Tips for speaking with families about genetic testing and results
What is your role?
Many families have questions or concerns about their child’s results following genetic testing.
As a speech pathologist working with these families on a longer-term basis, families may raise these questions or concerns with you.
Whilst this can be a tricky conversation to navigate, it is also important to keep in mind that your role is not to provide in-depth information about a genetic condition or testing outcome – but to support families and identify other avenues where they can seek help.
What might families want to know from you following genetic test results?
Families may be interested in how a genetic testing result might affect their child’s speech therapy and ongoing care
Does a genetic explanation for speech disorder affect your speech therapy approach?
No, a genetic explanation often does not impact the speech therapy approach you might suggest for a child. Any therapy or treatment should still be provided based on the symptoms/speech and language presentation of your client. With more research, the impact of a genetic explanation on speech therapy (e.g. frequency, type) may become clearer.
Are there specific medications or gene therapies available?
No, not at the moment. Into the future, specific treatments targeting gene pathways, such as medication or drugs, may become available. Yet, this sort of targeted therapy is thought to be many decades away at this time
Does a genetic explanation affect access to funding for speech therapy?
On a case-by-case basis, a genetic explanation may be able to support ongoing access to funding via the NDIS. A family’s genetics service or paediatrician may be able to provide a letter of support including details of a child’s genetic diagnosis to submit as part of an NDIS application or re-application
How might families feel following genetic testing results?
Oftentimes, families feel mixed emotions after receiving the results of their child’s genetic testing. It is also normal for these feelings to change over time, as they adjust to this information.
If a genetic cause for their child’s speech and/or language disorder is identified, families may feel:
If a genetic cause for their child’s speech and/or language disorder is not identified, families may feel:
Tips for navigating conversations about genetic testing results
Acknowledge and normalise families’ feelings, even if mixed, following genetic testing results.
You might like to use phrases like “I can understand how…” or “It’s valid to feel…”.
It’s okay not to know all the answers! Sometimes, families will have specific questions about a genetic result or condition – in this scenario, you could re-direct families back to their paediatrician, genetic counsellor, geneticist, or GP.
Sometimes, families will have concerns or worries about a genetic result – you might also like to guide families back to their genetic counsellor or genetics service if they need more support.
Additional resources
Genetic condition-specific information
Sometimes, you may see a child or family who already has a genetic condition or genetic diagnosis, or has already undergone genetic testing.
Here are some resources that are specific to particular genetic conditions or genetic testing results, and may provide you with more information about what to expect when seeing families:
Chromosome and gene disorder guides
A range of booklets about the clinical presentation associated with several genetic conditions, organised by the name of the condition or the associated gene. Often, these booklets will include a section on speech, language, and feeding. There are also a number of practical guides for families.
Childhood apraxia of speech-related genes
Web resource outlining several genes associated with motor speech disorder, including associated health and developmental concerns, speech features, and possible considerations for speech therapy.
Genetic conditions which include speech and language disorder presentations
Web resource outlining several genetic conditions which also have implications for an individual’s speech and language. Information includes associated health and developmental concerns, speech and language features, and possible considerations for speech therapy.
What about when a genetic cause is not identified?
Web resource outlining why a genetic cause for a condition may not be identified through genetic testing, and what might happen next.
General information
Rare Disease 101 Australia
Free e-learning module about rare disease and how to support individuals and families, aimed at Australian healthcare professionals.
Syndromes Without A Name (SWAN) Australia podcast
Podcast for SPA members discussing lived experience of parenting a child with a rare genetic condition, and the work of SWAN Australia.
NOTE: Please search “genetic” on this link, to be taken to S4E40 of the Speak Up Podcast.
Parental experiences of genetic testing in childhood apraxia of speech
Research summary outlining a study which explored how parents perceive and feel about genetic testing for their children with motor speech disorder.
Tips for speaking with children about a genetic condition
Web resource which provides some tips to parents who wish to discuss a genetic condition with their children.