Clinical Genetics: FAQs
Your referral
Your doctor has asked us to see you and sent us some information about you.
Your doctor is wondering if there is a genetic problem in you, your child or your family. If you do not know why your doctor referred you, you can check with your doctor or we can discuss when we see you.
We look at all the referrals we receive. Around 40 percent of patients referred with a family history of cancer, and some with other genetic conditions in the family, will not need to be seen. They will receive a letter from us detailing what steps they need to take.
We cannot see people who have not been referred. If you think you have a genetic problem, please speak to your GP or doctor and ask for a referral.
Waiting times
We try to see patients within 18 weeks but it may be longer. If you have been waiting a long time, we may find you a clinic a bit further from your home, or offer you an appointment that someone else has cancelled at short notice.
We try to see young children as quickly as possible, and if people are ill or very worried we prioritise them.
It is helpful for your doctor to provide us with an up to date phone number so we can call people to arrange an appointment.
If you feel you cannot wait please contact us.
Before your appointment
We will read your referral letter and try to gather any information that we need.
For cancer referrals we will process your questionnaire, calculate any risks to you and either answer your queries by letter or you will be seen by one of our team.
For referrals for children with a chromosome alteration (array abnormality) we will need samples from both parents and sometimes from the child before we see you. This is so that we have your results ready by the time we see you. If you are sent a request card, please ensure you have the blood taken as soon as possible by your GP practice nurse.
Your results are used to help interpret your child's result.
Your child's paediatrician will tell you if we need a repeat sample from your child.
We understand that it is not always possible to get blood from both parents; if this is the case, please have your blood taken.
If you need a translator, or have difficulty hearing, please tell us in advance and we will do our best to arrange appropriate help for you.
Your appointment
Who should come
If your child has been referred , we need to see your child, and it is helpful to see both parents. We realise this often means missing school / work.
For 'looked after' children, we ask to see the child with their carer, and in some cases we invite their social worker.
You might like to bring a friend or family member. Some people like to attend with grandparents.
If more than one family member has been referred we can, if appropriate see you together.
What to bring
You do not need to bring your medicines but please do bring a list. Please bring your child's red book.
Please bring any information about family members with specific genetic conditions (name, date of birth, diagnosis, test results).
Feel free to bring a list of questions and a family member or friend if you like.
We may need to examine you so please wear clothes that can be easily removed.
Cancellations
Please contact us as soon as possible and we will reschedule, or cancel your referral if it is no longer required. Please give us as much notice as you can, so we can offer the appointment to someone who is waiting.
If you fail to attend your appointment and do not contact us, you will receive a letter from us to say that you did not attend. We will not make another appointment for you unless you are re-referred, or there was a specific reason why you did not come.
At your appointment
We will see you in the closest clinic to your home if possible. For some of our very specialised clinics we will invite you to come to Oxford. We will do our best to see you at the appointed time. Sometimes there are slight delays but we will inform you if that is the case.
Each appointment is scheduled to take 45 minutes. Some appointments take a little longer though we try hard no to keep people waiting. Some appointments can be completed more quickly, in which case you are free to leave.
You will see a Consultant, doctor in training (Specialist Registrar) or a Genetic Counsellor. We are all qualified healthcare professionals; we often have a scientific background, but are not scientists.
We have medical students or doctors in training at some of our clinics; we will ask for your permission for them to be present.
You may see many members of a team, sometimes all at once or one after the other. We know that this can be daunting and we will do our best to put you or your child at ease.
We generally do not take blood in our clinics; if a test is needed, this can be arranged through the hospital blood-taking service, or with a nurse at your GP practice. Sometimes a saliva sample is enough.
Cancer referrals
We understand that you might be worried about your risk of developing cancer. We will do our best to answer your questions and address your concerns.
We will assess your family history, work out the risks to you and discuss genetic testing and screening.
After the appointment you will receive a letter summarising the discussion.
General / paediatric referrals
We understand that you are worried about your health or about your child. We will do our best to answer your questions and address your concerns.
We will discuss your family history and your health, possibly examine you and/or your child and we may take photographs for the record. We will explain any tests or diagnosis.
After the appointment you will receive a letter summarising the discussion.
You may feel anxious if your child has a condition such as autism, or issues around their behaviour - please do not worry. We are used to seeing people with many varied conditions or difficulties, and will do everything we can to put you and your child at ease.
After your appointment
We will send you a letter summarising your clinic appointment around two to four weeks after it has taken place. If you don't receive it after four weeks, please contact us.
Research
We see many patients who benefit from research into the genetic cause of a condition. If we think you might be suitable and you are interested we will discuss this with you in clinic.
You do not have to take part and this is not the main purpose of your appointment. Your appointment is for your benefit and is to help you.
Research
Genetic testing
We will arrange this with you in clinic. We may need to see you, write to you or ring you.
Genetic testing is complicated and is often slow. It may take two to six months for a test result in some cases. In other cases it can take a lot longer. Your doctor or counsellor will tell you in clinic how long your test will take. Unfortunately we are unable to speed up the process.
We will keep your other doctors and GP informed of your results unless you ask us not to for a specific reason. We try to avoid emailing results as this is possibly not a confidential method.
You do not have to have genetic tests - we offer tests to many of our patients, but you are not under pressure to have a genetic test if you do not think it is right for you.
Questions
You may have more questions about genetic testing, for example, what effect it may have on your insurance, or if there are further risks associated with your condition.
Please make a list of your questions, and we will address them when we see you in clinic.
If you have a query about a genetic appointment in your local hospital please contact us as we will have booked it.
Further information
If you have specific questions about your health, or the health of your family, you should speak to your own doctor in the first instance, who will either be able to answer your questions or refer you to someone who can.
We do not do:
- paternity testing
- discussion of results from an 'over the counter' genetic test
- ancestry testing.
Some of our staff see private patients; please contact us if you would like to learn more.
Links
There are many excellent sources of information and support on the internet. Much of the information available is very good, however some is out of date, inaccurate or biased, some is just plain wrong and occasionally information is published maliciously to mislead.
Remember that there is no quality control on most of the information published on the internet, and this information is not a substitute for genetic counselling.
The British Society for Genetic Medicine (BSGM) considers the following links to be from reputable sources, and appearing to give good quality information at the time they were reviewed.
However, the BSGM has not reviewed all the contents of every link, and has no control over content on these links. They urge everyone to treat any information obtained from sources on the internet with caution.
COVID-19 update
Genetic Alliance UK COVID-19 information hub
Interactive online patient tool for people with rare diseases to better understand their risk of COVID-19
British Society for Genetic Medicine, the Clinical Genetics Society and Aimes
General advice regarding Coronavirus (COVID-19) for patients with rare genetic disorders - Unique
Information on COVID-19 for people with rare disorders, including rare chromosome and gene disorders, as British Sign Language videos
Last reviewed:18 September 2023