NHS Grampian BRCA screening project for Westray / Whalsay descendants

• Viking Genes supports the NHS screening for BRCA in Whalsay & Westray folk
• We are proud to have helped lay the foundations for this screen and help change the paradigm to preventative medicine
• Our own planned Viking Genes community screen will be much broader, covering more diseases
• We’ll also include people from all over Shetland, who are also at risk of BRCA

NHS Grampian have announced the launch of a new screening programme in 2027, which will allow people with at least one grandparent from Westray to be screened for the Orkney BRCA1 variant, and those with at least one grandparent from Whalsay to be screened for the Shetland BRCA2 variant, wherever they live in Scotland. Both these variants have been shown to increase the risk of breast and ovarian cancer and, for the Shetland BRCA2 variant, also prostate cancer. 

While screening is the way forward to reduce risk and deliver more equitable genomic medicine, the NHS screen will be limited, both from the perspective of which variants are being tested and the eligibility for screening. Benefits will only be felt by a small subset of the at-risk Shetland population.

At Viking Genes, we are planning a broader genetic screening project that will help people from across Shetland, as well as those who have moved to the islands. The Shetland Community Screening Project will screen for variants causing a variety of diseases, including the iron-overload disorder haemochromatosis and Long QT Syndrome, which can cause fatal cardiac arrest. We call these actionable genetic variants, because in each case there are treatments or preventative actions that may be taken to ameliorate or avoid the disease.

It's important to understand that the BRCA2 variant is not limited only to people with Whalsay grandparents, even if it is most common there. Half the known carriers have no Whalsay ancestry: people from elsewhere in Shetland are also at risk.

Viking Genes also plans to include a different kind of variant in the screen. We call these carrier variants, as many people carry them, which has no effect on your health. However, when you inherit one from both your mother and your father, then you are at risk of the condition, as is the case with the lung disorder cystic fibrosis. The point here is again to try to prevent ill health, but this time of children who are yet to be born. Young couples who undergo carrier screening will be able to find out if they have the bad luck to both be carriers of variants in the same gene, in which case every pregnancy they have is at a 25% risk of the disease. Carrier screening would help those who need it to make informed reproductive choices, and bring valuable peace of mind to everyone else.

Once the administration of a screening programme has been set up, the staff employed, the public made aware of it, saliva kits sent out and DNA extracted, the marginal cost of including more genetic variants is not high. This is why Viking Genes believes that establishing a “one-stop shop” is the best and most cost-effective way forward. We want to prevent all the diseases that we are able to, regardless of where in Shetland they are prominent. 

For BRCA2, in the latest analysis of Viking Genes data, we have identified a total of six large kindreds or families, each descended from different couples born in the 1800s. Only one of these six kindreds comes from Whalsay, even if that kindred includes a particularly large number of people. The other five kindreds are from different places in Shetland, including Dunrossness, Bressay and the North Mainland. So, five of the six families have no Whalsay connection and therefore new members won’t be picked up by the NHS Grampian effort, because of the selective focus on Whalsay families.

At the same time, the people of Whalsay are also at risk of other ailments, for instance the fatal childhood disorder Batten disease and the lung disease cystic fibrosis. That’s why Viking Genes plans to test for all the most common genetic risk variants in Shetland to allow us to manage those risks in one simple screen.

We are supportive of all measures to deliver genetic screening to the people of the Scottish islands, as well as their diasporas, and are proud that Viking Genes played a part in getting to this stage. While both BRCA variants were known to the NHS, Viking Genes measured their frequency for the first time, revealing how very common they are in Orkney and Shetland, and discovered the link to Whalsay. This was a critical part of the evidence base to allow this targeted screening to go ahead.

In summary, the Shetland Community Screening Project will go beyond the narrow geographic and disease focus of the Whalsay BRCA screen to identify a much broader range of genetic risks across the entire Shetland population. We are excited to deliver a comprehensive and inclusive community screen that reduces inequalities in risk through delivery of preventative medicine across Shetland, as soon as we have the funding together.

Learn more about Reproductive carrier screening to avoid recessive disease in the Scottish islands