Paediatricians can now order funded genomic testing for eligible children.
Studies have shown genomic testing can provide families seeking answers for childhood syndromes with a faster diagnosis and precise care. However, there are many factors for families to consider when it comes to genomic testing.
Two experienced patient advocates, Heather Renton and Hollie Feller, shared their insights and experiences about the process of undergoing genomic testing for their children. They addressed some of the common questions families may have and information they may like to know.
Heather and Hollie sit on the Melbourne Genomics Paediatric Statewide Project steering committee.
- Why is it important to have an accurate diagnosis?
- How is genomic testing used for childhood syndromes?
- How can parents prepare for their paediatric consultation about genomic testing?
- What is informed consent?
- How do I access genomic testing for my child?
- What are the possible results from a genomic test?
- What happens after I have been advised of my child’s genomic test result?
- How much does genomic testing cost?
- Can genomic testing affect health or life insurance?
- How do you know if genetic testing is right for you?
- Where can I go for more information?
Both of you are parents of children who were undiagnosed for a long time. Why is having an accurate diagnosis for your child’s condition important?
Heather: There are a number of reasons I consider it important to have an accurate and timely diagnosis for a child.
- For information which builds knowledge and empowerment which leads to informed decision making
- For improved health care and management of your child’s condition
- To understand the impact the syndrome may have on your child
- To connect with other families who have children with the same condition for information and knowledge sharing, and peer support
- To know if the condition is regressive and how it may progress over time
- Family planning and for other medical implications it may have for other family members
- For the opportunity to contribute to research
These are some of the possible outcomes of having a genomic test.
I often equate not having a diagnosis as living in “limbo land”: a land full of isolation, high anxiety, frustration and stress. Not having a diagnosis comes with a range of emotions and feelings that may have a negative and positive impact on many aspects of your family's life.
Having a child with an undiagnosed or rare genetic condition can make it harder to obtain timely support (medical, allied health, mental health, and government supports for your child and your family.
Heather: When we finally got an accurate diagnosis for our daughter, it was like a weight had been lifted off our shoulders.
Hollie: It is clear now as my child grows up that he has benefited hugely from an early and accurate genetic diagnosis. Clear understanding of required medical and educational interventions have changed his trajectory and provided the right therapies, treatment pathways and psychological or social supports and an ability to plan for the future.
What is genomic testing? How is it used for childhood syndromes?
Heather: There are different types of genomic tests. Microarray tests look to see if there is an extra piece of chromosome or a deleted piece of genetic code that may explain a child’s health condition. It does not look at every gene to identify genetic changes in individual genes. A microarray test is often one of the first genetic tests offered to families.
Exome tests (or exome sequencing) look at the exons, the protein coding regions that make up genes. This is where many of the gene changes are likely to occur for genetic conditions because they have a direct impact on proteins. When we look at the ‘exome’ it means the set of protein coding genes for that person. The patient’s sequenced DNA is compared to a reference genome to identify the gene changes. Medical scientists and geneticists work together to identify which gene change(s) might best explain the patient’s condition. This is the type of genetic test a paediatrician is likely to order.
Genome tests (or genomic sequencing) are similar to an exome tests, except it captures a patient’s entire DNA sequence, including all the non-protein coding regions. Not all of the sequence may be looked at; only the regions known to cause a specific condition.
For more information:
- Watch this animated video explaining genomic testing
- Head to Raising Children to find out more about genetic testing.
- Gene Equal has Easy Read health booklets co-designed by and for people with learning differences.
- This step-by-step genomic testing explainer breaks down the entire process from start to finish.
What advice would you give parents preparing themselves for a paediatric consultation about genomic testing?
Heather: It may be helpful for you to prepare a list of your concerns and questions that you want to discuss with your paediatrician. Sometimes, paediatricians may give you a list of things to consider before the appointment. Otherwise, you can take this list of questions to ask your child’s paediatrician if you are considering genomic testing. Some people find it helpful to have this written down on their phone or take a printed copy with them.
It can be helpful to have a written summary of your child’s medical history that you can give to different healthcare professionals. Keeping good records can also make the process easier.
Consider bringing a support person to an appointment – a family member or friend – who can help you before, during and after. Genetic appointments can be overwhelming for both parents and children.
Hollie: For families with English as an additional language, you can ask for a medical interpreter to help you understand the information. Contact your doctor’s clinic in advance to ensure one can be present at your appointment.
Some people may have a lot of questions at the time of the diagnosis and others may have questions once they have had time to absorb the information presented to them. People may also choose not to do genetic testing at all. All are valid, and people learn in different ways.
Hollie: If you feel like something isn’t right, its important to trust your gut and ask your child’s doctor.
Heather: After all, parents are their child’s lived experience experts. They know their child better than anyone.
Syndromes Without A Name (SWAN) has an advocacy toolkit to help parents speak up in healthcare settings.
What is informed consent and why is it important for genomic testing?
Informed consent is when a healthcare provider, usually a doctor or genetic counsellor, will ask for your explicit permission to do genomic testing after explaining what the test is, its benefits and its risks. To make an informed choice, you need to know and understand all of the considerations of a genomic test. It is your choice to proceed with genomic testing or not.
Hollie: It’s really important to understand what you are consenting to. This includes things like where your genomic data is going and how it will be stored. Ask your doctor or pathologist about it so you can make an informed decision.
Heather: Before consenting to the genomic test, you may want to consider who will have access to your child’s DNA or lab and genetic reports. It is important to take your time to ensure you read and fully understand the consent form prior to signing it. It is your right to ask questions if you do not understand. Remember, all your questions are valid and you need to understand all elements of the consent process.
Remember, genomic testing can be done as a singleton test or as a trio test. In a singleton test, only the child’s DNA is sequenced and analysed. In a trio test, the child and their biological parents' DNA is analysed together. To proceed with a trio test, both biological parents will need to consent to their DNA samples being taken.
Understanding the limitations of the tests is equally important. You’ll need to weigh up all the benefits, risks, and considerations. Read more about how do I know if genetic testing is right for me? below.
How do I access genomic testing for my child?
Heather: Families can access genomic testing through their paediatricians, paediatric specialists or through a genetics service. This diagram by SWAN explains the possible pathways to diagnosis.
Maternal child health nurses or your general practitioner may be one of the first health professionals to identify your child is missing their milestones or have other health concerns. Your GP can refer your child to a paediatrician; however there may be lengthy waiting times to access a paediatrician or genetics clinic. Your GP may be able to suggest the best pathway to take to get a genomics test for your child.
Researchers at the Murdoch Children’s Research Institute are working to better understand families experiences and their needs when accessing genomic testing via their paediatrician. You can read more about how parents voices are changing healthcare in a Source Kids Article on The Difference Genomics Makes by PhD student Erin Crellin.
What are the possible results of a genomic test?
The results of genomic tests can be challenging to understand. There are four likely scenarios:
- A genetic change was found that explains your child’s condition
- No significant genetic changes were found
- An incidental finding is found, meaning a genetic change that doesn’t explain your child’s condition but relates to other possible health conditions is found instead
- A genetic variant of unknown significance was found
Heather: Variants of unknown significance (VUS) occur when the impact of a change in a person's genetic code is unknown. This means the genetic variant found is inconclusive, and it may or may not be the cause of your child’s condition. Remember, genomics continues to evolve, and doctors are still learning about the functions of our genes. More information about variants of uncertain significance may be available in the future. It’s important to never give up hope.
Heather: If your child’s genetic condition is not identified at the time of genomic testing, it is possible your doctor may suggest re-analysis at a future date. One round of re-analysis is available to you if your child qualifies for a Medicare funded test. Your doctor will let you know if this is applicable to you.
What’s the difference between results and outcomes? A genomic test is often described as a question – is there a genetic cause for my child’s condition? A result is the answer to that question and could be any of the four scenarios above or could be inconclusive. An outcome is what happens after you receive the test result, this can be changes to healthcare, and next steps.
What happens after I have been advised of my child’s genomic test result?
Heather: You doctor should explain what the result of your child’s genetic test was and refer you to a healthcare team who can best care for your child. They may recommend a particular type of treatment for your child or a change to your child’s health management plan. If you doctor suspects there are implications for other family members, they may suggest genomic testing to screen or diagnose other family members. This is known as cascade testing. You may be referred to a genetic counsellor to discuss how this diagnosis might affect future family planning.
Hollie: The Genetic Support Network Victoria have a directory of genetic and rare disease support groups. Type the name of the condition in the search bar to find the contact details of available groups.
Connecting with genetic family support groups which provide information, support, connection and advocacy to families caring for a child with an unknown or rare genetic condition can be incredibly helpful. Don’t be afraid of seeking support when you need it and looking after your own mental health. It can be a very isolating and overwhelming time for families and connecting with others in a similar situation can be helpful.
Heather: It may be helpful to ask your clinician if there are any research projects your child can be a part of. These may be helpful in finding a diagnosis for your child if one cannot be found, as different testing technologies may be used. If you do have a diagnosis for your child, you may want to consider being a participant of a research project so scientists, doctors and people affected by the condition can learn more about the syndrome and how the genetic condition progresses.
If you receive a diagnosis, you can use this Genetic Alliance checklist of questions to ask when you get diagnosed. If no diagnosis is found, you doctor might discuss further testing or alternative options.
How much does genomic testing cost?
Hollie: Funded exome sequencing is available through Medicare for eligible children under 11 years of age. Without funding, as of April 2024, exome sequencing for childhood syndromes can range from $1800 to $4100. Ask your doctor if you are eligible for Medicare funding and how much it will cost for you.
The financial implications don’t always stop at testing for a diagnosis. Factor in the ongoing costs of management and treatment for genetic conditions, as well as supports for yourself and family members.
Can genomic testing affect insurance?
Genetic and genomic test results are not used to determine health insurance cover. There is an ongoing campaign to ban their use in determining life insurance cover. You can find more information about this on the Centre for Genetic Education page on life insurance products and genetic testing in Australia. The Financial Services Council also has a helpful factsheet with frequently asked questions about the moratorium.
How do you know if genomic testing is right for you?
Heather: You need to think about the advantages and disadvantages of knowing or and not knowing your child’s diagnosis. There is no right or wrong answer, you will need to do what is best for your family at your given point in time.
Benefits
- Possibility of a diagnosis
- Provides relief from the uncertainty
- Could result in a change in health management
- Possible pathways to therapies
- Access to more information about your child’s condition
- Inform other family members of possible genetic conditions
- Future family planning
- Diagnosis creates access to funding, resources and support
- Contribute to research
- Support others on their journey
Considerations
- Possibility of not finding any answers
- Possibility of finding gene changes with uncertain outcomes
- You can never unlearn a diagnosis
- Financial implications
- Future family planning
- Health implications for other family members
- Insurance implications
- Genomic data sharing
- If the time is right for your child
- Your child may have a life limiting progressive condition you were unprepared for
Where can I go to find more information?
Genomics education
- Wondering what that word means? Melbourne Genomics has a Glossary of Genomics words
- Want to learn more about genomics? The Centre for Genomics Education, Australian Genomics and Melbourne Genomics are great places to explore.
- To understand more about childhood milestones. Raising Children Network is designed for parents.
- Need more information about exome tests? Victorian Clinical Genetic Services have an overview.
- How can I explain genetics to my child? Mensa Kids has a genetic learning resource aimed at 10-18 year olds.
- Prefer easy read options? Gene Equal have a series of booklets for people with learning differences
Support
- Find support in the community of undiagnosed and rare genetic conditions. You might find it helpful to speak to a telehealth nurse. SWAN also have great video resources as well as Plain English and Easy English explainers.
- Learn more about where to find information on your health condition. Explore the GSNV directories for families.
- Want to keep up to date via blogs? Follow along on Disability and Me blog.