Sonic Genetics eNewsletter | Issue 5 | June 2021

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Welcome to the Sonic Genetics eNewsletter

Welcome to the Sonic Genetics eNewsletter

Issue 5 | June 2021

 

Welcome to the latest edition of the Sonic Genetics Newsletter. Sonic Genetics is the genetic testing arm of Sonic Pathology Australia, a network of eight Sonic pathology practices across Australia. All of our tests are available through your local Sonic practice and collection centres. You can find details of our tests at sonicgenetics.com.au. We have a team of genetic pathologists and senior medical scientists available to assist in test selection and interpretation. If you have any questions, please call us on 1800 010 447 or email us at info@sonicgenetics.com.au.

We provide this Newsletter to highlight new tests being offered through Sonic Genetics and to remind you of tests that may have been available for a while. We welcome requests for subjects for this Newsletter. You can contact Sonic Genetics by email to newsletter@sonicgenetics.com.au, by calling 1800 010 447 or through your local Sonic pathology practice.

Prof-Graeme-Suthers-Square
 
Professor Graeme Suthers

BSc (Med), MBBS, PhD, FRACP, FRCPA, GAICD

Director of Genetics, Sonic Pathology Australia

 


Reproductive healthUpdate: Reproductive carrier screening and MBS rebate

Reproductive carrier screening provides an opportunity to dramatically reduce the risk of serious genetic disorders in children. Autosomal recessive and X-linked disorders are individually uncommon, but together they represent a much greater risk than chromosome disorders such as the common trisomies.

Carrier screening for cystic fibrosis, spinal muscular atrophy and fragile X syndrome identifies 1 in 240 couples as being at high reproductive risk of having an affected child. An expanded carrier screen of hundreds of genes identifies 1 in 20 couples as being at high reproductive risk.

At present, reproductive carrier screening is not rebated by Medicare. The Federal Minister is considering a recommendation that the 3-gene screen be included on the MBS. As it stands, the 3-gene screen costs $385 for the woman, with free screening of her male partner if required. The expanded carrier screen for over 400 genes costs $595 per person. Sonic Genetics provides free post-test genetic counselling for couples shown to be at high reproductive risk.

For more information, click here


Pharmacogenomics (PGx)

Focus: PGx and depression

Depression is a common disorder presenting to General Practitioners, and a challenging one to manage. In a prospective observational study of depression being managed in Victorian general practice, approximately 25% of patients were taking antidepressants that were not concordant with the patient’s pharmacogenetic profile i.e. the medication would not have been recommended on the basis of the patient’s pharmacogenetic test result. In 8 of the 10 years of this longitudinal study, the frequency with which antidepressants were switched was far greater among those on discordant medications than in those taking medications which were concordant with their pharmacogenetic result. Subsequent interventional studies have documented that pharmacogenomic-informed prescribing increases the rate at which patients recover from their depression.

For more information, click here


Dr Marina BerbicNEW: Meet our pathologists

Dr Marina Berbic joined Douglass Hanly Moir (DHM) as a pathologist in January 2021, after completing a specialist training program in genetic pathology through the Royal College of Pathologists of Australasia (RCPA). She has a longstanding clinical and academic interest in reproductive medicine and is a Senior Adjunct Lecturer with the School of Women’s and Children’s Health at the University of New South Wales. Marina is passionate about reproductive genetics, specifically, reproductive carrier testing and non-invasive prenatal screening, and she understands the impact that these results have not only on the individual, but in guiding reproductive decisions for couples. Marina also has experience in the analysis and reporting of next generation sequencing data (including whole exome sequencing), and is committed to integrating these technologies into mainstream personalised medical care. Marina is part of the Sonic Genetics team and available to discuss clinical matters.

For more information, click here


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