Information about an appointment with clinical genetics

People, both adults and children, are referred to Clinical Genetics for various reasons, including:

• Signs of a Genetic Disorder: Features that suggest the presence of a genetic condition.
• Family History: There is a genetic condition in the family, and they want to understand its implications for their health and the risk to other family members.
• Pregnancy Concerns: Worries about inherited conditions before or during pregnancy.
• Family History of Certain Conditions (e.g., cancer): To receive recommendations for screening and strategies to reduce risk.

If you’re unsure why you’ve been referred for a Clinical Genetics appointment, please check with the doctor who referred you (either your GP or hospital specialist) or contact us in the Department of Clinical Genetics.

Each appointment is unique, but it will likely include some of the following:

• Medical History: The doctor or genetic counsellor will ask about your (or your child’s) health history. It’s helpful to know which other doctors you are seeing and why.
• Family Health History: You’ll be asked questions about your family members and their health.
• Physical Examination: You may be examined, which could include looking at your face, hands, feet, and measuring your height, weight, and head size.
• Photographs: With your permission, photos may be taken to record clinical features.
• Genetic Testing Discussion: If genetic testing might be beneficial, we will discuss options and answer any questions you have.
• Consent: Before any testing is done, we will ask for your consent, ensuring you understand the risks, benefits, limitations, and possible outcomes.
• Blood Sample: If you agree to genetic testing, it usually involves a blood sample, taken either in the clinic or the phlebotomy department.
• Follow-Up: After your appointment, you will receive a letter summarising what was discussed.
• Training Environment: We are a training department, so medical students, doctors, or genetic counsellors in training may be present.

Here are some tips from others who have attended appointments and from our staff in Clinical Genetics:

1. Gather Family Medical History: Collect information on your family’s medical history, including names, dates of birth, conditions or health issues, and any genetic testing details (where it took place and the results).
2. Bring Activities for Children: If the appointment is for your child, consider bringing toys, a tablet with earphones, coloring materials, snacks, or have a friend or family member who can take them for a walk. The length of the appointment can be challenging for some children.
3. Write Down Questions: Prepare a list of questions or concerns you want to discuss during the appointment.
4. Plan for Parking: Allow extra time to find parking and get to the department before your appointment. It can take more than 30 minutes to find parking.