What to expect at your first genetic counselling appointment

This page explains what to expect at your first appointment with the Rare Disease Genetic Counselling clinic.

This clinic is part of the North East Regional Genetics Service. It is based at Great Ormond Street Hospital (GOSH), but supports people of all ages, not just children. We also run clinics at other hospitals across London and Essex. Your appointment letter will clearly state where your appointment will take place.

You or your child may have been referred for genetic counselling, because there is a genetic condition in your family that affect you or your family member(s).

Genetic conditions are caused by a variant or "spelling error" in our genetic code that contains our “genes”, which tell our bodies how to develop and function. This variant can stop the gene from carrying out its usual role and can affect how the body develops or functions. Some conditions cause symptoms at birth, whilst others develop over time.

Depending on how the condition is passed down (inherited), an individual may either:

• Be affected by the condition and develop features of the condition.
• Be a ‘carrier’ of the gene and are not usually affected.

People who are affected by a genetic condition, and healthy carriers, can pass the gene on to their future children. Their children may then be affected by the condition or be carriers.

Genetic counselling involves talking with a genetics specialist to help assess and understand the risk of a genetic condition.

Genetic counselling is a communication process that helps individuals, couples and families understand and adapt to a genetic condition.

Genetic counsellors can provide information about a condition, discuss genetic testing and the implications of a result and signpost to support services.

Your appointment will last up to 45 minutes.

The appointment will either be face-to-face or via video/telephone call. If you are unsure, please check your appointment letter or contact us – our details are at the end of this leaflet.

We will be discussing personal and sensitive information in your appointment. If you are having a video/telephone call, please make sure you are in a quiet, private space, where you will not be disturbed and will be able to talk freely. If this is not possible, your appointment may need to be rescheduled.

If you would prefer your appointment to have a different format – for example changed from a telephone call to a video call – please contact us.

In your appointment, your genetic counsellor will ask you detailed questions about your personal and family’s medical history. This is to help us understand how the condition affects your family.

If possible, please bring the following information to your appointment:

• The names and ages of your family members with the condition.
• Their relationship to you (including on which side of the family).
• The ages they were diagnosed.
• The hospital(s) where they had treatment.

You might also find it helpful to write down any questions you have for your genetic counsellor and bring these with you to your appointment.

Alongside your personal and family’s medical history, we may discuss:

• Information about the condition.
• How the condition is inherited.
• The chance that you may have inherited the condition.
• The chance that you may pass the condition on to your (future) children.
• Management and surveillance available to you if you have inherited the condition.
• Family planning options available to you.
• Recommendations for other family members.
• Support around the emotional impact of a genetic diagnosis. We are not therapeutic counsellors but can signpost to other sources of support where necessary.

We can’t usually answer questions regarding specific medications or treatment for the condition in this appointment. These are usually best answered by the clinical team who is treating you or your relative. We may be able to signpost you to the best team to answer your questions.

This varies person to person – sometimes genetic testing may not be appropriate. Your genetic counsellor will discuss this with you.

We may request follow-up investigations as part of your care. Your genetic counsellor and clinical team will assess if this will be helpful to you.

If you find out that you or your partner is pregnant before your appointment, please contact us as soon as possible. This may affect the timing and priority of your appointment, and any genetic testing that is available.

We will discuss your options in the context of the pregnancy in more detail during your appointment. We may advise that your partner is also present for the appointment.

If you have any questions, please feel free to contact us.

Telephone: 020 7762 6077

Email: gos-tr.clinicalgenetics@nhs.net

To amend or cancel your appointment, please call: 020 7829 8880

• GOSH Clinical Genetics department
• Genetic Alliance UK is an alliance of over 220 charities and support groups working together to improve the lives of people in the UK with genetic, rare and undiagnosed conditions.
• Unique is a charity helping people to understand rare chromosome and gene disorders.