Direct-to-consumer genetic testing

In recent years the cost of genetic testing and whole genome sequencing has fallen dramatically, giving rise to ‘direct-to-consumer’ genetic testing. These are genetic tests that you can order online or by post, complete at home and then send away for analysis. The FAQs and answers below provide more information on these types of tests.

What is direct-to-consumer genetic testing?

These are genetic tests that are marketed directly to you as a consumer. The tests can provide you with some information about your genetics but it is not tailored to you. It is carried out completely independently from the NHS. The test typically involves collecting a DNA sample at home, often by swabbing the inside of the cheek or providing a sample of saliva, and mailing the sample back to a private laboratory. Consumers are notified of their results by post, over the telephone or online. Depending on which private company is offering the test, there may be an opportunity to speak to a genetic counsellor or other healthcare professional who can help explain your results and answer questions, although this is not mandatory.

How is it different to the type of genetic testing available on the NHS?

Genetic testing on the NHS is available through your clinician who orders the test(s) that are appropriate for you from an NHS-certified laboratory. The clinician will request a test only if knowing the results will help them provide you with the most appropriate healthcare. NHS policies define who is most likely to benefit from specific genetic tests. Your clinician will collect your sample for genetic analysis and send it to the laboratory. The laboratory will then analyse and interpret the results. Your clinician will then be available to talk you through what your results mean. Anyone having a genetic test on the NHS is also likely to see a genetic counsellor. If the test will be looking to determine whether you are affected by a serious genetic condition, counselling will be available both before you take the test and after.

Direct-to-consumer testing is different as you can purchase the test directly and have it posted to your home. This type of test is not tailored to you and it is not designed to diagnose a medical condition or help you find out more information about your health. Speaking to a clinician or a genetic counsellor is not guaranteed with direct-to-consumer genetic tests.

What can this type of testing tell me and what can’t it tell me?

It depends on the provider of the direct-to-consumer genetic test what information it will give you. Tests vary in how much of your genetic information they look at and to what level of detail. The test could provide information about a number of physical traits (like lactose intolerance and male pattern baldness) as well as how you might respond to specific medications, whether you have a higher than normal risk of developing certain diseases (like breast cancer), and whether you carry the genetic alterations that are associated with a number of rare genetic conditions (you can carry these mutations but not be affected by the condition).

It is important to note that no direct-to-consumer genetic test is completely comprehensive. They only look at some of the genetic alterations that are associated with different diseases so a negative result does not guarantee that you will never develop that condition. It should also be remembered that your genetic information only provides one piece of information about an individual’s health – other genetic and environmental factors, lifestyle choices, and family medical history also affect how likely you are to develop many conditions. These factors are discussed during a consultation with a doctor or genetic counsellor, but in many cases are not addressed by direct-to-consumer genetic tests.

Direct-to-consumer 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 the risk that you may develop a condition in the future. It is also important to note that they are not designed for use on children. If you have any concerns about your health, or the health or a loved one, and think that you or your loved one could benefit from having a genetic test, the best thing to do in the first instance is to speak to your doctor.