Information for Patients and Families

Please Note:

  • The BSGM does not provide information on specific genetic conditions.
  • The BSGM cannot give medical advice to individuals.

If you feel that you need a Genetics Consultation in the UK, you should contact your family doctor (GP) or, if you are being seen in a hospital speak to your specialist, who will be able to refer you to your Regional Genetics Service.

Outside the UK, services vary between countries, and you should check with a medical practitioner locally.

Why are people referred to Medical Genetics?
There are many reasons why people are seen in Medical Genetics clinics. Some common reasons are: ·

  • A person with a known genetic condition in the family, wanting to know the risks to themselves and/or their children ·
  • Parents of a child with difficulties which may be due to a genetic condition, referred to see if a diagnosis can be made. ·
  • A person with a strong family history of cancer, wanting to know if they are at increased risk, and if they are what options they have. ·
  • A person with a known genetic condition wanting specialist advice about the condition . ·
  • A person with a possible genetic condition in the family wanting to know if a diagnosis can be made, and if so, their risks and options. ·
  • A pregnant couple told that a test has given an abnormal result, wanting to talk about what the result means, and what options are available.

What happens at a Medical Genetics appointment?
An appointment to a Medical Genetics clinic is similar in many ways to any hospital appointment. However due to the nature of the conditions which we see, there are some differences. If you are not clear about the reason for your appointment, check with the doctor who referred you (either your GP or hospital specialist).


What is genetic counselling?
This is often a misunderstood term, and although opinions vary within the profession about the exact definition and scope of genetic counselling, there are some generalisations with which most people would agree. ·

  • Genetic counselling is not primarily "counselling" in the psychological sense. Although the counselling must be sensitive to the emotional and psychological issues raised during a consultation, genetic counselling is not a form of psychotherapy. ·
  • Genetic counselling is practiced in a non-directive manner. This means that you will not be 'directed' or told what decision you should make. Genetic professionals are NOT in the business of trying to persuade people. Our role is to try to explain the facts as clearly as possible, giving the person or family accurate information on their options in a way which they can understand, and helping them to make up their own minds.

Where can I learn more?
If you have specific questions about your health, or the health of your family, you should speak to your own doctor in the first instance, who will either be able to answer your questions themselves, or refer you to someone who can.

For more general questions, there are many excellent sources of information and support on the Internet.

Much of the information available is very good. However, some is out of date, inaccurate or biased; some is just plain wrong; and occasionally information is published maliciously to mislead deliberately.

Remember that there is no quality control on most of the information published on the Internet.

The following links are from reputable sources, and appeared to give good quality information at the time they were reviewed. However, the BSHG has not reviewed all the contents of every link, and has no control over content on these links. We would urge you to treat any information obtained from sources on the Internet with caution.

Contact-a-Family - umbrella group listing many UK patient support groups.

On-Line Mendelian Inheritance in Man (OMIM) - complete, but technical, database of all human genetic conditions.

University of Kansas's excellent Genetics educational resources page.

MendelWeb - general genetics information

DNA from the beginning - A series of introductory genetics tutorials, includes videos and animations.

HUGO - the Human Genome Organisation

CancerNet - information about Cancer Genetics from National Cancer Institute in USA