Congenital anomalies affect an estimated 1 in 50 infants and are most commonly the result of genetic defects in the DNA. Splicing variants are a commonly suspected cause of genetic disorders and inherited cancers. The team has identified a unique method to meta-analyse genetic sequences using four biomarkers that can determine if a Splicing Variant will cause harm. GENEie uses these biomarkers to produce evidence that can be readily used.

GENEie has identified a unique method to meta-analyse genetic sequences and determine whether a Splicing variant is benign or capable of causing disease. This has been translated into a Clinical Decision Support Software which can produce clinical and statistical evidence to be interpreted by genetic clinicians. 

“GENEie hunts down and finds these almost impossible to detect genetic variants and it does it incredibly well. They’re called ‘variants of uncertain significance’ and that means that whether they cause disease or not is not clear, and so the doctors caring for the families can’t act on the evidence. So GENEie digs into all of the evidence available and provides it in a way that clinicians can really understand,” says Professor Sandra Cooper, Joint Head of Kids Neuroscience Centre. 

Metrics have shown that GENEie can diagnose Splicing Variants better than any other predictive methods. In 2019 and 2020, it has helped to diagnose four neonates subject to genomic sequencing from neonatal intensive care and more than 50 children with severe genetic conditions.

Although statistical and diagnostic metrics demonstrate overwhelmingly that GENEie outperforms all currently existing splicing prediction tools, clinicians are necessarily conservative in their acceptance of novel technologies. It is imperative that GENEie is subject to peer-reviewed clinical evaluation in order to deliver a product that is accepted by clinicians worldwide.

“There’s a real synergy now between data, mechanistic research and medicine. It enables an early diagnosis and an early intervention,” says Professor Cooper. 

GENEie is relevant to all genetic conditions and has been used to help diagnose the genetic basis for recurrent foetal death, congenital deafness and blindness, severe epilepsy, neurological conditions, neuromuscular conditions, liver disease, kidney disease, skin disease, childhood cancer.

Preventative medicine is arguably the most significant outcome from diagnoses that GENEie helps to provide, and its value for families cannot be underestimated. GENEie fills an exponentially expanding and critical need in genomic medicine, which will impact families with genetic disorders around the world.

Hear more from Professor Sandra Cooper.

Funds raised

$479,840

Project team

Professor Sandra Cooper, Joint Head of Kids Neuroscience Centre

Associate Professor Bruce Bennetts, Head of Molecular Genetics, Children’s Hospital at Westmead

Himanshu Joshi, co-inventor of GENEie methodology Chief Technical Officer, Frontier Genomics. Senior Data Analyst/Bioinformatist leading Genomics Informatics Group, KNC

Jason Borrie, Co-Founder/Executive Director, Frontier Genomics