People at risk of genetic diseases could have a better chance of
diagnosis in the future after scientists successfully trialled new
gene testing technology in Australian and New Zealand patients.
The groundbreaking study by the Murdoch Childrens and Broad
Institute of MIT and Harvard, USA, used "next-generation" DNA
sequencing to test more than 100 genes simultaneously to identify
mutations that cause a group of rare genetic diseases.
Unlike current tests, which test one gene at a time, this
technology allows scientists to screen many genes at the same time
to establish a diagnosis more quickly and cost-effectively.
"Some conditions can be caused by mutations in a wide range of
different genes, so testing one gene at a time can be a slow and
expensive process and it is often not possible to sequence all
relevant genes due to cost," co-author A/Professor David Thorburn
said.
"Next-generation DNA sequencing methods could transform the
diagnosis of genetic diseases by allowing us to test many genes at
once, and this study shows that it can work effectively."
The study was published in Nature Genetics.