Uncovering diseases hidden in our DNA with targeted next-generation genetic screening

Genepath, DNA sequencing, preventative health, new born health screening

Sydney-based Genepath Laboratories has now made genetic testing available to all families in Australia to identify inherited disorders before they cause disease, and their scientists believe that it is more reliable than genome-wide sequencing.

Using the latest DNA sequencing technology, Genepath developed a genetic test to detect disease-causing changes in our DNA for 65 medical conditions, including kidney and cardiac disorders, immune disorders and developmental problems.

Using recently released whole genome reference DNA samples from the National Institute of Standards and Technology USA, scientists at Genepath found that their targeted next-generation DNA sequencing test detected 5.2% more DNA variants in reference materials than whole genome sequencing approaches detected.

Genepath’s NextGen Test uses enrichment strategies to target specific genomic regions, rather than sequencing the entire genome.

Their findings are published in the Journal of Molecular Diagnostics.

“There are a lot of benefits of whole genome sequencing, but there are technical limitations. It’s not a silver bullet for everything,” said study lead Dr Shum, who is co-founder and Laboratory Director of Genepath, and Adjunct Senior Lecturer at Single Molecule Science in the Faculty of Medicine at UNSW Sydney.

“The test has been designed with clinical utility in mind. Everything we test for is treatable.

“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.”

The process is straightforward—DNA is collected at home, using a mouth swab, and sent to Genepath for testing, and a pathology report is then sent to your nominated doctor. The test is designed to complement the routine newborn heel prick test, and also available to children and young adults.  

“Many of the diseases we test for are often diagnosed when the damage is already done, and sometimes result in an unexplained sudden death,” said Dr Glenn Bennett, an emergency room doctor, and co-founder and Director of Clinical Services at Genepath.

Learn more about Genepath Laboratories here.

Date Published: 
Tuesday, 24 July 2018