Genomics is a complex area of health and it can be difficult to understand how genomic testing might impact you and your family. Your child’s paediatrician can provide personalised medical advice.

Medical appointments can go very quickly, so it’s important to be ready to ask all the questions you have and respond to any of the doctor’s questions about your child’s health history.

Some parents find it useful to prepare a list of questions prior to their appointment. Taking a friend or other family member to appointments for support can be helpful.

We’ve put together a list of frequently asked questions that you may choose to ask your paediatrician if you are considering genomic testing.

You may find it helpful to bookmark this page on your phone or print it out and take it to your appointment.

The genomics and childhood syndromes page can give you a general understanding of genomic testing and its common considerations.

  • What is genomic testing?
  • How is genomic testing done?
  • What is singleton vs trio genomic testing?
  • What are the possible results of genomic testing?

Things you may want to ask your child’s paediatrician when considering genomic testing:

  • Why should I consider genomic testing for my child?
  • How long will the genomic testing process take?
  • Where will my test be done?
  • Can genomic testing change what healthcare is available for my child?
  • How much will genomic testing cost? Are there any other financial costs associated?
  • What can genomic testing not tell us?
  • Will genomic testing reveal adult health conditions in my child?
  • Will genomic testing reveal health conditions that impact our family?
  • Can genomic testing help other family members?
  • What is the chance that the test will accurately diagnose my child’s condition?
  • What is the chance of the test identifying an incidental finding - a genetic condition that is unrelated to the reason my child is being tested?
  • What support will be available during and after receiving testing results?
  • Will the information from our genomic test be stored securely? Will my or my child’s genomic sequence be de-identified?
  • Will genomic testing impact our life or health insurance?
  • Can you provide me with a list of next steps?
  • Are there any other health professionals we need to consult? Are you able to refer us?
  • Why do I have to repeat my story to different healthcare professionals?
  • What if the genomic test cannot diagnose my child? What other testing is available?

Information your paediatrician may ask about when discussing genomic testing:

  • Confirmation of your child’s date of birth, Medicare number and contact details
  • Details of the patient’s biological parents, including their date of birth, Medicare number and contact details
  • Details of your child ’s birth and the pregnancy
  • Your child’s medical history, including their growth, development, learning and any health concerns
  • Details of past tests such as microarray, MRI, and any other investigations
  • Family history including details about the health, development and learning of other family members. This helps identify patterns of inheritance
  • They may take some photos of your child to put into their medical record

Your paediatrician should ask if you understand genomic testing and its considerations or if you have any other questions.

Should you decide to proceed with genomic testing for your child, your paediatrician will ask for your consent. This confirms you understand what the testing process involves and that you are making an informed decision. Consent is usually given by signing a consent form.

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Written by: Jessica InceConnect
Medically reviewed by: Dr Emma Weisz
Insights provided by: Heather Renton and Hollie Feller


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Melbourne Genomics acknowledges the Wurundjeri people of the Kulin Nation, on whose lands we work, and all First Nations peoples across Victoria. We pay respect to Elders past and present. We also acknowledge the First Nations health professionals, researchers and leaders who are shaping the future of genomic medicine.

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