Sonic Genetics eNewsletter | Issue 7 | February 2022

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Welcome to the Sonic Genetics eNewsletter

Welcome to the Sonic Genetics eNewsletter

Issue 7 | February 2022


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 disordersUpdated: Hereditary breast & ovarian cancer testing - MBS update

A proportion of individuals with a diagnosis or family history of breast or ovarian cancer has a hereditary predisposition to develop these cancers due to variants in any one of several genes.

Testing of the genes responsible for hereditary breast or ovarian cancer (HBOC) is rebated by Medicare. These rebates improve access to genetic testing and it is important to understand the criteria in order to best support your patients.

For more information, click here


New: ThyroSeq – Thyroid molecular testing

The ThyroSeq® test utilises cutting-edge science to offer the most personalised management for patients with thyroid nodules and cancer. In one test, ThyroSeq® Classifier:

  • Confidently rules out cancer and prevents unneeded surgeries in 61-67% of patients with indeterminate cytology nodules
  • Accurately detects all types of thyroid cancer (papillary, follicular, Hürthle cell, medullary) and non-thyroidal lesions (parathyroid, metastases to the thyroid)
  • Assesses risk of cancer recurrence
  • Identifies therapeutic targets for advanced cancer
  • Guides personalised patient management

For more information, click here

Reproductive healthUpdated: Expanded reproductive carrier screening

Reproductive carrier screening involves genetic testing of a couple to determine whether they are at relatively high risk of having a child with a serious recessive disorder. Screening tests may be limited to a few selected disorders, for example, cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome (FXS). Carrier screening can also be expanded to cover hundreds of different disorders.

Sonic Genetics, in partnership with Fulgent Genetics in the US, provides the Beacon expanded carrier screen for more than 400 disorders.

For more information, click here

Pharmacogenomics (PGx)Focus: DPYD genetic testing to predict 5-FU/capecitabine toxicity

The fluoropyrimidines, 5-fluorouracil (5-FU) and capecitabine, are widely used in the treatment of solid tumours, including colorectal cancer, breast cancer and cancers of the upper gastrointestinal tract. Approximately 30% of patients experience treatment-related toxicity, with the complications being fatal in up to 1% of patients. Severe systemic reactions can also occur following topical application for the treatment of skin lesions.

DPYD genetic testing allows individualised dosing of fluoropyrimidines, resulting in less toxicity without loss of effectiveness.

For more information, click here

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