Sonic Genetics eNewsletter | Issue 3 | December 2020

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Welcome to the Sonic Genetics eNewsletter

Welcome to the Sonic Genetics eNewsletter

Issue 3 | December 2020


 2020 has certainly been a year to remember – or to forget. I am sure that you have heard more than you want to hear about C****-**, and so I won’t be mentioning it in this brief update!
Thank you for reading this Sonic Genetics Newsletter during 2020. Do your best to keep safe and sane over the festive season, and we wish you all the best for 2021.

Professor Graeme Suthers


Director of Genetics, Sonic Pathology Australia


Reproductive healthMoving away from brand name: Non-invasive prenatal testing (NIPT)

Sonic Genetics established in-house NIPT using the Harmony® test in 2015. Since then, we have grown to become a major provider of NIPT for GP and specialist requestors nationwide. NIPT methods have also evolved, with improving evidence for accuracy and consistency across different methods of NIPT. For example, most NIPT methods now ensure that there is sufficient fetal DNA in the maternal blood sample to provide a reliable result. As a result, we are moving away from an emphasis on brand-focussed NIPT and will diversify the NIPT methods we use. This will reduce the risk of relying on just one method or laboratory location for this important, time critical test. This diversification also means that we can provide a mix of options and benefits that come with different methods. Our long-established shipping and logistics chain can get a sample promptly to whichever lab and method will provide the options that a doctor requests in the shortest possible time. In effect, NIPT will become no different to other routine pathology for which our laboratories use a variety of methods of equivalent accuracy to ensure the efficiency and reliability of our service. Of course, any test we provide is accredited and meets the appropriate standard for this critical investigation.

In the next few months, you will see us move to use de-branded request forms, reports and literature. We will provide “Sonic NIPT” rather than a particular brand. The options available to you will not change, and the layout of the de-branded forms and reports will be essentially the same as before. The process of requesting, payment, sample collection, reporting and post-test genetic counselling will be the same.

The benefit of this change for requesters and patients is that we will be able to reduce the turnaround time by shortening the travel time for some samples and by optimising batching of samples. The other benefits of Sonic Genetics' testing - a commitment to quality, access to genetic pathologists, free genetic counselling for women with "high probability" results - remain unchanged.

Your local Sonic pathology practice will provide you with more details as they become relevant for your area. In the meantime, please use the de-branded request form which is available to download from our website. You can also use the request form found in your PMS (Genie, Best Practice or Medical Director). Instructions for this are also available from the same link above.

For more information, click here

Reproductive health

Improving access: Reproductive carrier screening

The introduction of efficient genetic test methods has allowed laboratories to offer carrier screening for recessive disorders at dramatically reduced prices. For example, we offer women a reproductive carrier screen for cystic fibrosis, spinal muscular atrophy, and fragile X syndrome for only $385; and free male partner testing if she is shown to be a carrier of cystic fibrosis or spinal muscular atrophy. Details are available here. We also offer free genetic counselling for those couples shown to be at high reproductive risk of having a child with one of these conditions. This is an important strategy because, for a mother under the age of 30 years, the risk of having a child with one of these conditions is higher than the risk of having a child with trisomy of chromosome 21, 18 or 13.

However, the cost of reproductive carrier screening represents a barrier to wider access to this important reproductive test. In a study published earlier this year, we and our non-Sonic colleagues showed that reproductive carrier screening was largely restricted to women in the top socio-demographic deciles in Australia (Robson et al, Aust N Z J Obstet Gynaecol. 2020 Aug 4. doi: 10.1111/ajo.13206). In brief, access is a major social issue. 

For this reason, we were delighted to read that the Department of Health has recommended to the Federal Minister that there be a Medicare rebate for reproductive carrier screening for cystic fibrosis, spinal muscular atrophy and fragile X syndrome (see here for details). This is merely a recommendation, not a commitment that funding will be provided. Nonetheless, we are hopeful that this will become a reality in 2021, thereby removing the price barrier and facilitating equitable access to this important test.

For more information, click here

Pharmacogenomics (PGx)FOCUS: Pharmacogenomics in pain management

The management of acute and chronic pain is challenging. It involves many dimensions of care, and there is no single “magic bullet” that will solve this problem for every patient or doctor. That said, there are tools to help you manage certain aspects of a patient’s care plan. If you are considering the use of common opioids (codeine, tramadol, dihydrocodeine, or oxycodone) or anti-depressants as part of a patient’s pain management, pharmacogenomic testing can help you choose the best drug and dose for your patient. The genes, CYP2D6 and CYP2C19, are heavily involved in the metabolism of these drugs. Approximately 50% of Australian patients have variants in these genes which could prompt a review of prescribing choices. Intervention trials have now demonstrated that pharmacogenomic-informed prescribing yields better outcomes for patients when compared with “treatment as usual”. For further details, click here

Please note that the result of a pharmacogenomic test does not direct what should be prescribed. Each patient is an individual with different clinical, psychological, genetic and social characteristics. The result of the Sonic PGx panel test can inform, but not dictate, your prescribing choices.

For more information, click here

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