The Australian Targeted Newborn Screening Research Collaborative
Multidisciplinary research to expand population newborn screening programs.
We undertake projects to address Decision Making Criteria in the Australian Newborn Bloodspot Screening National Policy Framework, to help policy makers improve newborn screening in every state across Australia.
Research partners
Research grants
Medical Research Future Fund,
Clinical Trial Activity
Type 2 implementation/clinical effectiveness trial of targeted gene sequencing newborn screening
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 Gene Sequencing 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 |
Atlas Targeted Sequencing Clinical Utility: Feasibility, Throughput & Cost Effectiveness
Atlas Targeted Sequencing Analytical Validity: Sensitivity & Specificity
Atlas Targeted Sequencing Clinical Validity: Spinalmuscular Atrophy:
Atlas Targeted Sequencing Clinical Validity: Cystic Fibrosis
Atlas Targeted Sequencing Ethics, Legal & Social Issues
Current projects
Parent acceptability of targeted 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
Health economics of next generation 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 newborn screening
Researchers
Dr Bennett Shum, Genepath CEO & UNSW Adjunct Senior Lecturer
Ben is co-founder of Genepath, a medtech startup that pioneered research into next generation newborn screening. He is an Adjunct Senior Lecturer at the UNSW School of Biomedical Sciences and an industry mentor for the UNSW Founders startup program. His research interests include using genomic technologies for public health and understanding DNA variation through functional genomics.
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 implementation science, in particular co-design of newborn screening models of care with advocacy groups and the health economics of genomic population screening tests.
Over a 7-year period we have been researching the clinal effectiveness of targeted genomic newborn screening. In our latest 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 10,000 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 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
