Testing pilot trial now underway for Orkney cancer gene link

Prof Zosia Miedzybrodzka

COMMUNITY testing is now underway in the Orkney outer isle of Westray for a gene variant that causes a higher risk of developing breast and ovarian cancer.

The variant in the gene BRCA1 was linked to a historic origin in Westray by leading geneticists from the Universities of Aberdeen and Edinburgh, who published their findings in the European Journal of Human Genetics in March.

Now, a small pilot trial organised by NHS Grampian and funded by the Westray Development Trust is offering testing for the variant to anyone living in Westray with a Westray-born grandparent. Local cancer charities Friends of ANCHOR and Clan cancer support are supporting the programme set up in partnership with the Westray community and GP practice. NorthLink Ferries have provided additional support by transporting the test kits to Orkney free of charge.

Westray residents with a Westray-born grandparent who wish to be tested are encouraged to pick up a self-test saliva kit from today (Monday, 3 July), either from the Westray GP Practice or from the Westray Development Trust office.

Information about the test and what it could mean is available in the test kit and online. Residents who wish to discuss their test decision can book a chat with a genetic counsellor from the Aberdeen team through the Orkney BRCA1 helpline on 01224 553940, or by emailing gram.orkBRCAgene@nhs.scot

Completed saliva kits should be returned to the practice, who will send them onto the Aberdeen genetics laboratory to be tested for the BRCA1 variant. GPs will not be able to assist with gene testing and any questions about the research and next steps should be directed to the helpline.

Results will be posted within five weeks of the sample being received by the lab and anyone found to have the variant will be offered a rapid-access genetic counselling video call or telephone appointment to access ongoing specialist care, support and testing of relatives resident in Scotland. The team will signpost close relatives living further afield to local testing.

If the pilot is successful the long-term aim is to offer the test to everyone in Scotland with a Westray-born grandparent, then to assess which more distant relatives should be offered a test. Currently in Scotland the test is only available to Westray residents, those who know of a direct family connection to the BRCA1gene, or have a significant history of ovarian or breast cancer in their family.

Zosia Miedzybrodzka, Professor of Medical Genetics at the University of Aberdeen and Director of the NHS North of Scotland Genetic Service, led the research that established the Westray link to the BRCA1 variant with Professor Jim Wilson from the University of Edinburgh.

Welcoming the launch of the pilot trial, Professor Miedzybrodzka said: “The NHS Grampian genetics clinic and lab teams are delighted to offer this pioneering new service to Westray residents which will improve care and save lives. I am grateful to every single person that has made this pilot happen. We are setting up a system that will hopefully extend to the rest of Orkney and Scotland as soon as funding allows.”

Gina Rendall, Operations Manager at the Westray Development Trust, is among those planning to take part in the testing pilot. She said: “When the link to the variant was discovered the news had a deep impact on our small community and as a Trust we are delighted to offer the funding which means that members of our community can be tested and supported by Zosia’s team. I’m really proud to be from Westray and of the Trust’s pledge to support the pilot.”

Professor Nick Fluck, Medical Director for NHS Grampian commented: “Our genetic counselling team has done an outstanding job of fielding more than 1,000 calls and emails about this important new discovery and the roll-out of further testing will mean our researchers will continue to contribute to world-leading knowledge in this field. We are very pleased to be working alongside the University of Aberdeen and partners on this piece of work.”

Meghan McEwen, NHS Orkney Board Chair, said: “The pioneering work of the Grampian genetics team has done an incredible amount of work to ensure women with a Westray-born grandparent are able to access genetic counselling and their own risk factors around this discovery. 

“The primary care team in Westray and NHS Orkney has done a wonderful job in providing support and information as part of this effort and I am extremely proud of our services and our community for responding so quickly.”

Dr Kate Done from the Westray GP Practice added: “The team at Westray GP Surgery are very excited to be able to support this project. It’s a great opportunity to help prevent these serious diseases amongst our patients, and hopefully the wider population in times to come.”

Kay Johnston, Clan Cancer Support’s head of cancer support services said: “Clan has been delivering a dedicated drop-in service in Westray since April, following the publication of research concerning the BRCA1 gene variant, to ensure we could provide confidential support to the community.

 “We welcome this testing pilot trial for the gene variant and will continue to support any individuals on Westray who are worried about their own results or a loved one who has been affected.”

A series of FAQs and short video explainers are available on NHS Grampian’s website: www.nhsgrampian.org/BRCA1

A video featuring Professor Zosia Miedzybrodzka is available here

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