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Testing begins in Westray to detect faulty cancer gene

A landmark study found one in 100 people with Orcadian grandparents had a specific mutation of the BRCA1 gene.

Westray in the Orkney Islands.
Westray Development Trust has pledged £15,000 to a cancer study. Image: Gina Rendall.

Genetic testing taking place on the Orkney island of Westray is looking for a gene variant linked to a higher risk of breast and ovarian cancer.

The Westray Development Trust has given £15,000 towards a testing programme for 200 islanders who have grandparents from the island.

The test is a saliva smear carried out at home, but organised by the Westray GP practice.

A landmark study found one in 100 people with Orcadian grandparents had a specific mutation of the BRCA1 gene.

Researchers found most of them could trace their ancestry to Westray. The island has a population of only 600 people.

While there are other BRCA gene variants, which can leave women at a higher risk of ovarian and breast cancer, the Orkney variant BRCA1 V1736A is believed to be the first time a geographic ancestral link has been made in the UK.

Testing offered over Westray breast cancer gene

Gina Rendall, operations manager at the Westray Development Trust, is one of the first taking part in the testing scheme.

Gina Rendell of Westray Development Trust who have support breast cancer gene testing.
Gina Rendell of Westray Development Trust who have support breast cancer gene testing. Image: Supplied.

She told this morning’s BBC Good Morning Scotland that when the variant was discovered there was an impact on the island community : “It is hugely important that testing is rolled out, we’re just a pinpoint in the whole thing.

“Knowledge is power in this case, it’s giving you information for making a proper healthcare plan for the rest of your life.

“There are a lot of anxious folk out there, if we can be preventative on this, it is going to save money and save lives.”

Identifying the variant was the result of 25 years of research by Zosia Miedzybrodzka, professor of genetics at Aberdeen University and director of the NHS North of Scotland Genetic Service.

Testing available for 200 adults on Westray

Prof Miedzybrodzka said: “We highlighted that this gene alteration started some 400 years ago in Westray.

“It will not have come without a price. Some people will have found that scary, daunting, maybe a bit upsetting.

Professor Zosia Miedzybrodzka says this new method of genetic testing is game-changing. Image: Aberdeen University
Professor Zosia Miedzybrodzka. Image: Aberdeen University

“What we are offering is for people to have a test and take control of their destiny by being able to take preventative healthcare measures.”

She said that people with the gene would face “big decisions”about what steps they could take if they have the gene.

Of the 480 adults on the island, some have been tested already, but anyone with grandparents on the islands can request a test from the GP clinic.

Anyone with a positive test will be offered a mammogram and advice will be given to anyone with the gene variant.