Genetic testing expansion results in urgent need for national policy

Published on February 22, 2013 at 10:21 AM · No Comments

The Royal College of Pathologists of Australasia (RCPA) has announced new findings from nationwide research on the country’s genetic testing.  The RCPA was contracted in 2012 by the Department of Health and Ageing to conduct its second survey on genetic testing.  The findings were analysed by spokesperson on genetic testing for the RCPA, Professor Graeme Suthers, and Dr Kym Mina, Genetic Pathologist and Project Officer for the survey. 

Professor Suthers reveals that genetic testing is expanding dramatically resulting in an urgent need for a national policy and program to gain more structure, funding and new positions throughout the country.

The survey documents medical genetic testing performed during 2011, by accredited cytogenetics, biochemical genetics and molecular genetics laboratories.  The information was sought on volumes and types of testing available, the purposes of testing and sources of funding.

“We undertook our first nationwide survey on genetic testing in 2006.  Federal Government agreed that it was vital to repeat our survey in 2011 in order to gauge what had changed in five years.  What we’ve found is that genetic testing is expanding dramatically across the country.  The RCPA is working with the Department of Health and Aging to develop a national framework for genetic testing to manage the major structural changes that are needed throughout the profession,” says Professor Suthers.

Professor Suthers says, with thousands of different tests available, the whole discipline of genetic testing is growing dramatically, both in the types of tests and also in the volume of tests. 

“We need to future-proof our laboratories, decide how genetic testing should be structured and how we can fund this increased demand and new positions.  Our research shows that the number of types of tests has increased by 5% per year, that is, 25% over the past five years, which means that labs are constantly growing their test repertoire.  This means that we also need new staff and new positions for the new experts that this testing requires.  In terms of volume, the number of assays has increased by 25% per year, that is, 280% over the past five years.  This is an extraordinary increase in the number of tests being carried out, in both diversity of testing and volume of testing,” says Professor Suthers. 

Close to 580,000 medical genetic tests were performed across all disciplines in 2011.  Despite the increases since 2006, the proportion of tests funded by the Medicare Benefits Schedule (MBS) has changed little, and the sending of samples to overseas laboratories is a small proportion of total assays requested nationally. 

“From a functional point of view, there are major issues to be addressed.  When making comparisons between states - looking at factors such as the number of tests done, the types of tests available, and also who paid for the tests - we found that numbers vary dramatically depending on where the patient is located.  Put simply, this is unfair and untenable.”

“We need a system in place where people are trained to meet this transition.  There is a revolution happening inside the laboratory and we need to adapt to this change.  Also the methods by which DNA tests are done are also changing which allow genomic testing.  Of course the answers to meeting these demands are different for each type of increase – whether it is type of test or volume,” says Suthers.

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