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Realising the potential of genomic newborn screening
 
 
 
 

The Australian Targeted Genomic Newborn Screening Research Collaborative

Multidisciplinary research to expand population newborn screening programs.

 
 
 
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Projects to address Decision Making Criteria in the Australian National Policy Framework, to help improve newborn screening across Australia.

 

Research partners

 
 
 
 
 

 Research grants

 

Medical Research Future Fund,
Critcial Research Infrastructure Initiative

Targeted gene sequencing newborn screening pilot of 60,000 newborns in real time starting 2025

2024 : $8.3 million

Medical Research Future Fund,
Clinical Trial Activity

Implementation/effectiveness trial of targeted gene sequencing for first tier newborn screening of 10,000 neonates

2022 : $3 million

Pathology
QueenslAnd

Feasibility of targeted gene sequencing for newborn screening

2020 : $300,000

Bioplatforms
Australia

Technical validation of targeted gene sequencing for newborn screening

2017 : $10,000

 
 
 

Targeted Genomic Newborn Screening

Published Prospective Studies

Atlas Targeted Sequencing Chen et al 2023 Hao et al 2022
Validation study 2552, population sample, prospective 29601, multicentre, prospective 3923, multicentre, prospective
Analytical validity Sensitivty & specificity >99% not published not published
Clincal validity 16 diseases, blinded challenge samples PPV 50%, 24 diseases 5 diseases
Clincial feasbility Turnaround time 7-10 days Not published Turnaround time < 11 days
Sample failure 0% 1.2% Not published
Throughput Batch size 1536 samples Not published Not published
Cost effectiveness Cost/diagnsois AUD 7,500 Not published Not published
Ethics, legal & social issues Reduces inequity for multiethnic populations Not published Not published
 
 

 Current projects

 

Parent acceptability of targeted genomic newborn screening

Researchers

Dr Brittany McGill, B.PSYCH(HONS), M.PSYCH(CLIN)

Dr Brittany McGill is a Clinical Psychologist and Research Fellow at the Behavioural Sciences Unit, which is part of both UNSW Medicine & Health and the Sydney Children’s Hospital. She is passionate about improving psychosocial outcomes for families of children and young people impacted by serious illnesses (including genetic conditions), and helping patients to navigate new genomic technologies.

Dr Glenn Bennett, Genepath Chief Medical Officer & UNSW Research Fellow

Glenn is co-founder of Genepath and Research Fellow at the UNSW School of Population Health. His research interests are in population health science, in particular co-design of newborn screening models of care with advocacy groups.

We are researching parent attitudes towards targeted gene sequencing for newborn screening to find out whether they feel this new technology should be incorporated into newborn screening programs. 120 children will receive a targeted gene sequencing test for 132 genes and parents will be followed for 6 months to determine their experience of the test and identify what information they need to know in order to understand the test.

Research In this area

Parents’ understanding of genome and exome sequencing for pediatric health conditions: a systematic review

 
 

 
 

Health economics of targeted genomic newborn screening

Researchers

A/Prof Bonny Parkinson

Bonny Parkinson is an Associate Professor at the Macquarie University Centre for the Health Economy, which is part of both the Macquarie Business School and the Australian Institute of Health Innovation. Her research interests include pharmaceutical policy in Australia, researching economic evaluation of healthcare interventions and technologies methodology, and analysing linked administrative data to inform economic evaluations.

Dr Varinder Jeet

Dr Varinder Jeet is an established health economist passionate about improving healthcare systems and promoting equitable access to quality medical services. He works for the Macquarie University Centre for the Health Economy, a part of the Australian Institute of Health Innovation and Macquarie Business School. Varinder is interested in economic modelling for therapeutic interventions, genetic testing/clinical genomics, cancer studies, and equity and public policy research.

We are researching the cost effectiveness of 2 conditions included in a targeted gene sequencing test for 132 genes. 10,000 newborns will receive the test and be followed for 12 months to determine the cost effectiveness of including familial hypercholesterolaemia and biotinidase deficiency in newborn screening.

Research in this area

Validation and cost effectiveness of a high throughput genomic newborn screening test using targeted gene sequencing

 

 

Clinical effectiveness of targeted genomic newborn screening

Researchers

Dr. Kobus Ungerer, Director Chemical Pathology, Pathology Queensland

Kobus Ungerer oversees the Chemical Pathology service for the public sector in Queensland, including the Newborn Screening unit. His research interests span several areas within laboratory medicine, with a strong focus on translating research into clinical practice. He is currently leading the implementation of a novel Targeted Gene Sequencing technology aimed at expanding the Newborn Screening program.

Dr Carel Pretorius, Pathologist, Chemical Pathology, Pathology Queensland

Carel Pretorius is a senior chemical pathologist at Pathology Queensland and holds an associate professor position at the University of Queensland. His primary focus is on clinical biochemistry, and he has contributed to a better understanding of biochemical processes and advances in diagnostic methods, particularly in the context of metabolic disorders. He is passionate about translating state-of-the-art diagnostic methods, such as targeted gene sequencing, into routine clinical practice.

Over a 5-year period we have been researching the clinical effectiveness of targeted genomic newborn screening. In our first project we tested 2552 newborns to determine the feasibility of incorporating this new technology into population health programs. In our next project we will screen 60,000 newborns to determine turnaround time, and a number of metrics of accuracy.

Publications

Technical validation of next generation newborn screening

Next generation newborn screening for spinal muscular atrophy

Next generation newborn screening for cystic fibrosis

 
 

 
 

Implementation of targeted genomic newborn screening tests in population health programs

Researchers

Dr Carolyn Mazariego

Dr Carolyn Mazariego is an early career implementation scientist and health services researcher. She specialises in implementation strategy design, process mapping, co-design/creation, and hybrid trials. Under the guidance of A/Prof. Taylor, Dr Mazariego will lead the targeted genomic NBS implementation strategy design.

A/Prof. Natalie Taylor

A/Prof. Natalie Taylor is a senior implementation scientist and health services researcher. A/Prof. Taylor is pioneering a combination of implementation research with statistical modelling and health economics to test the cost-effectiveness of implementation interventions and explore ways to identify the active ingredients behind successful implementation of new treatments, technologies, policies, and guidelines. She is the Principal Chief Investigator on the MRFF targeted genomic NBS grant.

We are investigating the barriers and facilitators to implementation of this technology into the population newborn screening programs. We are investigating the strengths and weakness of current consent pathways, determining models of care for conditions included in the target gene sequencing test and asking parents and clinicians to evaluate these.

Publications

Feasibility of high throughput next generation newborn screening using targeted gene sequencing for population screening

 
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