Sonic Genetics eNewsletter | Issue 6 | October 2021

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Welcome to the Sonic Genetics eNewsletter

Welcome to the Sonic Genetics eNewsletter

Issue 6 | October 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 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

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, by calling 1800 010 447 or through your local Sonic pathology practice.

Professor Graeme Suthers


Director of Genetics, Sonic Pathology Australia


Familial disordersNew: Colorectal cancer germline testing with MBS rebate

A proportion of individuals with a diagnosis or family history of colorectal cancer have a familial predisposition to develop these cancers due to variants in any one of several genes. The purpose of testing these genes can be categorised as follows:

  • diagnostic testing of one or more genes in an affected person to make a genetic diagnosis of hereditary colorectal cancer
  • if a variant has already been identified in the family, confirmatory testing for that specific variant can be offered to other affected relatives, potentially confirming their diagnosis of hereditary colorectal cancer
  • if a variant has been identified in the family, cascade testing for that specific variant can be offered to unaffected at-risk relatives, thereby clarifying their risk of developing cancer.

We provide different panels of genes for testing patients with Lynch syndrome, familial adenomatous polyposis or familial non-adenomatous polyposis. We also offer confirmatory or cascade testing in families in which a mutation has been found. These tests have Medicare rebates which, subject to the requirements of a Medicare descriptor being met, may cover all or part of the cost.

For more information, click here


New: Pathology podcasts featuring genetics

The podcast series “This Pathological Life” brings to life a spectrum of general pathology topics by delving into each through the lens of historical aspects of disease, community impact of chronic illness, research and topical areas of interest.

Podcast host Steve Davis is joined by our resident Pathologist Dr Travis Brown. Steve is a seasoned radio interviewer and podcaster. Aside from running his own marketing company, he is a public speaker, stand-up comedian and journalist. Dr Brown is a General Pathologist who enjoys working in the fields of Biochemistry, Microbiology, Anatomical Pathology, and Haematology.

Topics on genetics include:

  • Episode 13: Chromosomal Abnormalities Pathology | Survivable triplicates
  • Episode 33: Genetics Pathology | Fragile X: The Fra(X)-men
  • Episode 44: Will not have been meaningless | PKU & cystic fibrosis pathology
  • Episode 45: Drugs & Genes : Pharmacogenetics and pathology

For more information, click here

Familial hypercholesterolaemiaUpdated: Familial hypercholesterolaemia

Familial hypercholesterolaemia (FH) is a common familial disorder present from birth that markedly elevates plasma low-density lipoprotein (LDL)-cholesterol concentration. If untreated, FH leads to premature atherosclerosis and coronary artery disease (CAD). Although there are 100,000 people with FH in Australia, the overwhelming majority remain undiagnosed and undertreated. FH is a leading challenge in public health genomics.

A consensus statement has been published providing Guidelines for managing FH in Australia. In this publication, recommendations are given on the detection, diagnosis, assessment and management of FH in adults and children. Recommendations are also made on genetic testing and risk notification of biological relatives who should undergo cascade testing for FH by the age of 10-12 years.

For more information, click here

Pharmacogenomics (PGx)Focus: PGx and allopurinol

Allopurinol is the most commonly used drug for the treatment of hyperuricemia and gout. However, allopurinol is also one of the most common causes of severe cutaneous adverse reactions (SCARs), including Stevens–Johnson syndrome and toxic epidermal necrolysis. A variant in the human leukocyte antigen (HLA)-B, HLA-B*58:01, is strongly associated with allopurinol-induced SCAR.

HLA testing can identify individuals at high genetic risk of developing a severe cutaneous adverse reaction to allopurinol. Screening for the HLA-B*58:01 variant is available nationally through Sonic Genetics.

For more information, click here

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