What happens at a Clinical Genetics appointment?
You may be referred to your regional genetics service by your GP, paediatrician or other specialist doctor as part of their assessment of you or your child. However, you can ask for an appointment by self-referral if there is a genetic condition in your family and you are planning a pregnancy or are concerned about whether you could have inherited the condition or whether you could pass it on.
Who will I be seen by?
Your appointment letter should tell you who it is you can expect to be seen by in clinic. When you have your appointment, you may be seen by a specialist doctor called a Clinical Geneticist, or you may speak to a Genetic Counsellor, Genomics Associate or Family History Co-ordinator. They will gather your family health history and if appropriate they will explain what causes the genetic condition and go over how it is inherited. Genetic conditions can be inherited in different ways but can also be new in the individual. They will also discuss what genetic testing is available, what this would involve and what the results might mean for you.
If you are being seen in Clinical Genetics, it is quite likely that you will be seen by a Genetic Counsellor at some point. Genetic counselling is not counselling in the psychological sense. Their role is to provide you with accurate information about the options available to you, and to help you to understand and support you, so that you can make the decisions that are right for you. Genetic counselling is practiced in a non-directive manner. This means that you will not be 'directed' or told what decision you should make.
How long will the appointment last?
Your appointment is likely to be about 45 minutes long. It does vary between regional centres. You can bring a relative, friend or advocate with you, if they wish. You may be offered a video appointment, or it may be possible to request one if you have significant difficulties attending clinic. However, some appointments will include a physical examination by a doctor and these will require attendance in person.
How to prepare & what to take with you
A list of questions and concerns.
Dates of birth of family members
Ask a family member or support person to accompany you, if this is what you feel you need.
What happens at the appointment?
The details of your appointment will vary depending on the exact reason for which you are being seen, but it will often include:
The reason you are attending clinic will be discussed in detail.
You or child’s medical history will be taken.
A family tree will be drawn, including medical details of relatives such as relevant illnesses or the cause and age of their death. It is useful to have looked up these details before you come to the clinic, or bring a relative who will know. Sometimes this stage is carried out over the telephone or by sending you a booklet to complete before you attend clinic.
A medical examination may be carried out but this is not always the case.
Based on the information given and the medical examination (if needed), the healthcare professional will explain their findings to you and the likelihood of an inherited genetic change being the cause of the symptoms.
They will discuss all the options from this point. This will include the value of genetic testing in your case – what it will give you and what it won’t!
You will be given an explanation of the process of genetic testing. In some situations, genetic tests (carried out on a blood sample) may be offered that day. You will usually be asked to attend the phlebotomy department to have your sample taken but sometimes this can be taken in the Genetics department. N.B. You will not get the results that day.
The healthcare professional will cover implications for insurance and privacy.
You will be encouraged to ask questions, and to make your own decisions. The healthcare professional will help you with this but will not tell you what to decide.
Although you may be asked if you know your decision regarding genetic testing on the day, for some conditions you will be asked to take some time to make a decision and to come back another day.
You may discuss the potential impact of results on your family members, including who might you need to tell if there are health implications for blood relatives.
At the end of the appointment a plan may be made for further information gathering (by you or the Clinical Genetics team), special tests, or another appointment.
What happens after the appointment?
Afterwards you will be sent a letter going over what was discussed in the appointment. The test results can take several months to arrive. You will have been told how long to expect in your appointment.
If you go through the genetic testing process outside of the Clinical Genetics department (e.g. with a specific medical team in a hospital such as the neuromuscular service or oncology), they will give you your genetic test results. After this, they may refer you to (or you can ask to be seen by) a Genetic Counsellor in your Regional Genetics service. This will give you an opportunity to go over the wider implications for your family, if necessary. This may include offering genetic testing to some of your other close relatives if there is a risk they could be carrying a disease-related genetic change in their DNA. You may be given a ‘To Whom it may Concern’ letter to pass on to your relatives for them to inform their own GP and manage their own care.
Are you looking for more direct support, or want to belong to a wider rare disease community?
Our RAREhub and RAREnavigator services can help - in a way that suits you and your family.