Stamp of approval for exome sequencing to diagnose rare childhood illness

Victorian children will be amongst the first in Australia to have access to clinical genomic testing after the Victorian Clinical Genetics Services (VCGS) received accreditation from the National Association of Testing Authorities (NATA) for its whole-exome sequencing service.

VCGS’s new accreditation means young children with serious genetic disorders will be able to access this revolutionary testing as part of their clinical care. Previously, whole-exome sequencing through Victorian testing laboratories was only available to patients involved in research studies.

It is terrific news that the test is now approved and accredited. However it is not yet adequately funded. Some families may be eligible through genetics services or genomics initiatives in different states like the Melbourne Genomics Health Alliance. In some cases, the tests which cost approximately $2000, would need to be paid directly by families who are not eligible to access support to cover the costs.

VCGS is based at the Murdoch Childrens Research Institute (MCRI) and joins only a handful of medical testing laboratories in Australia to hold this accreditation, and is the only site in Victoria to offer a fully accredited clinical genomics service.

Exome sequencing uses a technology called Next Generation Sequencing which is different to traditional gene testing because it enables all 20,000 genes to be tested at the same time.

The strength of VCGS’s approach to exome analysis is the close collaboration between clinical geneticists, genetic counsellors, and laboratory scientists. This ensures the most comprehensive investigation into possible causes of a child’s presenting condition.

According to VCGS Laboratory Director, Dr Damien Bruno, exome sequencing has improved diagnosis rates for families of critically ill children, who may have previously undergone years of testing without any answer to the cause of their illness.

“In the past, young children have been through an arduous diagnostic odyssey that included months or years of invasive blood tests and painful biopsies. Some waited on lists for several years to access genetic testing through research trials.

“Now, with the availability of clinical exomes, we can provide answers to families within weeks and for the most urgent cases, answers may be available in as little as 10 days. We have been able to have a huge impact on the lives of seriously ill children to prevent them going through the often-harrowing diagnostic ordeal in the first place.”

Dani’s McLennan’s son, four year old Jakob, has an extremely rare condition called CHOPS syndrome. Jakob had a complex set of problems, including unexplained poor growth, unexplained respiratory problems, learning problems and deafness. The test was able to confirm Jakob’s diagnosis. Without access to this testing which led to a diagnosis, Jakob would have had to continue to have invasive and painful tests looking for causes of his health problems. This can stop now and there can just be a focus on treating his condition.

Professor Kathryn North, Director of MCRI and leader of the Australian Genomics Health Alliance (AGHA), said the stamp of approval from NATA positioned VCGS and MCRI as one of the leaders in genetic testing nationally.

“MCRI and VCGS are at the forefront of clinical genomics, which is the most exciting health initiative in Australia. NATA accreditation means our labs are considered amongst the best in the country, and our staff and processes are deemed to meet very rigorous technical competency and clinical standards.

VCGS also provide an in-house high quality genetic counselling service to support families through this often-difficult time.

(Source: Murdoch Children’s Research Institute)