This guide is for adults who think they may have a rare condition and are seeking a diagnosis using NHS services in England.
In this information we have used the term ‘you’ but we recognise that there are a variety of relationships (e.g. you could be seeking a diagnosis for yourself, you may be a carer for an adult who is seeking a diagnosis of a rare condition, etc). This guide gives information on seeking a rare diagnosis for an adult.
If there are words or terms in this information that you don’t understand, please use our glossary which explains genetic and medical terms in plain English.
Jump to page contents
- How do I get a diagnosis?
- How to access NHS genetic services and testing for adults
- Genetic testing for adults | what to expect
- What is genetic counselling?
- How long does it take to get results from genetic testing?
- What can getting a diagnosis mean for me?
- Why are some conditions difficult to diagnose?
- Coming to terms with a diagnosis of a genetic or rare condition, or with not finding a diagnosis
- Your healthcare rights
Download our leaflets
In these leaflets you can find all the information from this page in simple PDF format. You can print at home, make notes and take them with you to appointments.
Leaflet 1
GP appointments | Accessing NHS genetic testing | Your healthcare rights
Leaflet 2
Genetic testing for adults - what to expect | Genetic counselling | How long does it take to get test results? | Your healthcare rights
Leaflet 3
What getting a diagnosis can mean | Why are some conditions difficult to diagnose? | Coming to terms with a diagnosis or lack of diagnosis | Your healthcare rights
How do I get a diagnosis?
If you have health concerns about yourself or someone you care for, it is a good idea to discuss them with your GP.
Your GP should listen and then discuss your concerns with you. They may do an examination and do some tests, such as taking blood or checking blood pressure. If they are unable to offer a diagnosis, they may refer you to other specialist healthcare professionals for their opinion.
If a genetic condition is suspected by your GP or specialist clinician, a referral to an NHS genetics service will be arranged for you. You can also ask for this referral to be made.
Your GP may also refer you to a nurse or a healthcare professional who can help with symptoms. For example, if there is muscle weakness then you may be referred to a physiotherapist. A physiotherapist is a healthcare professional who helps people using movement, exercise, massage, advice and other techniques. Nurses and healthcare professionals may be able to help you obtain a diagnosis.
Genetic services offer a range of care and cover agreed areas nationally. More information on Regional Genetic Services is on our website.
In some cases, it might take some time to find a medical diagnosis. This can be due to symptoms being common in a number of different conditions, making it difficult to know which condition you may have.
- Before the appointment, it is a good idea to think about what your GP needs to know. They will want to know about symptoms, when they started and how often they happen. It is also helpful to explain how the symptoms feel and how they are impacting your life. It is important that you tell your GP about all the symptoms, even if you may find them embarrassing to talk about.
- Some people with rare conditions find it helpful to record symptoms in a diary. There are also apps available for smartphones which can help you track symptoms.
- If any family members have had similar symptoms and experiences, or if there are conditions that are common in your family (such as heart disease or muscle weakness conditions), you may want to tell your GP about them.
- If you suspect that you may have a particular rare condition, tell your GP.
- Tell your GP if a family member has already been diagnosed with a known genetic condition and if genetic changes were identified by specialist testing.
- Remember to tell your GP about any other existing health conditions and tell them about any medicines currently taken or that have been taken in the past.
- It’s OK to ask for an interpreter if you need one. It is important to arrange this before the appointment.
- During the appointment, if you don’t understand something then ask your GP to explain or write it down for you. It’s OK to ask your GP to repeat something you haven’t heard or understood fully.
- You might want to take some notes during the appointment, or maybe even record the discussion on your phone to review later. It is important that your GP agrees to you recording the appointment, so always ask first.
- If you feel you need support during the appointment, you can take a friend or family member with you.
- At the end of the appointment make sure you are clear about what the next steps are, what you are expected to do (for example, you might need to phone for test results) and what your GP is expected to do. You can ask your GP to write down a summary of what will happen next.
- Hopefully, you will feel that your GP has listened to you and is taking action to find out what is causing the symptoms. However, if you feel that your GP hasn’t listened to you or has ignored the information you have given them, you can ask for another opinion. The Patients Association has a helpful guide on seeking a second opinion.
- Remember, it can take a long time to receive a diagnosis. The ‘diagnostic odyssey’ is a term used to describe the time between first symptoms and receiving a final diagnosis. This time can be challenging and worrying, but there is support available. Rareminds Wellbeing Hub has sections on diagnosis, uncertainty, difficult feelings, navigating healthcare and sources of support.
How to access NHS genetic services and testing for adults
There are genetic services and tests available through the NHS.
To get a genetic test on the NHS, your doctor must think it is likely that you have a genetic condition or that you could pass a genetic condition on to your child. A doctor might ask for information about things like family history of genetic conditions or any symptoms that you have.
If you think you might have a genetic condition or that you might pass a condition onto your child, it is important to speak to doctors so that you can be assessed for NHS testing. This ensures that the most appropriate genetic test is undertaken and the results are explained to you by the doctor who arranges the test.
If you are referred to NHS genetic services, you might speak with a genetic counsellor. These are skilled professionals who you can talk to about genetic condition diagnosis, such as the risks and benefits of a genetic test and exactly what it would mean for you and your family to get a diagnosis or not.
Genetic services offer a range of services and cover agreed areas nationally. Our website has information on Regional Genetic Services as well as information on direct-to-consumer genetic testing.
Depending on your situation, the first step to getting a genetic test on the NHS is usually to speak with your GP in order to get a referral to genetic services. If you have family members who are already diagnosed with a condition, it might be that you can speak to genetic services directly.
Genetic testing for adults | what to expect
It is important to consider the range of genetic services and tests that might be available in your situation.
There are lots of reasons why someone might get a genetic test, including:
- Your doctors think you might have a genetic condition and they want to do a genetic test to find out
- People in your family have a specific genetic condition which might mean that you also have it
- You are pregnant and a genetic test could reveal if the baby has a genetic condition
There are different types of genetic tests available through the NHS. These include:
- Diagnostic genetic tests are for when doctors think that someone might have a genetic condition based on symptoms that they have. Depending on the symptoms or circumstances, the test might check for a single specific genetic condition or for many different conditions.
- ‘Carrier’ genetic tests find out if someone carries a genetic change but might not have the condition themselves. These conditions are called ‘recessive’. If a person carries the genetic change, there is a chance that they will pass it onto any children that they have but the child will only usually have the condition if the genetic change is passed to them by both the mother and father.
- Predictive genetic tests tell us whether someone is likely to develop a specific genetic condition in the future even when they have no symptoms when they are tested. This is usually done when someone else in the family has already been diagnosed.
- Pre-implantation genetic testing (PGT) is something that can be done as part of an in vitro fertilisation (IVF) procedure. It is used to help people who have a high likelihood of passing on a severe genetic condition to their child.
Your doctor will discuss which type of genetic test is most appropriate with you.
You can read more about the benefits and disadvantages of genetic testing in our guide to genetic services and testing.
After being referred to an NHS regional genetics service you will usually be sent a leaflet or letter explaining what will happen when you attend the clinic for your appointment.
Before your appointment, it can be helpful to think about the history of the symptoms you currently have or have had in the past. Listing your symptoms and how they affect you can help your doctor build a picture of your symptoms.
It may also help to have a list of any medications you are taking and have taken in the past.
You may wish to take along a family member or friend for support at the appointment. They may help you to remember parts of the appointment that you miss.
It’s OK to ask for an interpreter if you need one. It is important to arrange this before the appointment.
- Before attending appointments, it is a good idea to write down any questions that you want to ask when you are there, so it can be useful to take a notebook with you.
- Some people record the appointment on their phone so that they can listen again afterwards. You should 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 healthcare professional to write them down for you to look at again later.
Often at the start of the first appointment, you will be asked what you are hoping to find out, for example:
- A diagnosis
- How you might be affected in the future
- If any current or future children could be affected
- Whether other members of your family could be affected
Most of the appointment will be spent collecting information to help with the ‘genetic assessment process’. This is a diagnostic process where clinical geneticists (doctors who specialise in diagnosing and managing genetic conditions) work with laboratory staff and other medical professionals to explore the possible reasons for your symptoms.
There are several different types of possible genetic changes. The cause of the condition might be a change in a single gene, or it might be that a chromosome has a piece missing (deletion) or an extra piece (duplication), or it may be that pieces of chromosomes have ‘swapped around’ (translocation).
Finding the genetic cause of symptoms can happen through a combination of investigations:
- Asking about your symptoms
- Asking about your family medical history
- Physical examination potentially including photographs
- Laboratory investigations (if necessary, blood samples are taken during the appointment or shortly afterwards)
- Taking measurements, doing scans, etc.
Asking about your symptoms in detail
The history of the symptoms you currently have or have had in the past is a key part of the assessment. You may want to think about this before your appointment and make a list. Focusing on these things can sometimes feel upsetting, but it can build a picture of your symptoms.
It can be frustrating having to repeat your medical history to yet another professional, but this is a very important part of the assessment.
Asking about your family medical history
It is likely you will be asked about your family history to see if patterns can be found that might give clues to the cause of your symptoms.
You might find it difficult to describe your family history if you were adopted or you have little contact with extended family members.
Family history is important because if the condition is genetic, then it may be the result of changes in genes or chromosomes that were passed down from one or both parents. However, many conditions can occur for the first time in a child, even when they are genetic. This is called ‘de novo’.
Sometimes it may be possible to make a diagnosis based on these historical descriptions alone without the need for genetic testing.
Physical examination potentially including photographs
The aim of a physical examination is to identify any physical features that might give a clue about a possible diagnosis. Photographs may be taken with your consent for your health record.
The healthcare professional performing the examination should explain why the examination is needed and take steps to make sure you feel comfortable throughout the process.
Laboratory investigations
Once the healthcare professional has an idea about a potential diagnosis, they may order laboratory tests to try and confirm the suspected diagnosis.
Samples of your DNA will be taken to test and look for changes. The samples needed can vary and may include blood, saliva or skin. Other tests may include a scan of the kidneys or heart, x-rays or a specialist eye test.
The DNA samples will be sent to the laboratory which will then analyse and interpret the results.
After the appointment
The genetics professional you see will usually write to you after the appointment summarising what was discussed and what is planned so you have a written record of the appointment.
There can often be a long wait for results. Learn more about genetic testing by visiting the ‘genetic services and testing’ section of the our website.
I felt I had been going around in circles with symptoms that were not being believed or understood for years, however once I saw the right person everything went smoothly in relation to diagnosis and genetic testing.
Participant, Rare Experience 2020 Survey
You may find it helpful to read this guide from Unique that explains what happens during a clinical genetics/genetic counselling appointment. Unique are a charity who provide support, information and networking to families affected by rare chromosome and gene disorders.
What is genetic counselling?
You may be offered genetic counselling as part of your genetic testing. Genetic counselling is a service that provides support and information on genetic conditions.
Genetic counsellors are highly trained healthcare professionals who are skilled at helping you think through what having a genetic test or being diagnosed with a genetic condition might mean for you and your family.
It may involve:
- Learning about a health condition that runs in your family, how it is inherited and how relatives may be affected.
- An assessment of the chance of your child(ren) having an inherited condition.
- A review of the medical history of your family and drawing up a family tree.
- If relevant, going through options that might be available to you in terms of testing a future pregnancy (also referred to as a prenatal diagnosis). This is a very personal choice and you will be fully supported in whatever decision you make.
- 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 support groups.
- Being given clear, accurate information so you can decide what are the best options for you.
How long does it take to get results from genetic testing?
Genetic tests are complex and it can take a long time to get the results back from genetic testing.
It is worth asking whether there are any relevant research studies carrying out genetic testing, but there is no guarantee that this would return results more quickly.
Sometimes it is not possible to undertake genetic testing straight away.
In these situations, you will usually be invited back for follow-up appointments several years later when there could be more information because your condition may have developed further, new medical knowledge has come to light or a new test has become available.
This period is usually called ‘watchful waiting’. It can be frustrating and worrying waiting for answers. It can be helpful to ask your healthcare professional to explain how and when they will provide you with updates.
Genetic testing can take a long time and you may have to wait several years for any result. There are organisations that can support you while you wait. Rareminds Wellbeing Hub has a ‘Navigating Healthcare’ section with guidance on appointments and waiting.
What can getting a diagnosis mean for me?
A diagnosis can be important on a practical and emotional level. Having a genetic diagnosis can help you to:
- Understand your condition and have a sense of how the condition may affect you or your family in the future
- Identify any health issues that need to be monitored
- Make informed care decisions, including identifying appropriate services, potential treatments and relevant clinical trials
- Understand whether others in your family will be affected by the condition and help with family planning decisions
- Access services and support for your needs, for example workplace support or social care services
- Find support organisations to help provide information, support and reduce feelings of isolation
- Explain to other people in your life about your health condition
However, a diagnosis does not always mean things will change. You may find that your care plan remains the same and you may continue to be supported by the same healthcare professionals.
Wanting a diagnosis is not about expecting a cure or a magic wand… but knowledge is power.
SWAN UK community member
If you have received a diagnosis of a rare condition, you may feel disappointed with the information you receive. For many rare conditions, information about the condition and its prognosis (the likely course of a medical condition) may be limited and you may find that you still have unanswered questions.
I wasn’t expecting a cure, I knew a genetic condition was lifelong, but I was expecting an understanding of what it meant… what I got was a string of letters and numbers.
SWAN UK community member
Having a diagnosis can help healthcare professionals better understand your condition. It can also help healthcare professionals to find the information they need to support you.
Getting my diagnosis was in many ways reassuring as at least I knew what I was actually having to deal with and how I could start to adjust to life with my rare condition.
Patient and Public Involvement representative
It is important to acknowledge that not everyone will receive a diagnosis. Some people may not be able to access the tests necessary to identify their condition, while others may be affected by a condition that is so rare it is yet to be understood by science. Without a diagnosis, you should still be able to access services and support based on your needs. For example, social care services and workplace support are intended to be provided based on a person’s needs, not their diagnosis. Information on getting a needs assessment can be found on the NHS website.
Receiving a diagnosis of a rare genetic condition will never be easy. Discovering that you or your loved one has a health condition that might be life changing or life limiting is likely to be an emotionally challenging experience.
Why are some conditions difficult to diagnose?
Genetic conditions can be difficult to diagnose. There are three main reasons for this:
- It is the ‘rarest of the rare’ – a condition that hasn’t been seen before and therefore there is not a test for it.
- It is an unusual presentation of a known condition – your symptoms might be different to those of other people with the same condition. The condition is therefore not tested for because it doesn’t appear to be that condition.
- Genetic changes are found which are of ‘unknown clinical significance’. This means that changes are found in someone’s DNA or genetic make-up but these might not be the cause of their health concerns. The meaning of the result is unclear.
Trying to get a diagnosis can be a worrying time. There are people in your life, healthcare professionals and organisations that can help you.
Your GP, health visitor or specialist clinician can talk you through the journey to diagnosis. They can provide you with information on the process and information on where to seek support. You may be referred to a specialist nurse or genetic counsellor who can work directly with you and your family to offer genetic information and support you to make decisions.
There are also patient groups and support organisations that can provide emotional and practical support for you and your family. On our website you can find an A-Z list of patient support organisations.
Coming to terms with a diagnosis of a genetic or rare condition, or with not finding a diagnosis
Wherever you are on your journey to diagnosis, coming to terms with the fact that you have a health condition can be difficult.
The news that you have or may have a genetic or rare condition can lead to a wide range of emotions.
Things felt less scary once we got a diagnosis.
Workshop participant
An undiagnosed label helps as a starting point – it’s difficult when you don’t know where you fit in to know what’s right for you.
Participant, Rare Experience 2020 Survey
Every person deals with diagnosis, or the news that they may remain undiagnosed, differently. There is no right or wrong way.
Finally getting a diagnosis was a huge help to my family and friends as they could then start to understand what to expect from me.
Patient and Public Involvement representative
Some people react to the news in a similar way to having a bereavement, others cope by learning all they can about the condition or focusing their attention on their specific needs.
Looking back, I guess I went into a state of grief when we got a diagnosis
Workshop participant
Reflecting on my diagnosis, initially I went into a state of disbelief, then a period of mourning the person I once was or aspired to be. Finally I achieved acceptance and started to be the new version of me.
Patient and Public Involvement representative
Sometimes you might want to speak to someone about how you are feeling. You can contact your GP, your local carers centre or support groups for advice on the help and counselling they may be able to offer.
Even if you receive a diagnosis, it won’t necessarily bring any answers. Once we finally received the diagnosis, we were plunged into a world of unknowns. It was a super rare disease and there was absolutely nothing in medical literature about the condition. We felt utterly alone. It was only when we managed to find a tiny Facebook group with other diagnosed families that we found a community. That was our lifeline in a sea of silence.
Genetic Alliance UK member representative
The journey of seeking a rare diagnosis and coming to terms with any outcomes can potentially be stressful. We all handle stress differently and you can contact your GP if you feel stressed or anxious – they will help with getting support.
Take your time
You don’t need to ask every question or learn everything about the condition all at once. Take your time to process information at your own pace and think about your feelings.
Talk
Talk to someone you are close to about the diagnosis and how you are feeling. If you don’t feel that you can speak to someone you know, try an organisation that provides a support helpline.
These services offer confidential support from trained volunteers. You can talk about anything that’s troubling you, no matter how difficult:
Call 116 123 to talk to Samaritans, or email: [email protected] for a reply within 24 hours
Text ‘SHOUT’ to 85258 to contact the Shout Crisis Text Line, or text ‘YM’ if you’re under 19
If you’re under 19, you can also call 0800 1111 to talk to Childline. The number will not appear on your phone bill.
These services will only share your information if they are very worried about you or think you are in immediate danger.
Find a support group
For some conditions there may be a support group available. Support groups can provide information about a condition. Support groups often have information on their websites and could put you in touch with people who have the same diagnosis.
Our website has information on support groups in our alliance. If you can’t find a relevant organisation then please contact us.
Unique also has a range of practical guides, as well as genetic condition specific guides. Even if they don’t have a relevant guide, you can join them and request further information. You can also join their private Facebook café to interact with people who have had or are having similar experiences.
Online forums
The internet is home to lots of virtual areas for people to meet and talk about their experiences with genetic, rare and undiagnosed conditions.
Be aware that content in online forums and social media may be opinion rather than factual. It’s also important to remember that information on online forums may not be accurate, or relevant, to people living in the UK. Ensure you check the quality and suitability of what you read in online forums and on social media.
As a free, informal platform Facebook is home to a number of online support groups. It can be comforting and helpful to talk to someone with the same condition – someone who has had similar experiences.
You don’t need to have a Facebook account to search for groups, although if you do find a relevant group you will need to sign up to Facebook to join and talk to people. If there isn’t already a Facebook group for your condition, you can always set one up for the next person who is searching for one. It can be a great way to connect with others directly.
Research
For some people, it can be helpful to find information on and research the condition. Your genetics professional or another specialist may be able to update you on research trials that are already underway or are planned for the future.
There are also several websites with information on research into rare conditions:
Speak to other people
For some people, speaking to individuals living with the same condition can be reassuring and helpful. Support organisations can help to connect you with other people.
Rareminds Wellbeing Hub has sections on diagnosis, uncertainty, difficult feelings, navigating healthcare and sources of support.
The NHS Mental Health website has lots of guidance and support for your mental health.
Mind’s Information and Support website hub has lots of advice and also shares details of their helplines.
Unique also has a range of practical guides, as well as genetic condition specific guides. Even if they don’t have a relevant guide, you can join them and request further information. You can also join their private Facebook café to interact with people who have had or are having similar experiences.
Your healthcare rights
Sometimes people report that they are not happy with the support they have received on their journey to diagnosis. This might be because people don’t feel they have been listened to, or their wishes have been ignored. Sometimes it is because important steps in the process have not been clearly explained or communicated.
In England, the NHS Constitution sets out the rights you have as a patient of NHS services. You have the right to be involved in decisions that affect you and NHS staff should treat you with kindness, dignity and respect. You have the right to complain if things don’t go as you expect.
For information on how patients can give feedback or make a complaint about NHS care or treatment, see the NHS website for guidance on how to complain to the NHS. It includes information on the complaints arrangements, and what to expect when making a complaint.
These resources have been developed with funding from our industry partners, Novartis.
We’re also hugely grateful to the Patient and Public Involvement Group, Clinical Advisory Group and Project Steering Group who reviewed and helped to shape these resources.