About your Clinical genetics appointment

What to expect when you visit the Clinical Genetics Department at Great Ormond Street Hospital (GOSH).

Why have I been referred to Clinical genetics?

Some of the reasons why you might have been referred to clinical genetics include:

  • You have a known genetic condition in the family, and want to know the risks to you and/or your children.

  • You have a child with difficulties which may be due to a genetic condition, and want to see if a diagnosis can be made.

  • You have a strong family history of cancer, and want to know if you are at increased risk, and if you are what options are available to you.

  • You have a known genetic condition and want specialist advice about the condition.

  • You or your partner are pregnant and have a possible genetic condition in the family, you want to know if a diagnosis can be made and if so, your risks and options.

  • You or your partner have been told that a test in pregnancy has given an abnormal result, and want to talk about what the result means, and what options are available.

What happens at a Clinical genetics appointment?

A clinical genetics appointment 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 unsure about why you have been referred for a clinical genetics appointment, check with the doctor who referred you (either your GP or hospital specialist).

Most people’s appointments will have been made by a doctor who felt that particular questions needed answering which required the expertise of a clinical geneticist (a medical doctor who specialises in genetics).

Often you may be seen by a specially trained person who is not a doctor (called a genetic nurse, or genetic counsellor).

Most genetic appointments are 30 to 45 minutes long, so you should not feel rushed. Several relatives may attend an appointment together, if they wish.
The details of your appointment will vary depending on the exact reason for which you are being seen, but it will often include:

  • The problem that has brought you to the clinic will be discussed in detail.

  • A family tree will be drawn, and medical details of relatives may be asked about (such as the cause and age of their death). It is useful to have found out these details before you come to the clinic, or bring a relative who will know.

  • A medical examination may be carried out on one or several family members.

  • The doctor will explain their findings to you, and discuss all the options.

  • You will be encouraged to ask questions, and to make your own decisions. The doctor will help you with this, but will not tell you what to decide.

  • In some situations, tests (such as blood tests) may be offered. Some tests are available on the day, but often you will be asked to take some time to make a decision, and come back another day.

  • At the end of the appointment a plan may be made for further information gathering (by you or the doctor), special tests, or another appointment.

  • Afterwards you will be sent a letter going over what was discussed in the appointment. If anything in this is unclear, you should contact your Clinical Geneticist or Genetic Counsellor again.

Cancer Family History Form PDF: FH form (474.35 KB)

Cancer Family History Form Word DOC: FH form (122 KB)

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.

The role of a Clinical Geneticist or Genetic Counsellor is not to lead you to make particular decisions or choices. Their role is to provide you with accurate information about the options available to you, and to help you to understand and support you, so that you can make the decisions that are right for you.

What should I do if I cannot attend my Clinical genetics appointment?

If for whatever reason you are unable to attend your clinical genetics appointment, please contact the Central Booking Office at Great Ormond Street Hospital on 020 7829 8880.

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 information here is based on material from the British Society for Genetic Medicine.

This information does not constitute health or medical advice and will not necessarily reflect treatment at other hospitals. If you have any questions, please ask your doctor. No liability can be taken as a result of using this information.

For access to other websites which you might find useful, please go to our Support and information page.