Testing pilot trial now underway for Orkney cancer gene link
Published: 03/07/2023 12:28Community 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. 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 this 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 BRCA1 gene, 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.”
Notes
More information on BRCA1 and breast and ovarian cancer in families is available via the NHS and MacMillan Cancer Support. Cancer support and advice is available from CLAN and Friends of Anchor can also provide practical and emotional 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.
NHS North of Scotland Genetics Service
Clinical genetics services for the North of Scotland are based in the Clinical Genetics Centre in Ashgrove House on NHS Grampian’s Aberdeen Foresterhill Campus, and at Raigmore Hospital, Inverness.
The multi-disciplinary team offers a comprehensive clinical genetics service for patients from NHS Grampian, NHS Highland, NHS Orkney, NHS Shetland and the northern half of the Western Isles. An important part of their work is education and teaching, and translational genetics-based healthcare research.
They provide a clinical diagnostic and counselling service for patients and families affected by or at a risk of inherited disorders.
About Westray Development Trust
Westray Development Trust is a community led company and charity who provide support to the island of Westray through their charitable work.
In 1998 Westray Development Group, was established after the Westray community held a public meeting to discuss their concerns for the future of their island with its steadily declining population and lack of employment opportunities. A year later the group became a Trust and registered as a charity. With a mission to develop the economic, social, and cultural sustainability of the Westray Community by harnessing the quality of its resources people and island environment.
A community owned turbine provides an income for the trust which allows them to support projects within the island with direct benefit to the Westray community. Including a youth centre, community garden, social housing, charity shop and home help service to name a few.
For more information, please visit https://westraydevelopmenttrust.co.uk/
About Clan Cancer Support
Clan Cancer Support provides emotional and practical support to people affected by cancer across north-east Scotland, Moray, Orkney and Shetland.
Over the last 39 years Clan’s services have grown significantly to address the emotional and social impacts of cancer and include counselling, children and families support and nutrition, health and wellbeing advice. The charity also operates Clan Haven which offers bed and breakfast accommodation near Aberdeen Royal Infirmary, providing affordable accommodation with onsite support for those who have to travel from home to Aberdeen for treatment. For more information please visit: https://www.clancancersupport.org
About Friends of ANCHOR
Friends of ANCHOR is a cancer and haematology charity that provides support to people living in the North-east of Scotland, including Orkney and Shetland.
Founded in 1997, the charity’s aim is to make North-east cancer and haematology care the best it can possibly be, which it does by funding patient-centred wellbeing services, pioneering research, leading-edge equipment and clinical excellence initiatives. Friends of ANCHOR were major funders of Prof Miedzybrodzka’s “North-east Scotland gene machine”; equipment with gene scanning technology which has enabled treatment, diagnosis and prevention of cancer since 2012.
The charity is unique in that its operating costs are fully covered by Aberdeen-based company Balmoral Group, freeing up 100% of donations and fundraising for the ultimate benefit of cancer and haematology patients.