Paediatric genomic testing pathway for patients aged 10 and under

When a patient is suspected to have a genetic condition, conduct all routine assessments and investigations.

• When considering a potential genetic basis to your patient’s symptoms, use the Think Rare Family GENES red flags.
• Using shared decision making, undertake all standard assessments and investigations, e.g. Chromosome microarray, Fragile X, saliva sample and urine metabolic screen.
• Provide appropriate pre-test counselling for any genetic tests including discussion of uninformative results, variants of uncertain clinical significance and incidental findings.
• Consider providing the patient and their family with relevant fact sheets from the Centre for Genetics Education (CGE) website.
• Work through a consent form for each genetic test ordered with the patient and family, to ensure you are explaining all important aspects of the test.

Once you have confirmed the patient is eligible for Medicare rebatable genomic testing:

• Watch this video on considering genomic testing and consent.
• Consult with a clinical genetics service or the NSW Genetics of Learning Disability (GOLD) service (see the Centre for Genetics Education (CGE) ordering guide).
• Discuss genomic testing information for families including an explanation of all possible results (see Preparing for a results discussion).
• Obtain informed consent for the patient from the parent/guardian (plus biological parents if trio testing*) with a consent form.
• Provide the laboratory with the required forms including:
  • evidence of consultation with geneticist
  • consent form for child (plus both biological parents if trio testing)
  • test request form including phenotype information.

* Trio testing (child plus biological parents) is ideal in most scenarios as it helps laboratories analyse findings more accurately.

If the patient is ineligible for Medicare rebatable testing, genomic testing may still be appropriate.

• Consult with a clinical genetics service prior to making a referral.
• Locate the patient’s local genetics service using the Centre for Genetics Education (CGE) Genetic Service Finder.

Watch this video on How to explain a genomic test result and know when to contact genetic services to help explain to patients and families. Explore the Centre for Genetics Education (CGE) website for useful fact sheets and resources to assist in these discussions.

Ensure all the below possible results are discussed at the time of patient consent.

• Genetic cause identified – genetic diagnosis. Provide patients with CGE fact sheets or visit the Rare Awareness Rare Education (RARE) portal for clinician and consumer resources regarding rare diseases.
• Variant of uncertain significance – may need additional clinical correlation and counselling.
• Incidental finding – may need additional clinical correlation and counselling.
• Genetic cause not identified – does not eliminate possibility of a genetic condition, may benefit from reanalysis of genomic data after 2-3 years. After initial analysis, Medicare allows for 2 further reanalyses across the patient’s lifetime, at least 18 months apart.
• Consider alternate pathways, e.g. Undiagnosed Diseases Network of Australia (UDN-Aus).

• Watch this video on Recognising when genomic testing would be suitable for a patient
• Assess whether the patient meets the following eligibility criteria for Medicare rebatable genomic testing:
  • Any child 10 years of age or younger, with:
    • at least moderately severe global developmental delay or intellectual disability OR
    • dysmorphic facial features and one or more major structural congenital anomalies.