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.

Some people with Vascular EDS 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 Vascular EDS can have some of these features as some are common in the general population. Also, not everyone with a confirmed diagnosis of Vascular EDS has all of the typical features.

How can I access genetic testing on the NHS?

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

If you feel that you need a genetics consultation, please contact your family doctor (GP) to refer you to an NHS specialist, or, if you are being seen in a hospital speak to your specialist, who may be able to refer you to your Regional Genetics Service, if you fulfil specific clinical criteria.

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

I am a HCP, how do I refer a patient to the specialist genetic services?

Discuss the option of a referral to the specialist genetic services with the patient and the reason you are recommending this. Please ensure that the patient consents to the referral and is aware of what is likely to follow.

Click here for diagnosis, natural history, and management in vascular Ehlers–Danlos syndrome published in 2017.

Identify your regional genetics centre and where they hold district clinics.

Identify the referral pathway specific for your regional genetics centre, as in some centres a referral may be made via telephone (if urgent – usually because the referral involves pregnancy) or via letter (routine) or via electronic means. If you are unsure if a referral is appropriate, then telephone your regional genetics centre for further advice.

The referral information the specialist service will require is similar to that for any specialist referral, (patient identifying details such as date of birth, address, telephone number, of course) but it is helpful to include information about the confirmed or suspected diagnosis or the genetic question being considered. In particular, information about the family history is important to highlight in the referral letter, particularly if any members of the family have been seen by a genetics service.

Priority genetic testing

Request priority testing for the most urgent clinical work if there is a suspicion of Vascular EDS 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.

Accessing genetic testing

Genetic testing on the NHS is available through an NHS specialist who orders the tests that are appropriate for you from an NHS-certified laboratory. The clinician will request a test only if they know that 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 such as Vascular EDS, counselling will be available both before and after you take the test.

Current lead times for diagnostic genetic testing results in the NHS is approximately up to 12 months, in some instances results are available sooner so we advise to stay with the NHS for genetic testing.

If you receive a diagnostic confirmation of Vascular EDS you should contact us to let us know so that we can provide you all the resources available through the VEDS Support Programme and a referral to the EDS National Diagnostic 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 get to see the clinician faster with private genetic testing, but you might not get as good an outcome. In NHS Regional Genetics Services, patients suspected of Vascular EDS 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 Vascular EDS. It is also important to note that they are not designed for use on children. If you have any concerns about Vascular EDS speak to your specialist.

What happens at a Genetics Clinic appointment?

Practice may vary between genetic centres, but a genetics consultation will usually last between 30 and 45 minutes. It may involve one or more of the following:

learning about a health condition that runs in your family, how it's inherited, and which family members may be affected.
an assessment of the risk of you and your partner passing an inherited condition on to your child.
a look at the medical history of your family or your partner's family and drawing up a family tree.
support and advice if you have a child affected by an inherited condition and you want to have another child.
a discussion about genetic tests, which can be arranged if appropriate, including the risks, benefits and limitations of genetic testing.
help understanding the results of genetic tests and what they mean.
information about relevant patient support groups.

It is therefore useful to find out as much as you can from your relatives prior to your appointment, and that you bring this information with you when you come for your appointment.

If you have been referred because you or your child is suspected of having Vascular EDS, then your appointment will involve a physical examination. A doctor will examine your skin looking for scars, and determine how stretchy and soft your skin is. S/he will also assess your joints, and how bendy they are. The doctor may wish to take some photographs of your skin and joints, with your permission. These will form part of your medical record, and if necessary, will enable the doctor to discuss your case with colleagues.

The doctor will then assess how likely it is that Vascular EDS may be present in your family. It may not be possible to determine this for certain at your first appointment. There are many types of EDS, and sometimes further tests are required before a diagnosis can be made. So it is possible that you may need to come to the Genetics Clinic more than once.

If and when a definite diagnosis is made, the counsellor/doctor can then explain things in more detail, and try to help you understand the facts, in everyday language.

Your appointment will usually take place at your nearest NHS regional genetics centre. The British Society for Genetic Medicine has details for each of the genetics clinics in the UK.

EDS National Diagnostic Service

The EDS National Diagnostic Service is a highly specialised service commissioned by NHS England for individuals and families who are suspected to have complex Ehlers-Danlos Syndrome (EDS). Established in 2009 the service runs two specialist clinics for patients based at Sheffield Northern General Hospital and the Northwick Park & St Mark's Hospitals in London.

The aims of the service

Correctly investigate and diagnose cases of suspected rare EDS types.
Develop guidelines and pathways of care for the different subtypes of EDS.
Provide information about EDS for patients and their carers.
Research regarding rare types of EDS.

How are genetic tests carried out?

When Vascular EDS is suspected, genetic testing should be undertaken to look for mutations in the COL3A1 gene. This protein-coding gene enables formation of type III collagens, which provide structure and strength to connective tissues, including the skin, blood vessels, and internal organs.

A medical genetic test is most often carried out by taking a blood sample from the patient’s arm. The genetic material is extracted from blood cells in the laboratory and used in the testing process. Genetic tests can also sometimes be carried out on saliva samples and skin biopsies.

In some cases, it may be necessary to check an entire gene for mutations using a process called gene sequencing. This has to be done very carefully, and can take a long time compared with most other hospital laboratory tests. It can take weeks or even months for the results of genetic tests to become available. This is because the laboratory may have to gather information to help them interpret what's been found.

Certain genetic tests can be carried out on a pregnancy by taking a sample of amniotic fluid from around the developing baby (in a procedure called amniocentesis), or a piece of material from the placenta (by a procedure called chorionic villus sampling).

Pre-implantation genetic diagnosis

For couples at risk of having a child with a serious genetic condition, pre-implantation genetic diagnosis (PGD) may be an option.

PGD involves using in-vitro fertilisation (IVF), where eggs are removed from a woman's ovaries before being fertilised with sperm in a laboratory. After a few days, the resulting embryos can be tested for a particular genetic mutation and a maximum of two unaffected embryos are transferred into the uterus.

PGD has the advantage of avoiding the termination of foetuses affected by serious conditions, but it also has a number of drawbacks. These include the modest success rate of achieving a pregnancy after IVF, and the substantial financial and emotional costs of the combined IVF and PGD process – PGD isn't always available on the NHS. Click here for more information on PGD carried out at Guy's and St Thomas' NHS Foundation Trust.