Return of 'actionable' genetic results

DNA is short for deoxyribonucleic acid. It is the genetic material found in humans and all other living things. DNA makes up what we call genes. Most genes are the same, we share more than 99% of our DNA with other people. This leaves less than 1% of our DNA that is slightly different. These differences help define each person’s unique features and chances of disease.

Unfortunately, we do not return ancestry results, due to the ethics agreement we made. Our primary aim is health and genetic research.

However, if you agree, we will let you know if we find genetics results that make you more likely to get a condition that can be treated or prevented by the NHS. You may not receive any feedback because only those with ‘actionable’ genetic findings will hear from us. 

When conducting our research, we sometimes find genes with changes that aren’t normally found in healthy individuals. These changes may cause an increased risk of certain genetic diseases.

We’d like to let you know about gene changes you may have that are linked to a health condition. You’ll only be told about it if it can be prevented or improved by NHS treatment. These gene changes are uncommon. We expect that about one or two in every hundred people will have them. We’ll only let you know about these results if you agree for us to do so, and you can change your mind about this at any time.

The list of findings will change over time, as science gets better at predicting which gene changes cause health conditions. The ‘actionable’ gene changes will be agreed with the NHS, before we notify anyone.

We start by using a list of genes containing actionable variants that is compiled by the American College of Medical Genetics and Genomics, ACMG.

This is updated annually and currently contains 81 genes.

Actionable variants in several of these genes increase the risk of heart diseases.

Examples include KCNH2, predisposing to heart rhythm problems; TTN, increasing the risk of weakening of the heart muscle; and LDLR, causing inherited high cholesterol.

Our analysis can also identify some hereditary bowel, breast and ovarian cancer predispositions.

Examples of such genes include MSH6, BRCA1 and BRCA2.

We do not return results on “carrier” status of gene alterations that can cause conditions such as cystic fibrosis. This is because they have no effect on the individual volunteer who has them, although could affect their children, only if both parents are carriers.

The actionable gene changes will always be agreed with NHS geneticists before we notify any Viking Genes volunteer.

If we find information as part of our research that could improve your health, we feel you should be given the option to know about it. You may learn about a gene that you didn’t realise was impacting your health. Once you and your doctors are aware of it, steps can be taken to prevent or reduce the impact of this gene on your future health.

Volunteers from outside the UK are valuable to our research and you are welcome to take part in the study. However, due to different regulations elsewhere, we will be unable to provide any feedback of genetic results to volunteers outside the UK.

We began to feedback results to participants in ORCADES and Viking Health Study - Shetland in spring 2023. You will most likely not receive any feedback, because only those with ‘actionable’ genetic findings will hear from us. New research means that findings could continue to be made well into the future. We will try to continue to return results for as long as possible.

No, you can still take part in Viking Genes studies if you don’t want feedback. If you don’t give consent to feedback on ‘actionable’ genetic findings, your involvement will not be affected, in any way.

Any potentially important research findings will be discussed with the NHS Clinical Genetics Service in Aberdeen. If you have an ‘actionable’ result returned, the letter from Viking Genes will include contact details for the NHS clinical genetics team. If you get in touch with them, they’ll support, advise and answer any questions you may have. You’ll be asked to provide a sample to confirm the initial research result. An NHS genetics expert will then provide you with your results and they’ll discuss what it means for you.

An ‘actionable’ finding in your DNA may suggest that other family members have also inherited the same gene change. If there is a finding, healthcare professionals may ask you to share your results with relatives it may be relevant to. NHS genetic health professionals can help with this and would confidentially discuss it with you. For example, they may provide letters or information leaflets to be passed on to interested family members.

Yes, we have permission to notify male carriers of actionable variants in the BRCA1 gene, even though their own health is not affected. This is because the gene variant can pass from a man to his daughters and granddaughters, who could benefit from additional screening and preventative care. Likewise, sisters, mothers, aunts, cousins and so on could share the gene change and benefit from knowing about it.  In the case of BRCA2, we tell male volunteers if they are carriers, for the same reasons, but also because BRCA2 can increase the risk of prostate and breast cancer in men.

We have permission to do this, if the next of kin completes a consent form. 

We can provide this if you make a request to viking@ed.ac.uk or 0131 651 8557.

You can find further information on Return of Results to Next of Kin in our information sheet:

If you have an ‘actionable’ result returned, you’ll have the chance to get treatment or prevention for the condition, through the NHS. You will be able to discuss the result with an NHS genetics expert who can answer any questions you have at the time.

You may become anxious if you learn that you have an increased chance of a health condition, due to your genetics. It’s natural to be concerned about a positive result and this is why you would be able to receive advice from trained NHS staff. You can be assured that we won’t inform you of any finding that can’t have actions taken to resolve or reduce its impact.

Genetic testing is not currently available on the NHS without a referral from your GP or a specialist doctor. Referrals are usually given when you have a family history of a certain genetic health condition. You can speak to your doctor about the possibility of testing, if you think you may need it. We are offering return of actionable results for free, if you decided to join Viking Genes and agreed to take part of it.

Prof. Zosia Miedzybrodzka has agreed to be the independent genetic advisor of the study. Zosia will be able to answer any specific questions about genetics in Viking Genes that you may have. You can contact Zosia using her details below:

Email: zosia@abdn.ac.uk  

Prof. Zosia Miedzybrodzka,

Medical Genetics Group,

University of Aberdeen,

Polwarth Building,

Aberdeen,

AB25 2ZD,

Scotland

If you would like to speak to someone about the study who is not part of the research team, please contact Prof. Sarah Wild on 0131 651 1630 or email sarah.wild@ed.ac.uk

If, after discussing any issues with the research team, you wish to make a formal complaint about the study, please contact the University of Edinburgh’s Research Governance team via email at: researchgovernance@ed.ac.uk

You can find out further information on return of results in our information sheet:

Alternatively, you can contact us. Details can be found in the link below:

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