How can I help families access genetic testing?
Starting the conversation with families
You could help families to think about genetic testing by starting a conversation with them. It can feel tricky to start a conversation about genetic testing with families – and that’s okay! Your role will be to get families thinking about next steps, rather than an in-depth discussion on the ins and outs of genetic testing.
How about some of these conversation starters…
I’ve completed a speech assessment with [child], and we’ve discussed [their] diagnosis of [CAS/dysarthria]. I also noticed that [child] has [clue 1, 2, 3, and/or 4 on (checklist)] – sometimes these can be clues to an underlying genetic explanation for a child’s [CAS/dysarthria]. Research is showing that there is a genetic explanation for up to 30% of children with CAS.
Has [child]’s paediatrician ever spoken with you about genetic testing? Some families find that genetic testing can be a helpful way to understand more about their child, or understand why their child has CAS. [Child]’s paediatrician would be a good person to ask more about genetic testing, but here is what we know about genetic testing in CAS
If families have more questions about genetic testing, that is okay! You might like to direct them to some of the additional links in our Think Genetic! resource, or encourage them to speak with their paediatrician, GP, or a local genetics service.
Appointments with genetics services
If families are interested in discussing genetic testing further, they may wish to speak with a genetics service for more information. Having an appointment with a genetics service does not mean a family has to proceed with genetic testing – it is an opportunity to learn more about genetic testing options, ask any questions they may have, and make an informed decision about testing. Some more information about genetics appointments can be found here.
Genetics services (both public and private) accept referrals from medical professionals. If a family is interested, you may like to encourage them to obtain a referral to a genetics service from their treating paediatrician, specialist, or GP.
Understanding what testing is available
There are several different types of genetic testing available. Please see the table below for a summary of the most common types of genetic testing available in current clinical practice. If you would like to see how these different types of genetic testing may fit into the patient journey for someone undergoing genetic testing, please see here.
Types of genetic testing
Type of genetic test
Chromosomal microarray
Whole exome/genome sequencing
What does it do?
First line screening test
Second line testing (more in-depth)
What does it look at?
Extra or missing pieces of genetic information also called copy number variants (e.g. 16p11.2 deletion, 22q11.2 deletion, XYY syndrome)
Testing several genes at once to identify changes at the DNA code-level also called single nucleotide variants (e.g. FOXP2, SETBP1, BRPF1)
How can families access it?
Via GP or paediatrician
Via clinical genetics service (or paediatrician in certain circumstances)
Is it Medicare funded?
Medicare funded (no out-of-pocket cost)
Not covered by Medicare (for isolated CAS)
How many children have a genetic explanation?
Approximately 1/10 children with CAS
Approximately 1/4 children with CAS
Chromosomal Microarray
Extra or missing pieces of genetic information also called copy number variants (e.g. 16p11.2 deletion, 22q11.2 deletion, XYY syndrome)
Whole Exome/Genome Sequencing
Testing several genes at once to identify changes at the DNA code-level also called single nucleotide variants (e.g. FOXP2, SETBP1, BRPF1)
Genetic testing process
First line testing: Chromosomal microarray
Discuss with the family, then arrange testing through the appropriate medical professional.
Genetic explanation identified
(1 in 10 children with CAS)
No further genetic testing warranted
Genetic explanation not identified
May consider further genetic testing
Second line testing: Whole exome/genome sequencing
A genetics service can discuss whether this may be appropriate after first-line testing.
Genetic explanation identified
(1 in 4 children with CAS)
No further genetic testing warranted
Genetic testing not identified
Additional testing may be available in the future
Additional resources
Clinical genetics services listed by state
List of clinical genetics services available in Australasia, with contact details noted.
What is genetic counselling?
Web resource aimed at families which outlines what genetic counselling is, and how it can be accessed.
What to expect in a genetics appointment?
Booklet aimed at families which describes what to expect during a genetics appointment, including what may happen before, during, and after the appointment, and possible helpful questions to ask their genetics team.
Easy read booklets about genetics and genetics appointments
A range of easy-read booklets which explain genetics, genetic healthcare, and genetics appointments.
Chromosomal microarray testing information for families
Web resource explaining what chromosomal microarray is, and possible results. Chromosomal microarray is often the first-line genetic test used for children with developmental concerns.
Chromosomal microarray testing information for healthcare professionals
Web resource aimed at healthcare professionals explaining what chromosomal microarray is, and possible results. Chromosomal microarray is often the first-line genetic test used for children with developmental concerns.
Whole exome sequencing under Medicare
Web resource to help guide clinicians requesting whole exome sequencing for children with neurodevelopmental concerns who may meet eligibility for Medicare-funded testing. Whole exome sequencing is a second-line genetic test that can be considered for children with developmental concerns, however funding criteria are strict.