Genetic Testing

Over the past two decades, there has been significant progress in the understanding of genes and the role they play in some cancers if they become altered. Having this knowledge can therefore be important in helping you or your family to make any important decisions about prevention or care.

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 or ovarian cancer, you should ask your cancer team or GP about options for genetic testing. Alternatively, you can contact Ask Eve for more information.

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 any of the risk factors listed in the previous section, you can speak to your GP about options for genetic testing.

What does genetic testing involve?

Your clinical team 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

While not common on the NHS, this also looks for inherited (germline) alterations. It simply involves giving a sample of saliva. In some cases, this can be provided as a kit to do at home.

3 – Taking a sample of the tumour itself

Known as tumour testing, this involves extracting DNA from the tumour itself (via a biopsy). If this test is positive (for example, showing a BRCA gene alteration), then a blood or saliva test may 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 depending on the type of test and your specific circumstances. In general, it takes a few weeks to get a result; however, it may take longer.

Your results should always be given to you by a health professional – usually a geneticist or oncologist.

What are the results likely to show?

Results can include a lot of unfamiliar language and should always be given to you by a trained professional. You should also feel free to ask any questions you may have. 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.