Victorian Clinical Genetics Services (VCGS) and Melbourne Genomics Health Alliance are celebrating the milestone of 100 Australian families who now have an answer for their child’s previously undiagnosed genetic disorder – thanks to clinical genomic sequencing.

Through the work of the team led by Associate Professor Sue White (Deputy Director of Clinical Genetics Service at VCGS) and Dr Sebastian Lunke (Head of the Translation Genomics Unit at VCGS), patients and their families are now getting answers to serious and debilitating health concerns that were previously unsolved.

VCGS is one of only a few pathology providers in Australia to receive accreditation from the National Association of Testing Authorities (NATA) for its whole exome sequencing service, known as “Clinical Exomes”. VCGS, through its “augmented” exome capture platform, and the close collaboration of a highly skilled team of clinical geneticists, genetic counsellors, laboratory scientists and bioinformaticians, provides a unique and comprehensive Clinical Exome service. See VCGS for more information about Clinical Exomes.

“Some of the diagnoses made have meant a change in care which is a significant benefit for children and their families.” said Associate Professor White. “In some children, ineffective treatments were stopped, while in others, we have been able to put in place early monitoring for related health complications. It’s pretty clear that a diagnosis helps doctors take the best care possible of their patients, and in children with suspected syndromes, this test delivers diagnoses in more than half of those tested.”

One of the 100 children to gain a diagnosis is two-year-old Nelle Hookins, who was diagnosed with Cohen syndrome after undergoing Clinical Exome sequencing. World-wide, only a thousand cases of Cohen syndrome are known, and Nelle is one of the youngest patients in the world to be diagnosed with Cohen syndrome. She had 11 admissions to hospital and 15 appointments with specialists over 18 months searching for an answer. The diagnosis means Nelle’s family and paediatrician can now focus on managing her condition and help her to achieve her potential. You can read more about Nelle’s story at MCRI.

Through Clinical Exome sequencing, children with undiagnosed genetic conditions are five times more likely to receive a diagnosis when compared to standard testing approaches. This results in a more efficient use of valuable resources and reduces the diagnostic odyssey that is experienced by many children and their families. Delivering answers to more than 100 families shows that VCGS is at the forefront of bringing genomic sequencing to Australian families.