Genetic Testing

What is genetic testing?

Genetic testing – sometimes called genomic testing – finds changes in genes that can cause health problems. It's mainly used to diagnose rare and inherited health conditions such as vascular EDS (vEDS).

Some people with vEDS are diagnosed on the basis of subtle signs in their physical appearance, together with their medical history and a genetic test. Many people who do not have vEDS can have some of these features as some are common in the general population. Also, not everyone with a confirmed diagnosis of vEDS has all of the typical features.

Who can have a genetic test on the NHS?

You need to be referred for genetic testing by a doctor.

Talk to your hospital specialist about whether testing is right for you.

Is genetic testing free on the NHS?

Genetic testing is free on the NHS if you are referred for it by a hospital specialist.

You will generally only be referred if you have a suspected genetic health condition or if you have a particular type of cancer.

Having a genetic test

A genetic test is usually done using a sample of your blood or saliva, and in some cases a skin biopsy.

The sample of blood, saliva or body tissue is sent to a genetic testing laboratory to be analysed.

Getting the results

You'll be told when to expect the results of your test. Currently, it takes approximately 7 months and in some instances results are available sooner therefore we advise to stay with the NHS for genetic testing.

The results from the test may show:

you have a change in your genes which is known to cause a health condition
you do not have a change in your genes which is known to cause a health condition
it's not clear what the results mean for your health (but doctors may have a better understanding of the results in the future), this is referred to as a Variant of Uncertain Significance (VUS).

After you get your results, you may be referred to a genetic counsellor to help you understand what they mean for you and your family.

Priority genetic testing

Priority testing is available for the most urgent clinical work if there is a suspicion of vEDS and the patient is:

pregnant women undergoing prenatal diagnosis;
where rapid genetic testing may alter clinical treatment or decision making regarding any planned surgical operation.

Diagnostic confirmation

If you receive a confirmed diagnosis of vascular EDS, you should contact us to let us know, we can provide you with all the resources available through the VEDS Support Programme.

We can also facilitate a referral to the EDS Service, a highly specialised service commissioned by NHS England with clinics in Sheffield & London.

Can I have private genetic testing?

Private genetic testing involves the same genetic testing process, but you will have to pay for it instead of the NHS. It can often be delivered by clinicians who work both in the NHS and for a private practice, but not every clinician works for a private practice – there is a smaller pool of clinical expertise in private practice.

Many of the elements of the process are slow, and this is mostly not because of NHS resource problems, or waiting times, but because the process of making a genetic diagnosis takes time. You will probably be able to access genetic testing sooner, but you might not get as good an outcome.

In NHS Regional Genetics Services, patients suspected of vEDS might be referred to the EDS National Diagnostic Service who are experts in the rarer types of EDS, or your clinician might consult with them. If that expert does not provide private services, then you might lose out on that specific expertise by going privately.

There is also an issue with continuity. When it is working well, the NHS should function as a single complete system, where one clinician can refer you to the most appropriate clinician to treat them. Before entering into private genetic testing, you should make sure you understand what the next steps for you will be, and whether the NHS will continue your treatment.

What is direct-to-consumer genetic testing?

Direct-to-consumer genetic tests are genetic tests that are marketed directly to you as a consumer. You can order these online or by post, complete at home and then send away for analysis. Direct-to-consumer genetic tests can provide you with some information about your genetics but they are not tailored to you.

These tests are not designed to diagnose a medical condition and should not be used as a substitute for visiting your specialist if you are at all concerned about vEDS. It is also important to note that they are not designed for use on children.

If you have any concerns about vEDS speak to your specialist.

Last Updated: August 2024