Sonic Genetics eNewsletter | Issue 4 | March 2021
Welcome to the Sonic Genetics eNewsletter
Issue 4 | March 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 firstname.lastname@example.org.
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 email@example.com, by calling 1800 010 447 or through your local Sonic pathology practice.
BSc (Med), MBBS, PhD, FRACP, FRCPA, GAICD
Director of Genetics, Sonic Pathology Australia
Update: Non-invasive prenatal testing (NIPT)
Sonic Genetics implemented NIPT in our Brisbane laboratory in 2015. We chose the Harmony prenatal test because of its performance and, in particular, a quality check that ensured that there was sufficient fetal DNA in the maternal blood sample for an accurate result. With the combination of Harmony’s track record and the specialist pathologist support we provide referring doctors, we have grown to become one of Australia’s largest providers of NIPT. We have now expanded our NIPT services by launching a second NIPT assay in our Sydney laboratory. We carefully reviewed the performance of various NIPT assays, and concluded that the VeriSeq v2 assay now provides comparable performance to Harmony, as well as including a check for sufficient fetal DNA in the maternal blood sample.
Given the equivalence of performance and quality controls, we have “de-branded” our NIPT to provide a generic service rather than promote a specific brand. The options for requesting a screen for the common autosomal trisomies, fetal sex, sex chromosome aneuploidy, and 22q microdeletion are unchanged. Our request forms and reports will look the same, whether a sample is being analysed in Brisbane or Sydney. The price and offer of post-test genetic counselling have not changed.
We will continue to explore new methods and approaches to NIPT to ensure that our tests provide reliable, useful information and are backed with strong professional support.
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Update: Blood chromosome studies
Sonic Genetics provides blood chromosome studies across the Sonic pathology practices nationally. Blood chromosome studies are often used in the investigation of children with congenital malformations or developmental delay, and of couples seeking fertility assessment. Since mid-2020, we have seen a 25% increase in the demand for fertility-associated blood chromosome studies. Many other laboratories in Australia have reported a similar surge. This has presented all laboratories with a major challenge because blood chromosome studies are labour-intensive, and new scientists and technicians require training for many months. As a result, it is a relatively slow process to expand the capacity of a cytogenetics laboratory. The net effect is that many laboratories are struggling to meet the demand. The turnaround times are longer than doctors and patients expect, and longer than the laboratories would prefer. This is a national phenomenon and the Royal College of Pathologists of Australasia has cautioned specialist obstetricians of these delays.
If you are concerned about the delay in obtaining a particular result, please contact your local Sonic pathology practice
FOCUS: Allopurinol hypersensitivity
Allopurinol has a long-established role in the management of hyperuricaemia and gout. However allopurinol can also cause a hypersensitivity reaction that varies in severity from a mild rash to a severe cutaneous adverse reaction. The incidence of severe reactions is between one in 250 and one in 1000 patients commencing allopurinol. These reactions typically occur within two months of commencing treatment and the mortality rate can be as high as 25%.
The risk of severe allopurinol-induced hypersensitivity reactions is associated with a specific HLA variant, HLA-B*5801. The frequency of this variant varies in different populations, being highest in people of Chinese (Han), Korean and Thai ancestry. In these populations, the variant is found in 10-20% of patients.
In a large study in Taiwan, the introduction of screening for this HLA variant reduced the frequency of severe adverse reactions from one in 300 to zero (p-value <0.005).
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