This information has been prepared for patients and families who have an appointment to see a genetic specialist. The aim is to give you some information about why you have been referred to see the specialist, and what you can expect to happen during your appointment.
Some of the reasons for being referred include:
There are several ways that the specialist may be able to help you. Some of these are:
It can be helpful for the specialist to have medical details about other people in your family, including those affected by health problems which may have a genetic cause.
Please bring the following details of family members as far back as your grandparents generation. Write them in the spaces provided.
|Relationship to you e.g. mother, uncle, ...||Full Name||Date of Birth (and date of death if relevant)|
If appropriate make a note of:
For affected family members you may be asked for their address and their family doctor s name and address.
We understand that it is not always possible to give these details. Information provided by you will be treated confidentially and will only be shared with other relatives or health professionals involved in your care with your permission. Relatives will never be contacted without your permission.
Bring any questions or concerns with you to your appointment write them down. You might also want to bring your partner or another relative or friend with you. If you need an interpreter, let the department know.
After the appointment it is likely that you will be sent written information that covers the topics that were discussed. This will help you to remember everything. You might also want to show the written information to other members of your family. Ask the specialist whether written information will be given to you and how soon you can expect it to arrive.
Write any questions you have here:
More information can be obtained from your local regional genetics centre ( www.geneitcalliance.org.uk/services.htm ) or from these addresses:
Unit 4D, Leroy House,
436 Essex Rd.,
London, N1 3QP
Telephone: 0207704 3141
Provides information about specific genetic conditions and contact details of support organisations.
Information for patients
Free-access website providing information about genetic testing and links to support groups across Europe.
Free-access website providing information on rare diseases and orphan drugs, and links to support groups across
Modified from leaflets produced by Guy’s and St Thomas’ Hospital, London; and the London IDEAS Genetic Knowledge Park, according to their quality standards.
This work was supported by EuroGentest, an EU-FP6 supported NoE contract number 512148