To access genetic testing you must contact your GP or specialist clinician who will arrange a referral for you to a Regional Genetic Service. Here we explain what will happen at that appointment, and how long you might have to wait for a result.
After being referred to an NHS Regional Genetics Centre you will usually be sent a leaflet or letter explaining what will happen when you attend the clinic for your appointment. This letter often asks you to bring your child with you to the appointment. Before attending appointments, it is a good idea to write down any questions that you want to ask when you are there. You might also find it helpful to take a notebook along to the appointment. Some families record the appointment on their phone so they can listen again afterwards. You should always ask permission from the other people at the appointment before recording it.
If you are worried you won’t remember some of the details at the appointment you can ask your geneticist to write them down for you to look at again when you get home. Usually they will write to you after the appointment summarising what was discussed so you have a written record of it.
If you are a single parent or your partner cannot attend the appointment you might want to take along another family member or trusted friend for support. They may also remember points about the appointment that you missed.
Often at the start of the first appointment the geneticist will ask parents what they are hoping to find out, for example:
Most of the appointment will then be going through the ‘genetic assessment process’. This is a diagnostic process where clinical geneticists work with laboratory staff and other medical professionals to explore the possible reasons for the different developmental patterns a child has. Their aim is to identify a genetic syndrome or condition that explains the child’s difficulties. The cause of the condition might be a single-gene disorder or it might be that a particular chromosome has a piece missing (deletion) or an extra piece (duplication) or because pieces of chromosomes have ‘swapped around’ (translocation).
Identifying the genetic cause of a child’s health problems occurs through a combination of investigations:
The history of a child’s development and the pattern of problems that they currently have or have had in the past is a key component of the assessment. It can be frustrating having to repeat your child’s history to yet another professional, but this is a very important part of the assessment. This can sometimes feel upsetting as you have to focus on all the things that make your child different or that they can’t do.
It is a good idea to have people you can talk to after your appointment. This might be a friend or family member or you might want to share your feelings with other SWAN UK families who understand how difficult these appointments can be. You can join SWAN UK by completing and returning our registration form which you can download. You can email it back to firstname.lastname@example.org or print and post it to us.
The geneticist will also ask about your family history to see if they can identify patterns that might give clues to the cause of your child’s problem. Family history is also important because if the problem is genetic then it may be the result of changes in genes or chromosomes which were passed down from one or both of the parents. Sometimes it may be possible to make a specific diagnosis based on these historical descriptions alone without the need for genetic testing.
Sometimes families might find it difficult to describe their family histories because they may be adopted or have little contact with their family.
The aim of this is to identify any particular physical features that might give the geneticist a clue about a possible diagnosis. This can be an odd, and sometimes upsetting, process for both the child and parents.
‘We sat in a room with a genetics team as they poked and prodded and listed all of my child’s features that stood out to them. Things like unusual facial features, sparse hair and horizontal creases on the hands along with many others. I came out of the meeting wondering what other people must see when they look at my child.’ (SWAN UK Member)
This is usually the final part of the diagnostic process. It takes places after careful examination of the child’s history and the physical examination.
Samples of the child’s DNA (and sometimes the parents’) will be taken to test and look for changes in the DNA. The samples needed can vary and may include blood, saliva or skin. Once a geneticist has an idea about what might be a potential diagnosis for the child, they may order laboratory tests straight away to confirm the suspected diagnosis. There can often be a long wait for results. You can find out more about what happens at a genetics appointment by checking out the Contact A Family Podcast – ‘What Happens at a Genetics Appointment’ The information on this page was informed by the report ‘Genetic Journeys – Key findings from a study of the experiences of families referred to paediatric genetics’. SWAN UK is grateful to the project team for sharing their findings.
Sometimes it is not possible to undertake genetic testing straight away. This might be because your child is too young for their physical features to give any clear ‘clue’ about what the underlying condition may be.
In these situations, you will usually be invited back for follow-up appointments several years later when there may be more clues because your child has developed, because new medical knowledge has come to light, or because a new test has become available. This period is usually referred to by geneticists as ‘watchful waiting’.
It is common for families to be surprised by the ‘watchful waiting’ period; most people don’t realise how long genetic testing can take. It can be frustrating and worrying waiting for answers and many families wonder if they have been forgotten.
Whilst they are waiting many families start consulting ‘Dr Google’ to see if they can find answers about what is wrong with their child. Although this is understandable, internet searches for symptoms often produce photographs of children with a range of different conditions which can vary in the way they affect different children. It is often the ‘worst-case scenario’ images that pop up and some of these images can be very upsetting for families to see.
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.
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. The price for this type of direct-to-consumer genetic testing ranges but it is currently available for around £125.
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 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, counselling will be available both before and after you take the test.
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.
The information that a direct-to-consumer genetic test will give you depends on the provider. Tests vary in how much of your genetic information they look at and to what level of detail. The best known brand of direct-to- consumer genetic testing, 23andMe, is marketed as ‘Health and Ancestry’ tests. The test will 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 of 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.
My child was seen by a geneticist years ago, should I ask to be seen again?
There have been significant advances in genetic testing over the last few years. Genomic microarray (Array-CGH) is an advanced technique in genetic testing that detects copy number changes in a person’s chromosomes. This means it looks for where there are deletions (bits missing) or duplications (where there are extra bits) in your DNA that would not be identified using conventional microscopy-based chromosome analysis (Karyotype). Such tests are now more widely available in the NHS.
Many children and young adults with developmental delay who had a ‘normal’ result from a microscopy-based chromosome analysis (Karyotype) in the past have after, being re-tested using genomic microarray analysis, been found to have a microdeletion or microduplication that provided a diagnosis for the child’s condition. In the NHS at present, clinical genetics services are commissioned as Specialised Services meaning a referral has no cost implications for the referring clinician. Exome and Genome sequencing is a new genetic testing method which tests all the genes in the body. At present sequencing is not available in NHS Regional Genetics Service clinics. It is only available by taking part in research studies.