Direct-to-consumer (DTC) tests are genetic or genomic testing kits offered by commercial companies directly to customers. Many companies claim to inform people about disease risks and the advertising will often present DTC genetic testing as empowering, and the testing process offered is easy and simple (saliva DNA kits sent through the post).
We fully support individual efforts to be more health aware and to adopt a healthier lifestyle. DTC tests can also increase awareness of genetics and its influence on health. There are, however, potential problems with DTC tests and some important considerations that consumers, and healthcare professionals, need to know about.
If you have bought a DTC test or are considering one:When it comes to DTC genetic tests, it is important that you know exactly what the test you are buying involves. Some DTC tests look at SNPs or genetic alterations associated with an increased risk of certain cancers. These results could have significant implications for your or other members of your family. However, there have been several cases where these results have been wrong. Your DTC test result could cause a lot of undue worry in these circumstances. Similarly, having a ‘normal’ result, does not mean you are not at increased risk of certain cancers. This is because these tests aren’t specifically looking at the relevant parts of the genetic code for this information.
If you are concerned about your family history of disease (including cancer), or feel you might have a genetic condition, please discuss this with your GP who can refer you to a clinical genetics service if appropriate. DTC genetic tests are not designed to diagnose a medical condition and should not be used as a substitute for visiting your doctor if you are at all concerned about your current health or your risk of developing a condition in the future. It is also important to know that DTC tests are not designed for use on children.
If you do choose to have a DTC genetic test, you should make sure that you understand what the company will do with your data. Some companies might store, sell or conduct research on your genetic data.
You should also be aware that NHS Scotland healthcare professionals and scientists cannot interpret any raw data or results obtained from a DTC genetic test.
More information can be found on the
Genetic Alliance website and the
Association of Genetic Nurses and Counsellors website.
If you are a healthcare professional: A
position statement developed by the Royal College of General Practitioners (RCGP) and the British Society for Genetic Medicine (BSGM) recommended caution when asked to offer, or provide, clinical expertise about the results of DTC genomic or genetic testing.
This is because the analytical validity, sensitivity and clinical utility of such testing may be much lower than is popularly perceived. For certain types of DTC results, there is a very high chance of false positive or false negative results. This means that patients should be offered the NHS care which would otherwise have been offered (e.g. family history and risk assessment, healthy lifestyle advice, or referral to specialist care) regardless of their DTC result.
