Information for Patients and Families
- The BSGM does not provide information on
specific genetic conditions.
- The BSGM cannot give medical advice to
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
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
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
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
umbrella group listing many UK patient support groups.
Mendelian Inheritance in Man (OMIM) - complete, but technical,
database of all human genetic conditions.
Kansas's excellent Genetics educational resources page.
MendelWeb - general
DNA from the beginning - A
series of introductory genetics tutorials, includes videos and
HUGO - the Human
CancerNet - information
about Cancer Genetics from National Cancer Institute in USA