Genetics Service appointment information

Introduction

You have been referred to a Clinical Genetics Service at one of the hospitals in the Sydney Children’s Hospitals Network. This information sheet tells you what to expect during your appointment.

You may already know there is a genetic condition in your family and want more information, or your doctor may have referred you to us because they think someone in your family may have a genetic condition. 

At your appointment we can talk with you about genetic conditions and do our best to answer any questions you have.

Frequently asked questions

Here's a list of questions parents and carers often ask. They are designed to help you prepare for your upcoming appointment with us.

What will happen before the appointment?

One of our genetic counsellors may contact you by phone or email to gather more information. For example, they may ask about your family health history. Knowing about your family’s health history can help us understand more about your/your child’s health conditions and how we can best support you and your family. 

The appointment may be face-to-face or by confidential video link (telehealth).

Who will I see at my genetics appointment?

You may see a genetic doctor, and/or a genetic counsellor. We sometimes have medical students or doctors and genetic counsellors in training; we will ask you if it is ok for them to join the appointment.

What will happen at the genetics appointment?

Your genetics appointment will last about 1 hour. We will talk about your family history and you/your child’s health. We may examine you and/or your child. If you say it is ok, we may take photographs for the medical record.

We will talk about genes and explain how genes can be linked with health problems. We will also explain any tests we recommend, and what the results could mean. Then we will talk about next steps for you/your child or your family.

We understand that you might be worried about your health or about your child’s health. We will do our best to answer any questions you have and provide support.

How can I get ready for my appointment?

Please bring your child’s “Blue Book” (Personal Health Record book), any specialist letters or relevant health information, and Medicare card, if you have one.

Please let us know if you would like to invite a family member or friend to join.

Please let us know before the appointment if there is anything else that you need for the appointment. Feel free to bring a list of questions.

Does my child or anyone else in my family have to have genetic tests?

No. We offer tests if we think it could help with your/your child’s health care. But it is your choice. You do not have to have a genetic test if you do not think it is right for you, or your child.

How is a genetic test done?

If you think a genetic test is the right choice, then we may give you a form for a blood test. This can be collected at the hospital blood-taking service, with staff trained to take blood from children and adults.

Sometimes a saliva (spit) sample can be taken instead of blood.

What will happen after my genetics appointment?

We will write a letter to your doctor(s) after the genetics appointment. It will include a summary of your/your child’s health issues, any planned tests, the results of any tests, and any helpful resources. 

The letter may include information about any planned future visits with the genetics service. We often send you a copy of the letter too.

Contact details

Sydney Children’s Hospital, Randwick Centre for Clinical Genetics

The Children’s Hospital at Westmead, Department of Clinical Genetics

Last updated Sunday 4th February 2024