Clinic set-up and discussion tool

A genomic test looks at part or all of an individual's genetic material to look for signs that might explain a clinical condition. These may include:

• differences in the unique sequence of DNA letters
• missing chunks of DNA
• additional chunks of DNA
• DNA sequences that are not in the correct order.

Depending on the tumour site, most tests will be carried out by taking a blood sample or a saliva sample. Before this can happen, it is important for the person consenting to testing understands the possible results and the impact on both them and their relatives.

This should mean that a person who is taking a genomic test has the opportunity to have an in-depth conversation with a trained professional, their questions answered and uncertainties addressed.

It is important to provide an overview of the possible results that might be returned from a diagnostic test: is it looking at a few genes, is it looking at lots of genes or all of the DNA? Then explain what the implications of the result will be.

Results are usually fed back directly to the clinical team who have ordered the test, usually via an end-to-end encrypted email sent directly from the laboratory. This result will then be communicated to you, either in a face-to-face, or a virtual or telephone appointment. A copy of the report can be made available to you if you request it.

It is helpful to explain that there are usually 3 possible results from this test:

• Negative
  No pathogenic variant has been found in the DNA looked at during the test. This result can feel like a relief, or for some people, can feel quite frustrating or even disappointing.
• Positive
  This means a pathogenic variant has been identified. Depending on the variant and type of cancer you have, it will likely impact on your treatment options, your treatment order and on your family.
• VUS: Variant of unknown significance
  This result means that a variant has been found but there isn't enough data to conclude that is definitely linked with the cancer you have been diagnosed with.

If it is confirmed that you have a ‘pathogenic variant’ it is likely that this will affect your family. Most pathogenic variants that are linked to cancer are passed on in an ‘autosomal dominant’ pattern, which essentially means each first degree relative has a 50% (1 in 2) chance of sharing the same variant with you.

Genetic counsellors at your local Clinical Genetics Centre will be able to help you share this information with your family. Each relative should contact their GP if they wish to in order to pursue what is called predictive testing. The GP will arrange for the relatives to meet with their nearest clinical genetics team and have a blood sample taken to compare their DNA to yours and see if they share the same pathogenic variant (/gene alteration).

In most instances, having a genomic test will not affect the personal health insurance someone has. You do not usually have to tell insurers that you are having a genomic test. You may have to disclose this information on an application form if you are applying for new insurance.

If you already have insurance cover in place, you do not have to disclose any further information to your insurer. More information is available on the Genomics England and Association of British Insurers (ABI) website.

All data used for genomic analysis is kept secure and confidential. More information is available on the NHS England website.

The results of a patient’s genomic test will be added to their patient record.

It is normal practice in the NHS to store the DNA and/or RNA extracted from a sample even after the current testing is complete, as it may be used for future analysis and/or to ensure other testing (for example that of family members) is of high quality.

For Whole Genome Sequencing, the data from genomic tests is entered into a secure national database for the NHS Genomic Medicine Service. This system will store data about the test and results. Only staff with approved access can see this data.

As part of the NHS Genomic Medicine Service all patients undergoing whole genome sequencing will be given the option to contribute their genomic data to a secure library so that approved researchers may access that data in a form that does not identify them. If patients choose to do this then your data will be helping researchers and scientists to develop the treatments of tomorrow.

Managing genomic information, informatics and governance will be increasingly challenging. Data needs to be appropriately integrated into NHS IT systems. Genomes produce huge amounts of data (‘petabytes’) and professionals should think about the following questions:

• Where is this data stored?
• How is it coded?
• Who owns this information? Individuals or whole families?