Who can access genetic testing?
Genetic testing on the NHS is an option for many people diagnosed with a cancer that may be hereditary or for people with an immediate family member who has a known gene alteration (a parent, sibling or child). If you or a family member has been diagnosed with breast, ovarian or womb cancer, you should ask your cancer team or GP about options for genetic testing. Alternatively, you can contact Ask Eve for more information.
BRCA testing is available for all people with Jewish ancestry (of any origin), since early 2024. You can find out more about this and how to access testing at jewishbrca.org/
Genetic testing may also be available for other people considered to be at particularly high risk of developing a hereditary cancer, such as those with a history of related cancers in the family. If you have a history or breast, ovarian and prostate cancer in one side of your family, or bowel, womb or ovarian cancer, speak to your GP to see if you are eligible for testing, or contact Ask Eve for advice.
What does genetic testing involve?
The team looking after you will decide on the most appropriate test for you based on your specific circumstances. For testing for a BRCA gene alteration, there are three main tests used:
1 – Taking a blood sample
This looks for inherited gene alterations (known as germline). The results may have implications for family members as well as for the person being tested.
2 – Taking a sample of saliva
This also looks for inherited (germline) alterations. It simply involves giving a sample of saliva. This can be provided as a kit to do at home.
3 – Testing the cancer tissue
Known as somatic testing, this involves extracting DNA from the tumour itself. If this test shows a gene alteration, then a blood or saliva test will be required to confirm if there is a risk of it being hereditary.
How long do results take?
The time it takes to get your results will depend on the type of test and your specific circumstances. It can take from as little as 2 weeks to 2 months weeks to get a result.
Your results should always be given to you by a health professional – usually a geneticist or a trained member of your clinical team.
What are the results likely to show?
Results can include a lot of unfamiliar language Some of the common terms you may see or hear include:
- Pathogenic: Sometimes referred to as ‘positive’, this means the test shows you have a gene alteration that is very likely to be cancer-causing.
- Likely Pathogenic: The test shows an alteration that is likely to be cancer-causing.
- Variant of Uncertain Significance: The test shows an alteration that is known; however, there is uncertainty of its behaviour. It is not currently known to be cancer-causing and should not affect your care. It may be that, in the future, more becomes known about this alteration.
- Likely Not Pathogenic: Sometimes referred to as ‘negative’, the test shows a gene alteration that is unlikely to be cancer-causing.
- Not Pathogenic: The test shows an alteration that is understood not to be cancer-causing.
A Variant of Unknown Significance
If your results show a variant of uncertain significance, your clinical team will likely treat this as a negative result. However, they will note the findings in your patient record.
Although unlikely, should the gene alteration found become reclassified by the testing laboratory as disease-causing at a later date, you would be contacted, and the implications discussed with you.
For more information on genetic testing in ovarian cancer specifically, download our Ask Eve guide.