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Clinical Genetics: FAQ

Why are people referred to clinical genetics?

There are many reasons why people are seen in clinical 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 physical and/or learning 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 if my GP thinks I may have an increased risk of cancer?

Your GP may decide to refer you to the Oxford Regional Genetics Service. Before you can be referred to the Service, your GP will ask you to complete a family history questionnaire. This questionnaire asks about your family tree and the cancers that have occurred in your family. We need this information so we can decide whether you are at increased risk yourself and whether genetic testing is possible.

Please take your completed questionnaire back to your GP so that your GP can refer you to us – your completed family history questionnaire must be accompanied by a referral letter from your GP.

• Cancer questionnaire (Word)

Sometimes we can provide an answer by letter to your GP, in which case there is no need for you to be sent an appointment. More commonly, we would need to see you, to discuss what your family history of cancer means for you.

It is often necessary to confirm certain details about a person's cancer by checking their medical records. In this case, we would ask you to contact your relatives to seek their written permission. We understand that this can sometimes be difficult, but the more information we have, the more accurate our assessment will be. Please note that we do not contact any of your relatives directly, or access the medical details of surviving relatives without their permission.

What happens at a clinical genetics appointment?

An appointment in a clinical genetics clinic is similar in many ways to any hospital appointment. However, due to the nature of the patients which we see, there are some differences. Please check with the doctor who referred you (either your GP or hospital specialist) if you are not clear about the reason for your appointment.

Genetic counselling involves three main steps:

1. making an accurate diagnosis
2. describing the consequences of the disorder and the probability of developing and transmitting it
3. discussing the ways in which this may be prevented or managed.

Usually only the consultant and/or genetic counsellor will be present during the clinic session; occasionally a doctor in training may also be present. It is very unusual for anyone else to be present, and of course families will be asked for their permission. Genetic clinic appointments are generally for 30-60 minutes.

After the clinic it is usual for a letter to be sent to the patient outlining the discussion in the clinic, with copies of this letter to the referring doctor, GP and any other clinicians involved (for instance, paediatricians, obstetricians).

Ongoing follow-up of families

Many families are seen only once in the genetic clinic, although they may always be re-referred if they wish to be seen again. For some diseases it is vital that the family is reviewed, for instance to organise carrier detection tests when a child reaches a particular age. Patients and families give permission for us to contact them at the appropriate time so that family members can seek referral for genetic counselling and carrier tests where appropriate.

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 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 and this information is not a substitute for genetic counselling. 

The British Society for Human Genetics (BSHG) considers the following links to be from reputable sources, and appearing 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. They urge everyone to treat any information obtained from sources on the Internet with caution.