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Genetic pathology


Genes are the fundamental source of biological information that guides cells, tissues, and people in their development and their response to the environment. The fundamental nature of this information has provided staggering insight into the risks, pathogenesis and natural history of disease. However, it is important to note that factors other than genetics will also play a role. Hence a genetic test is not necessarily proof that a person will develop a condition, or that a genetic abnormality is the only reason for a disorder.

The videos in this section have been created to inform this understanding and the genetic pathologists at Sonic Genetics are available for consultation with you to clarify the scope of a test and its relevance in a particular context.

Familial Hypercholesterolaemia

Assoc. Prof. Damon Bell presents how general practitioners can optimise the detection and treatment of familial hypercholesterolaemia and enable patients to avail of the Medicare rebate for genetic testing introduced in May 2020.

Pharmacogenomics – an introduction for clinicians

Pharmacogenomics is the analysis of genes involved in drug metabolism and action to inform prescribing decisions. By personalising the choice of drug and dose, patient outcomes can be improved and the risk of adverse reactions reduced. This presentation provides an introduction to the field of pharmacogenomics and to the tests provided by Sonic Genetics. Presented by Prof. Graeme Suthers.

Carrier screening

Rapid advances in genetic testing methods have made it possible to screen potential parents for the presence of recessive disorders. This represents a major step in providing couples with information about the chance of them having a child with a serious genetic disorder. Professional guidelines now recommend that this reproductive carrier screening be offered to all women who are considering pregnancy or are in early pregnancy. Professor Graeme Suthers presents the theory and practicalities of reproductive carrier screening in your practice. 


Non-invasive prenatal testing can be regarded as the first genomics test to enter mainstream clinical practice. It has revolutionised the expectations and use of antenatal screening for chromosome disorders. Professor Graeme Suthers provides a user-guide for doctors wanting to understand how to effectively use this test in antenatal care.

Lactose intolerance

The inability to digest lactose can either be temporary or a lifelong consideration for your patient. Professor Graeme Suthers discusses the science and utility of a genetic test which identifies people of all ages who have a lifelong ability to digest lactose – and shows how this can help in the management of symptoms of lactose intolerance.  


There are a number of genetic tests of breast cancer that provide an estimate of the risk of distant recurrence; some tests also indicate the chemo-sensitivity of the tumour. Are these new tests any better than conventional risk factors such as tumour size, grade and immunohistochemistry? And which one performs the best? Professor Graeme Suthers presents an analysis of the performance of these tests, highlighting that familiar concepts of test performance remain relevant for these sophisticated investigations.  

Choosing the right genetic test

Genetic test methods and knowledge have been changing so rapidly that doctors can feel overwhelmed by the prospect of using such tests well. Using reproductive carrier screening as an example, Professor Graeme Suthers provides an overview of genetic tests, demonstrating that familiar concepts of wise test selection and interpretation apply in genetics as in every field of pathology.