Targeted Next- Generation DNA Sequencing to Improve Newborn Screening

Photos of newborn babies

A world-first feasibility study conducted in Australia via a public and private sector collaboration, has realised the potential of DNA sequencing to expand and improve population newborn screening. Launched today, the findings of the study are published in Clinical Chemistry and entitled ‘Feasibility of targeted gene sequencing for expanding population newborn screening. The study was co-led by Dr Bennett Shum, Co-founder of Genepath and Adjunct Senior Lecturer in the UNSW Medicine & Health's School of Biomedical Sciences.

Genepath, a privately owned Australian biotechnology company, and Pathology Queensland collaborated to conduct the study. The study provides proof of concept for incorporating targeted gene sequencing into population newborn screening to improve the health of all Australian children. This technology is based on next-generation DNA sequencing technology and allows hundreds of genes to be simultaneously analysed for variations that cause genetic diseases. This enables screening for multiple genetic conditions using a single test.
Genepath developed its fast, accurate and scalable platform called ATLAS, for improving high throughput population newborn screening and which has been technically validated over a 7-year period. It can identify multiple genetic conditions such as Familial hypercholesterolaemia, spinal muscular atrophy, severe combined immunodeficiency, sickle cell disease, X-linked adrenoleukodystrophy and Duchenne muscular dystrophy.

Dr Glenn Bennett, Genepath’s Chief Medical Officer and Adjunct Fellow, School of Population Health at UNSW Sydney says, “With this study we have proved the technical feasibility of this breakthrough genetic testing technology. Should we implement this approach targeting 165 genes, we expect about 1.3% of all babies screened to test positive for a specific condition. Thus, we would expect about 700 new cases to be diagnosed in the 60,000 babies screened per year in Queensland. This would increase the yield of current newborn screening tenfold.”

He continues, “Whole population newborn screening is a highly effective public health intervention as it reduces death and disability from treatable genetic diseases. Via our collaboration with Pathology Queensland, we have realised the potential of targeted gene sequencing to greatly improve newborn screening programs using our ATLAS platform.”

Dr Jacobus Ungerer, Director Chemical Pathology, Pathology Queensland says, “This private- public sector collaboration enabled us to develop a novel approach to expand newborn screening programs. Introducing targeted gene sequencing will enable the diagnosis of serious treatable genetic conditions in numerous babies. The health and economic benefits to society will be substantial.”

Targeted newborn screening could be incorporated into existing public health screening programs and could potentially expand NBS and allow early detection for serious conditions previously not screened. The technology designed, developed and now validated in Australia is flexible and can test for carefully chosen conditions that have treatment available, without revealing an individual’s entire genetic make-up. Targeted gene sequencing can screen for conditions according to national policy guidelines and can have new conditions easily added.

Louise Healy, Vice President of the Metabolic Dietary Disorders Association (MDDA) comments. “Early diagnosis and treatment of serious genetic disorders is life changing. Our family are so grateful that newborn screening provided the opportunity for early diagnosis and treatment of our daughter. Untreated metabolic disorders like phenylketonuria (PKU) are devastating if undiagnosed and untreated, in the case of PKU causing irreversible brain damage. Our daughter’s PKU has been treated since she was 4 days, giving the opportunity to realise her full potential. I think this is what every parent wants for their child and it is wonderful that medical advances will give this opportunity to other families.”

Following the validation of this breakthrough approach, research into its possible implementation will now commence with a small-scale pilot of targeted newborn screening starting in August 2023 and full-scale pilot in Queensland in the planning for mid 2024. These critical next phases will ensure that these scientific advances can be incorporated into clinical practice, with established care pathways in place.

Genepath is a privately-owned life sciences company. Its journey from start-up to translation of its world first targeted gene sequencing technology has been supported by funding from its shareholders and the Commonwealth, NSW and QLD governments. 

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Date Published: 
Tuesday, 1 August 2023