Sonic Genetics eNewsletter | Issue 1 | June 2020

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Welcome to the Sonic Genetics eNewsletter

Welcome to the Sonic Genetics eNewsletter

Issue 1 | June 2020

 

Sonic Genetics is the genetic testing service provided through Sonic Healthcare’s pathology practices across Australia. The range of tests we provide is constantly growing, and this presents a double-edged challenge. On the one hand, we need to inform requesting doctors about the potential utility of our tests for their patients. At the same time, the pressures on doctors’ time have become acute and it is tough to get the opportunity and head-space to review new material.

The purpose of this eNewsletter is to make it easy for you to pick out information about genetic tests that is relevant for you. We will provide updates about new and revised tests, and also include links to established tests that you may like to re-visit. The information is presented as a brief informative heading with a link to more detailed information. Where possible, we will include relevant online education (a video presentation or CPD task) that is relevant to the topic. We hope that this works for you.

We are very open to requests and suggestions. 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 carrier screeningReproductive carrier screening

Screening for common chromosome disorders in pregnancy has been an integral part of reproductive care for decades. However, chromosome disorders account for only a small proportion of the serious genetic disorders in infancy. By far the most common disorders are autosomal or X-linked recessive, for example, cystic fibrosis, spinal muscular atrophy and Fragile X syndrome. Approximately 1:160 Australian couples is at high reproductive risk of having a child with one of these three conditions. Screening couples to identify carriers of these conditions is effective and readily available through Sonic Genetics.

For more information, click here

Carrier screening can be expanded to check for more than 400 different conditions. Approximately 1:20 Australian couples is at high reproductive risk of having a child with one of these conditions. Expanded reproductive screening is available through Sonic Genetics.

For more information, click here


Sonic Education

Sonic Education is a new resource of video presentations and information about upcoming workshops that may be of interest. We are including a growing number of presentations on the principles and practice of genetic testing.

For more information, click here


Lactase persistenceLactase persistence

Lactose intolerance is a common short-term problem after viral enteritis in children, and a common long-term finding in adults. Adults of West European ethnicity are exceptional in retaining intestinal lactase production; the majority of the world’s population is not lactose tolerant after childhood. These different patterns of short- versus long-term lactose intolerance can complicate the assessment of abdominal symptoms at any age.

Sonic Genetics offers a test that identifies people who have genetic variants associated with lactase persistence, that is, those with such variants are only at risk of short-term lactose intolerance. Conversely, the absence of such variants makes it likely that the person will become permanently lactose intolerant during childhood.

For more information, click here


Pharmacogenomics (PGx)Informed prescribing of antidepressants

Pharmacotherapy in the management of depression is notoriously challenging. The response to pharmacotherapy is unpredictable, with a significant risk of poor response or side effects. Some of this variation in response can be attributed to genetic differences between patients in how they metabolise different antidepressants. Trials across different countries have demonstrated that genetic testing for these pharmacogenomic variants can inform prescribing decisions in the management of depression, and improve the likelihood of remission within three months. Sonic Genetics provides a comprehensive pharmacogenomic test with specific prescribing advice.

For more information, click here


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