Genepath has launched in Australia with the NextGen test, addressing a gap in current preventive health and placing Australia very much at the forefront of Next-Generation DNA Sequencing screening tests for serious genetic conditions.
The NextGen test is a cutting-edge, highly sophisticated genetic screening test that looks for multiple treatable conditions that can cause problems at various stages of life. Designed to be used in conjunction with the existing newborn screening test (the 'heel prick test') offered by all Australian states, it now gives Australian families the opportunity to have the most comprehensive newborn screening currently available in this country.
The NextGen test screens for more than 60 serious medical conditions, 50 of which were previously not screened for in Australia. Genetic counselling is available with the purchase of the test and integral to the process. The results are sent to the individual's nominated doctor who then explains them in detail.
Dr Glenn Bennett, Genepath's Director of Clinical Services says, "Our specialist genetic pathology practice approaches genetic testing in a way that's never been seen before in Australia. Advancements in genetic testing and DNA sequencing have been significant in recent years. As the technology progressed, we saw the potential of using Next-Generation DNA Sequencing in the area of preventive health for babies and children and realised there was a significant opportunity to help improve the lives of many Australians."
Clinical Geneticist Dr Mary-Louise Freckmann agrees, and is optimistic that the NextGen test will help Australian families.
"As a geneticist, the opportunity to use genetic testing to prevent or manage future health problems is exciting. This test screens for serious genetic conditions. Usually patients and families are not aware of these conditions until they begin to show symptoms. Screening using NextGen DNA Sequencing technology could identify conditions on the panel in the first few weeks or months of life, prior to the onset of symptoms. The opportunity to access available therapies at this stage can result in a much more positive future. Access to genetic counselling as part of the testing process is very important in understanding the potential impact of diagnosis and support throughout."
The test is a painless mouth swab that can be administered by any adult. While the test can be taken by people of all ages, the major benefit is for newborns as most of the conditions tested for tend to cause problems during the first year of life.
Examples of the genetic conditions the NextGen test screens for include some of the genetic causes of sudden cardiac death in children and Familial Hypercholesterolaemia (FH), one of the major causes of preventable heart disease in young adults.
There is good evidence to suggest that all Australian children should be screened for FH. This easily treatable condition affects blood vessels in children which significantly increases risk for heart attacks in young adults. It is under diagnosed in Australia as there is no nationwide screening program. It is estimated that more than 77,000 Australians have FH of which 80% (that is 61,000 people) have not yet been diagnosed. FH is one of more than 60 conditions screened for by the NextGen test.
"The NextGen test is revolutionary in a number of ways," explains Genepath's Laboratory Director, Dr Ben Shum. "We can now identify genetic conditions with DNA sequencing before any symptoms become apparent and start treatment or make the necessary lifestyle changes so that, in many cases, those conditions will never become symptomatic. That is the essence of preventive health."
Dr Shum continues, "The parents we've already spoken with have been very excited about the NextGen test – particularly the fact that it is easily accessible and can be ordered online and administered by the parents, who then send it back to our Australian lab for testing. The test includes genetic counselling to ensure parents are fully informed and a report is sent to a doctor they nominate who can explain the results. We see enormous potential in this test and want to make it easily accessible to all Australians, so we've tried to make the process as simple as possible."
Sydney Mum of two, Karyn Henner recently chose to have her daughter, Michelle and son, Max screened with the NextGen test.
"We decided to have our children screened because it made sense to us. Who wouldn't want to be armed with information about future health problems their child might experience?
The test itself was super simple – we swiped the sponge provided in the test kits around the inside of the cheek, then packed it up as instructed and sent it off to the lab. We were notified when the report was sent to our GP, and then had a consultation with him to go through the results. The peace-of-mind we feel after having done the test is indescribable," says Mrs Henner.
Genetic testing for health screening is set to take on an increasing role in preventive health in coming years. In particular, screening newborns for multiple treatable conditions may allow them to access treatment before problems arise.
The NextGen test is now available to all Australians through the Genepath website at https://www.genepathlabs.com.au
Question: What is the NextGen test?
Dr Glenn Bennett: The NextGen test from Genepath aims to identify more than 60 serious but mostly treatable genetic conditions in newborns before symptoms arise, so that treatment can be started to prevent complications. It is a preventive health test to give Australian children the healthiest start to life possible.
Question: How is the NextGen test administered?
Dr Glenn Bennett: The test is a painless mouth swab, which can be collected from a baby or young child by a healthcare professional, or at home by a parent. Swabs are sent in a specially designed kit to Genepath for testing, with all analysis done in Australia.
Question: What does the NextGen test show?
Dr Glenn Bennett: The NextGen test screens for more than 60 serious but mostly treatable medical conditions in newborns and young children. Parents obtain the results from their doctor who will talk through the report and will be able to advise and assist if further testing, treatment or referral to a specialist is required.
Question: How does the NextGen test address the current gap in preventive health? The NextGen test allows Australian babies and children access to preventive health testing which is available overseas but not in Australia.
Australia currently screens for about 25-35 conditions in newborns through the heel-prick blood test done around 2 days after birth. The US screens for up to 80 conditions. The NextGen test, when used alongside the current newborn screening test, allows Australian children to have the most comprehensive newborn screening currently available in Australia.
The test enables serious genetic conditions to be identified before any symptoms become apparent and enables treatment to be started early so that, in many cases, those conditions will never become symptomatic. That is the essence of preventive health.
Question: What treatable conditions does the NextGen test show?
Dr Glenn Bennett: A fill list of conditions screened for can be seen here – Conditions Tested
The NextGen test screens for some of the genetic causes of SIDS and sudden cardiac death in children, and Familial Hypercholesterolemia (FH), one of the major causes of preventable heart disease in young adults.
There is good evidence to suggest that all Australian children should be screened for FH. This treatable condition affects blood vessels in children which significantly increases risk for heart attacks in young adults. It is under diagnosed in Australia as there is no nationwide screening program. It is estimated that more than 77,000 Australians have FH of which 80% (that is 61,000 people) have not yet been diagnosed.
Question: What do you hope to achieve from the NextGen test?
Dr Glenn Bennett: To give Australian families access to the latest preventive health testing to allow them to proactively manage their health: www.genepathlabs.com.au
Interview by Brooke Hunter