Implementing breakthrough genetic testing into routine newborn care
Multidisciplinary research to expand population newborn screening programs.
Addressing Decision Making Criteria in the Australian National Policy Framework
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 |
Targeted Genomic Newborn Screening Clinical Utility: Feasibility, Throughput & Cost Effectiveness
Targeted Genomic Newborn Screening Analytical Validity: Sensitivity & Specificity
Targeted Genomic Newborn Screening Clinical Validity: Spinalmuscular Atrophy:
Targeted Genomic Newborn Screening Clinical Validity: Cystic Fibrosis
Targeted Genomic Newborn Screening Ethics, Legal & Social Issues
Current projects
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
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
Implementation of targeted genomic newborn screening tests in population health programs
Researchers
Dr Glenn Bennett, Genepath Chief Medical Officer & UNSW Adjunct Research Fellow
Glenn is co-founder of Genepath and Adjunct Fellow at the UNSW School of Population Health. His interests are in population health, in particular the research sector, regulatory, and health system decision making barriers to implementing novel technologies.
Dr Bennett Shum, Genepath Chief Scientific Officer & UNSW Adjunct Senior Lecturer
Ben is co-founder of Genepath and Adjunct Senior Lecturer at the UNSW School of Biomedical Sciences. His interests are in harnessing private sector expertise to overcome research silos and develop feasible technologies for public good.
We have used “out of the box thinking” and lean engineering techniques to develop a feasible next generation DNA sequencing test for high throughput population screening. Through extensive feedback we have identified barriers and facilitators to implementation of this technology into newborn screening programs, and are working with partners to generate the system change need to allow Australian families to benefit from this technology now.
Publications
Feasibility of high throughput next generation newborn screening using targeted gene sequencing for population screening
