About your Clinical genetics appointment

If, for whatever reason you are unable to attend your clinical genetics appointment, please let us know as soon as you able to do so.

Please contact the Central Booking Office at Great Ormond Street Hospital on 020 7829 8880 as soon as you can.

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.

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, please do 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) or a genetic counsellor. Genetic counsellors are healthcare professionals with training and expertise in clinical genetics and counselling and communication skills specific to families with genetic conditions.

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 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, or whether they have had a genetic diagnosis). 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 or genetic counsellor will explain any genetic findings, or any genetic testing available to you, and discuss all the options.
• You will be encouraged to ask questions, and to make your own decisions. The doctor or genetic counsellor will help you with this, but will not tell you what to decide.
• If you are making decisions about whether or not to go ahead with genetic testing, or learning more about a new diagnosis, this may be a good opportunity to share your thoughts and feelings. It may be that there are solutions or places for further support that can be recommended to you.
• You may also talk about your family members, and what impact a genetic diagnosis could have for them.
• In some situations, tests (such as blood tests) may be offered. Some tests are available on the day, but depending on the nature of the genetic test you may need or wish to take some time to consider your decision before going ahead.
• At the end of the appointment a plan may be made for further information gathering (by you, the doctor or genetic counsellor), specialised 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.

We encourage patients and parents to sign up tp MyGOSH, our online portal for parents and carers.

MyGOSH is a safe and secure online portal that enables children, young people and families to have access to specific parts of the electronic patient record at Great Ormond Street Hospital (GOSH). This means everyone can manage their health and care wherever they can get online.

With MyGOSH you can:

• review and reschedule certain appointments as well as accept earlier appointment offers
• look at the health summary – this is taken from your electronic patient record so is always up to date
• communicate securely with the medical and administrative teams
• view your Clinical Genetics clinic letters

Find out more about MyGOSH and how to register for the portal.