East Anglian medical genetics service

The East Anglian medical genetics service provides help with the diagnosis and management of genetic disorders. The service also provides support and information for patients and their families.

Your appointment will be 45 to 60 minutes long and you will meet with a member of the genetics team. This may be in person, on the telephone or via a video consultation, depending on what is considered necessary. There is a high demand for appointments so please would you contact the appointments team on 01223 586828 if you are not able to attend.

If you have any questions, please do not hesitate to contact us. Details of your clinic appointment are on the enclosed letters.

Thank you for your co-operation.

Your appointment at the genetics clinic

What happens at a medical genetics appointment?

Most people are referred so that a member of the genetics team can answer their questions about a genetic condition affecting them or other members of their family.

Typical reasons for referral include:

• There is a genetic condition in your family and you want to know the possible risks to yourself or your children.
• You are worried about a family history of cancer and want to know whether you are at increased risk and, if so, how you can minimise this risk.
• Your child had a medical condition or learning difficulty that may be caused by a genetic condition. Full assessment will help to provide care for your child and advice about whether other children in your family may be affected.

What happens during an appointment will vary depending upon the reason for referral. However, most appointments will include:

• Discussion of the problem that has led to the referral.
• Drawing of a family tree to include the medical details of relatives such as their diagnosis and, for deceased relatives, the cause and age of their death. It is very useful if you can make a note of these details before you come to the clinic or can bring a relative who knows the details with you.
• A medical examination may be carried out on one or several family members. If the appointment is for a child, the child will usually need to be present.
• The doctor or counsellor will explain their findings and discuss with you whether you should consider any investigation or treatment.
• You will be encouraged to ask questions and to make your own decisions. The doctor or counsellor will help you with this but will not tell you what to decide.
• In some situations, tests (such as blood tests) may be offered. Some tests are available at the first appointment but often you will be asked to take time to make a decision and then to come back for the test another day.  At the end of the appointment a plan may be made for further information gathering, special tests or another appointment.
• Afterwards you usually will be sent a letter going over what was discussed at your appointment. If anything in this is unclear, you should contact the clinic again.