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.

Why have you been referred to see the specialist?

Some of the reasons for being referred include:

  • You or your partner have a child with learning difficulties, developmental delay or health problems.
  • Your doctor thinks there may be a genetic link.
  • You or your partner have a genetic condition that might be passed on to your children.
  • You have had another type of test during pregnancy, such as an ultrasound, nuchal
    translucency scan or blood test. It shows that there is an increased risk that your baby has a genetic condition.
  • You or your partner have had a miscarriage or stillbirth.
  • Particular types of cancer have occurred in several close relatives.
  • You and your partner are blood relatives and would like to have a baby.
  • Your doctor believes that a genetic specialist may be able to provide you with additional information about your current health.

How will you be helped?

There are several ways that the specialist may be able to help you. Some of these are:

  • Explaining the types of test available that will help confirm a diagnosis.
  • Making or confirming a diagnosis.
  • Providing information about the condition and how it is passed on.
  • Discussing the risk that you may be affected by the condition in the future.
  • Discussing the risk that future children may be affected with the condition if it already occurs in your family.
  • Talking about ways of living with the condition and the medical and social support available to you.
  • Answering any questions you may have about the condition diagnosed.

Before your appointment

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.

If appropriate make a note of:

  • Their genetic diagnosis and details of any other health problems and the age at which they were diagnosed
  • When and where they were diagnosed or treated

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.

Useful links
undiagnosed.org.uk/support-information
bit.ly/cafamilygeneticsappointment
bit/ly/beforeappointment
bit.ly/geneticscentreoutcomes
bit.ly/whathappensatappointment
bit.ly/nhsgenetictesting 
yourgenome.org
undiagnosed.org.uk/join

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.

 

 

 

 

 

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