher.

“Most importantly, 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.

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.”

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.

Anyone with Westray or Whalsay ancestry who is interested in accessing genetic testing should wait for advice on when this becomes available via their local health board.

The testing is simple and non-invasive. Participants will provide a saliva sample which will be analysed by Professor Miedzybrodzka’s team at the NHS North of Scotland Genetics Service, and those who test positive will be offered further testing and support.

• Information about cancer symptoms and how to reduce your chances of getting cancer is available from the NHS Inform website. People worried that they might have cancer should read the advice on NHS Inform and consult their GP. More information on BRCA1 and BRCA2 and breast, ovarian, and prostate cancer in families is available via the NHS, MacMillan Cancer Support and Breast Cancer Now. Detailed information about eligibility for breast cancer assessments is available from Breast Cancer Now.