CPMG Genetics

Clinical Genetics: Who are we?

Dr Natasha Brown, Dr Chloe Cunningham and Prof Sue White.

What can we offer?

We are specialists in the diagnosis and management of genetic conditions in children and adults. We welcome referrals from GPs and specialists for the assessment, diagnosis and/or management of possible and confirmed genetic conditions in children and adults. 

Our service includes:

- Medical assessment of children or adults with a known or a possible genetic condition.
- Request and interpretation of genetic tests (such as exome sequencing or gene panels) where applicable
- Interpretation of results for paediatrician ordered Medicare funded exome tests, including diagnostic discussion, management and surveillance advice, recurrence risk and evaluation of uncertain findings, where applicable
- Assessment of an individual's risk of inheriting a genetic condition 
- Pre-pregnancy carrier screening and assessment of risk for genetic condition in a pregnancy
- Prenatal (current pregnancy) consultations regarding risk of an inherited condition or interpretation of abnormalities identified in a pregnancy.  
- Prescription of Vosoritide for the treatment of achondroplasia

Our service does not include:

- Assessment for a possible inherited cancer predisposition syndrome. Referral to a Familial Cancer Centre is recommended unless otherwise advised after discussion with one of our Clinical Geneticists. 
- Interpretation or management of direct-to-consumer genetic test results.
-Pharmacogenomics

Referrals:

- A referral from a medical doctor (General Practitioner or specialist) is required for all appointments.
- Please include with the referral all relevant investigation results, including previous genetic test results for the patient and any relatives if appropriate, and relevant imaging reports.
- For referrals regarding chromosome microarray results, please organise and include parental microarrays, where recommended by the testing laboratory, prior to making a referral.
- For referrals relating to a current pregnancy, please mark as urgent and phone the clinic to discuss scheduling.

What to expect from a genetics appointment:

Your first appointment will typically take 60 minutes and subsequent appointments are up to 45 minutes. 
Assessment of multiple family members may be required, in which case a specialist or GP referral will be required for each of the relevant family members.  Our administration team will let you know if this is the case on review of the doctor’s referral for the patient.

Additional out-of-pocket costs may be associated with recommended genetic tests.

Useful Links with more information about genetics and genetic testing:

Consent video:
https://learn-genomics.org.au/animation-genomic-testing/

Genomic testing consent form  from the Victorian Clinical Genetics Service (VCGS):
https://www.vcgs.org.au/media/MGF_164_consent_form_genomic_testing_ef4111997e.pdf

Fact sheets and infographics from Australian Genomics Health Alliance on genomic testing, data sharing and insurance implications of genetic tests:
https://www.genomicsinfo.org.au/genomic-testing/

Information booklet from Australian Genomics Health Alliance on genome sequencing:
https://www.genomicsinfo.org.au/wp-content/uploads/2021/02/What-is-Genome-Sequencing_21Jan20211.pdf

Information from Genomics England about your genome:
https://www.genomicsengland.co.uk/genomic-medicine/understanding-genomics

Information from Victorian Clinical Genetics Service on chromosome microarray
https://www.vcgs.org.au/api/media/CTW-166-microarray-factsheet.pdf