Here is a short guide with resources to support paediatricians through the testing process from start to finish. Bookmark this page to keep it handy.
The process of arranging genomic testing can seem complex and time consuming . This webpage is here to help! Use this guide for support and feel free to contact a genetic expert at any point in the process.
Does my patient fit the eligibility criteria?
Medicare funds whole exome sequencing and whole genome sequencing for children prior to their 11th birthday, where a monogenic condition is suspected. Two MBS items apply: 73358 and 73359. This testing can include the child alone (singleton) or the child and their biological parents (trio).
- Read about the MBS item 73358 and 73359 criteria
- Use the checklist to help determine if your patient is eligible
|You are a paediatrician|
|You have consulted with a Clinical Geneticist|
|About my patient|
|* 10yrs and 364 days or younger|
|Dysmorphic facial features AND 1 or more major structural congenital anomalies|
|ID or GDD, at least moderate severity,|
determined by a specialist Paediatrician
|Other required test - CMA||RESULT NEGATIVE / UNINFORMATIVE||RESULT POSITIVE|
|Chromosome microarray [item 73292]|
- Uninformative result required
|For singleton test - no plan to do trio WES/WGS|
|Obtain informed consent for testing|
|Take a family history|
|Identify key phenotypic terms for ordering|
|Choose gene lists - PanelApp or with Geneticist|
The following articles with pictures that can help you describe facial dysmorphology covering features on the head and face, mouth and ear, nose and periorbital region.
Is genomic testing right for this family at this time?
- Watch this short video clip
How do I choose the appropriate funded genomic test?
- Read this short webpage on choosing the right test
- Refer to this easy-to-read table explaining the differences between the tests
Currently there are no out of pocket costs to patients for Medicare funded exome testing. Exome sequencing will be the appropriate choice for most patients.
Medicare funded genome sequencing is not currently available as a bulk-billed test and there would be significant out of pocket additional costs (to be paid by either the patient or hospital service).
Do I choose a singleton or trio genomic test?
- A trio test includes testing of a child and both of their biological parents. It is more likely to yield informative results
- A singleton test sequences the child only
If you need help deciding which test to order, a genetic expert is available to help.
*A duo test includes a child and one biological parent. Please note duo testing is not funded by Medicare therefore, in this case a singleton is the appropriate test for Medicare funding.
If your patient does not meet Medicare criteria, testing may still be appropriate. Please contact your local genetics service to discuss.
Finding a laboratory and genetics service
You can choose which laboratory to use for your patient’s genomic test. When choosing one, you may want to consider turn-around time, sample type and method of collection.
Finding a NATA accredited laboratory
A pathology laboratory must be accredited by the National Association of Testing Authorities (NATA) to offer Medicare funded exome or genome sequencing. Each laboratory has different ordering processes, so it’s important to find the one that best suits you and your patients.
To process a genomic test laboratories require:
- A request form detailing clinical information
- Signed consent forms from patients and/or families or carers
- Suitable sample
Find NATA accredited laboratories in your area. Search by test type and location.
For Paediatricians in Victoria
The Victorian Clinical Genetics Services (VCGS) is currently the only NATA accredited laboratory in Victoria offering Medicare funded genomic testing. Go to the VCGS online ordering system. Clinical geneticist approval is included in the online order process.
South Eastern Area Laboratory Services (SEALS) is a New South Wales based laboratory that offers NATA accredited Medicare funded genomic testing for patients in Victoria. Go to the SEALS order guide for paediatricians. You will need to contact your local genetics service for clinical geneticist approval prior to ordering the test.
Finding a clinical genetics service
If you think your patient has a genetic condition but they do not meet the criteria for Medicare funded genomic testing, you may want further advice. Your local genetics service can guide you further. Find Genetic Services in your area.
Consenting patients, families and carers
Consent for genomic testing is a more involved process than for other kinds of investigations. Genetic tests have implications not only for the person being tested, but can impact their family members too. Consider scheduling a short appointment with your patient and their parents/carers specifically to discuss consent for genomic testing.
Here are some resources to support you through the process.
- View an example consent form you can use for genomic testing at any laboratory in Australia
- Read a short guide on obtaining informed consent for genomic testing
- Use this checklist to help you ensure you’ve covered all the important information during your consent discussion
For more comprehensive information, refer to the Counselling and Consent for Genomic Testing module on learn-genomics.org.au (estimated time for completion 20 minutes).
Resources to use during a consent discussion
You may consider working through some of the following resources together with a family during your consent appointment. Alternatively, if your patient, their family member or carer would like to find out more about genomic testing, you can refer them to:
- A simple fact sheet and video for families
- Alternatively, you may find this video on genomic testing useful
- Factsheet for patients receiving consenting for genomic sequencing for genetic conditions including Plain English and Easy English explainers for genomic testing
Completing the test request form
The specifics of the test request process will differ between laboratories. Below are links to the ordering processes for two NATA accredited laboratories which provide Medicare exome testing for childhood syndromes.
Understand the order process
The Victorian Clinical Genetics Services (VCGS) has a VCGS online ordering system. You may use VCGS consent forms attached in the ordering system or national consent forms, and email to the service.
South Eastern Area Laboratory Services (SEALS) requires you follow the SEALS Order Guide.
Prepare what you need
More detail is required to complete genomic testing request forms than for other kinds of tests. Some of the order processes cannot be saved if incomplete, so it is best to have everything you need ready before you start to fill in the request form.
Before you start ordering a Medicare funded genomic test, have the following ready:
- Practitioner and clinic details, including email for reports
- Patient details including date of birth and Medicare number and contact details
- Parent details where relevant (including date of birth, Medicare number, clinical information)
- Clinical details including dysmorphic features, congenital abnormalities, measurements such as head circumference, height and weight, confirmed severity of global developmental delay or intellectual disability.
- The following articles with pictures that can help you describe facial dysmorphology covering features on the head and face, mouth and ear, nose and periorbital region.
- Details of previous testing such as microarray results (microarray is required prior to Medicare funded genomic testing for childhood syndromes.)
- Family history including ethnicity, consanguinity.
- You may find these instructions helpful for recording a genetics focused family history and drawing a pedigree. This article can help you write an inclusive and affirming pedigree.
Collecting the sample
Genomic testing can be performed on DNA extracted from various types of samples, such as blood, saliva or tissue. Blood and saliva are the most common types of samples used.
On the pathology request form you complete, please specify the type of sample:
- EDTA blood sample (5mL per adult or 1-3mL per child) OR saliva sample
Some factors to consider when choosing which sample type to request include:
- Patient comfort
- Location of collection (at home or a pathology collection centre)
- Reliability of sample
- Saliva samples: When collected according to instructions, this sample type is very reliable, can be sent by mail and is stable at room temperature for long periods of time. Occasionally saliva samples may require re-collection, as there can be insufficient genetic material or contamination with food
- Ease of sample transport (saliva collection kits can be sent by post)
Resources for patients
This video demonstrates how to perform saliva collection.
Interpreting test results
This journal article and video (13 minutes) can help you interpret your patients’ genomic testing reports. These resources also contain information on when to seek consultation with clinical genetics services for additional support.
Alternatively, reach out to our genetic expert to discuss what this result means for your patient and their family and for support to disclose this information to them.
Families often want some written information to take away from a disclosure consultation to help them remember the details of their genomic test result.
View an example case study (Scenario 2) on how to have accessible, inclusive and respectful meetings with patients, families and carers where results of genomic testing are disclosed.
During a disclosure consultation families will often ask about how the results of their genomic test will impact them in the future. The following resources may help you answer this question:
- GeneReviews offer clinically relevant and medically actionable information for inherited conditions in a standardised journal-style format. Search by the relevant condition to learn more.
- Rarechromo offers free 2-page disorder guides ideal for printing, find the one suitable for your patient
Customise this plain language genomic test report for your patient; a genetics expert can help you transcribe clinical report contents to a template such as this.
An important part of supporting families in receiving a genetic diagnosis is providing avenues for them to find support and link with others who have relatable lived experience.
- Syndromes Without a Name (SWAN) has a range of practical resources for families and offer a Patient Pathways Nurse on call
- Genetic Support Network Victoria (GSNV) has a collated Directory of Genetic and Rare Disease Support Groups, Directory of Community Services and a Directory of Genetic Conditions
- Certain conditions have established support groups with patient resources, family networking and research opportunities. For example: Dravet Syndrome, GRIN-related disorders and Jordan's syndrome. Support groups for new or emerging conditions may be harder to find. You may suggest to families and carers that they use Google or other channels (i.e., Facebook) to search for the relevant support groups.
Search engine to link phenotypes with gene changes and associated diseases
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Access the step-by-step guide
Providing your email address will give you immediate access to the full step-by-step guide. You can return to this guide as many times as you like by bookmarking it. Accessing it on a different device will require entering your email again.
This guide can help you with:
- Identifying eligible patients with suspected childhood syndromes
- Ordering a test in your area
- Consenting considering ethical and legal implications
- Directing your patient to collect a suitable sample for genomic testing
- Interpreting and disclosing results
- Supporting your patients and their families with resources and support groups
You will also discover professional development resources for deeper learning about using genomic medicine in your clinical practice.
Why we’re asking for your email
This webpage is being evaluated in a research project approved by the Royal Children’s Hospital, Melbourne, Human Research Ethics Committee (94607). The research aims to understand how this webpage impacts paediatrician practice of ordering genomic testing; and any feedback on the webpage. You will be sent an email inviting you to complete up to two optional, short research surveys (in a month and in 3 months) and you may be invited to take part in an interview. You can access this webpage whether or not you take part in the research activities.