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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 details of family members as far back as your grandparents’ generation. Write them in the spaces provided in the table in the attached leaflet.
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 – it is a good idea to 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.
First published in January 2007. 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
Reviewed and updated January 2017 with help from Prof. Shirley Hodgson, Emeritus at St. George’s, University of London and members of SWAN UK (syndromes without a name) and Genetic Alliance UK.
To be reviewed January 2020.