Summary
Newborn screening (NBS) is one of the most successful population health programs, providing benefits to a target population through the early diagnosis of a serious health condition, enabling early management and better health outcomes.
In 2022 the Australian Government committed to increase equity of access and expand the number of conditions screened through the five newborn bloodspot screening (NBS) programs in Australia. These programs are managed and delivered along jurisdictional lines by State Health Departments under a federated health model.
In 2022, the Australian Genomics Health Futures Mission (GHFM) and National Health and Medical Research Council (NHMRC) awarded more than AUD$15 million across five research projects to explore how genomics might be incorporated within newborn screening programs. The projects are exploring the feasibility, effectiveness, and health economic, ethical and equity aspects of applying first- or second-tier genomics in local newborn screening programs.
The Genomic Screening Consortium for Australian Newborns (GenSCAN) was established as a collaborative forum with the twin aims of sharing and pooling findings from these projects to maximise the national policy impact of the publicly funded research and minimising the collective consultation burden on consumers and patient advocacy groups. GenSCAN is organised into six working groups, focusing on: clinical oversight and gene selection; technical platforms; bioinformatics and data analysis; ethical, legal and social issues; health policy and economics; and stakeholder engagement.
Projects
BabyScreen+
BabyScreen+ is a research study investigating the use of genomic testing as an add-on to standard newborn screening. This will increase the number of treatable, childhood-onset conditions that can be detected from 25 to over 500. The study will provide genomic newborn screening to 1000 Victorian babies, alongside standard newborn screening.
Project Lead
Associate Professor Sebastian Lunke
Head of the Division of Genetics and Genomics, Victorian Clinical Genetics Service
CIA BabyScreen+
Project Manager
Jade Caruana
Senior Project Coordinator, BabyScreen+
Contact information
Website: https://babyscreen.mcri.edu.au
Email: babyscreen@mcri.edu.au
Phone: 1800 959 823
Recruitment information
- Recruitment status: Closed
- Recruitment site: Victoria
EpiGNS
EpiGNs will examine if conditions linked to intellectual disability, autism, severe obesity and seizures can be identified as part of the heel prick test performed in the first year of life of 100,000 Victorian infants.
Detecting these conditions from birth can lead to life-altering effective treatment and care pathways, which are not possible without early diagnosis.
Project Lead
Associate Professor David Godler
Group Lead, Diagnosis and Development, Murdoch Children’s Research Institute
CIA EpiGNs
Project Manager
Mohammed Al-Shawsh
Program Coordinator, EpiGNS
Contact information
Website: https://www.mcri.edu.au/research/strategic-collaborations/centres/epi-genomic-newborn-screening-program
Recruitment information
- Recruitment status: GenV data linkage
- Recruitment site: Victoria
gEnomics4newborns
Adding genomic testing to Australia’s current newborn screening program could identify hundreds of additional genetic conditions and improve outcomes for infants and families. However, any such change to existing newborn screening programs would also bring with it a range of important ethical, legal, and social considerations which require input from a wide range of stakeholders. We must ask not only ‘can we use genomics to screen newborns?’ but ‘should we use genomics to screen newborns?’
Project Lead
Associate Professor Sarah Norris
Practice and Health Technology Assessment, University of Sydney
CIA gEnomics4newborns
Project Manager
Joanne Scarfe
Research Fellow, gEnomics4newborns
Contact information
Website: https://genomics4newborns.sydney.edu.au/
Recruitment information
- Please note, this project is about investigating how we should assess the ethics, equity effectiveness and economic aspects of using genomics in newborn screening. We are not conducting genomic sequencing as part of this study.
- Recruitment site: New South Wales
NEWBORN GEN SEQ TRAIL
The NEWBORN GEN SEQ TRAIL (Newborn Genomic Sequencing: Therapy Ready And Information for Life) or the TRAIL study is based out of the Sydney Children’s Hospitals Network in NSW. This study is exploring the feasibility and clinical utility of genomics as a compliment to standard biochemical newborn bloodspot screening.
Project Lead
Clinical Professor Bruce Bennetts
Principal Scientist/Head of Department, Molecular Genetics, The Children’s Hospital at Westmead
CIA NEWBORN GEN SEQ TRAIL
Project Manager
Shelley Pirreca
TRAIL Project Manager
Contact information
Website: https://kr.schn.health.nsw.gov.au/our-research/research-initiatives/newborn-gen-seq-trail
Email: schn-trail@health.nsw.gov.au
Recruitment information
- Recruitment status: Currently recruiting
- Recruitment site: New South Wales
NewbornsInSA
NewbornsInSA is a research study looking to detect treatable childhood conditions earlier in babies born in South Australia. Our research aims to identify babies with serious genetic conditions earlier than current methods by using ‘genomic (DNA) screening’ with the goal of facilitating earlier treatments for babies in need.
Project Lead
Associate Professor Karin Kassahn
Head of Technology Advancement Unit, SA Pathology
CIA NewbornsInSA
Project Manager
Lucy Anastasi
Project Manager, NewbornsInSA
Contact information
Website: https://www.wch.sa.gov.au/research/newbornsinsa-research-study
Email: Health.SAPathologyNewbornsInSA@sa.gov.au
Recruitment information
- Recruitment status: Currently recruiting
- Recruitment site: South Australia
NeoScreen Initiative: Targeted, Adaptive Genomics for Ethical, Evidence-based Expansion of Newborn Screening
The Implementation to Impact (i2i) team at the University of New South Wales School of Population Health are leading two Medical Research Futures Fund (NHMRC) grants to support ethical national expansion of targeted gene sequencing testing in Australian Newborn Bloodspot Screening Programs. This includes developing critical research infrastructure in Queensland for an expansion of genetic testing, including a clinical effectiveness-implementation trial. Key project activities include: informed consent process reform; psychosocial study of parent/clinical attitudes; infrastructure development and clinical effectiveness trials for gene sequencing; new condition selection, care pathway design, and health economics analyses; and a national roll-out design regarding health policy and strategy research and design.
Project Lead
Associate Professor Natalie Taylor
Director, Implementation to Impact (i2i)
Project Manager
Deborah Johnston
Research Project Manager, Implementation to Impact (i2i)
Contact information
Website: https://www.unsw.edu.au/medicine-health/our-schools/population-health/research/specialist-techniques-and-tools/implementation-science
Recruitment information
- Recruitment status: Project staffing complete. Participant recruitment in planning and ethical review stage.
- Recruitment site: Queensland (statewide) and top-end Northern Territory
Project Leads
Professor Bruce Bennetts
Principal Scientist/Head of Department, Molecular Genetics, The Children’s Hospital at Westmead, CIA NEWBORN GEN SEQ TRAIL
A/Professor David Godler
Group Lead, Diagnosis and Development, Murdoch Children’s Research Institute, CIA EpiGNs
A/Professor Karin Kassahn
Head of Technology Advancement Unit, SA Pathology, CIA NewbornsinSA
A/Professor Sarah Norris
Practice and Health Technology Assessment, University of Sydney, CIA gEnomics4newborns
A/Professor Sebastian Lunke
Head of the Division of Genetics and Genomics, Victorian Clinical Genetics Service, CIA BabyScreen+
A/Professor Natalie Taylor
Director, Implementation to Impact (i2i), CIA NeoScreen Initiative: Targeted, Adaptive Genomics for Ethical, Evidence-based Expansion of Newborn Screening
GenSCAN Steering Committee Members
View committee
- Mohammed Alshawsh, Project Coordinator, EpiGNs
- Lucy Anastasi, Project Coordinator for NewbornsinSA
- Gareth Baynam, Clinical Geneticist and Clinical Genomics Policy Advisor WA Health
- Kirsten Boggs, Chair of the GenSCAN Ethical, Legal and Social Implications Working Group, Senior Genetic Counsellor, Sydney Children’s Hospitals Network, Australian Genomics
- Tiffany Boughtwood, Managing Director, Australian Genomics
- Bruce Bennetts, Principal Scientist/Head of Department, Molecular Genetics, The Children’s Hospital at Westmead
- Belinda Burns, Manager, Office of Population Health Genomics, Western Australian Department of Health
- Jade Caruana, Senior Project Coordinator BabyScreen+
- David Godler, Group Lead, Diagnosis and Development, Murdoch Children’s Research Institute
- Gladys Ho, Chair of the GenSCAN Technical Working Group, Senior Hospital Scientist, Molecular Genetics, The Children’s Hospital at Westmead
- Deborah Johnston, Research Project Manager, Implementation to Impact (i2i)
- Karin Kassahn, Chair of the GenSCAN Bioinformatics and Data Analysis Working Group, Head of Technology Advancement Unit, SA Pathology
- Sebastian Lunke, Head of the Division of Genetics and Genomics, Victorian Clinical Genetics Service
- Sarah Norris, Chair of the GenSCAN Health Policy and Economics Working Group, A/Professor of Practice and Health Technology Assessment, University of Sydney
- Hashim Periyalil, Clinical Evaluator, Department on Health and Aged Care
- Enzo Ranieri, Principal Scientist, Head of NSW Newborn Bloodspot Screening Program
- Joanne Scarfe, Research Manager, gEnomics4newborns
- Melanie Shakespear, Director, Department of Health
- Zornitza Stark, Chair of the GenSCAN Clinical and Disease Curation Working Group, Clinical Geneticist, Victorian Clinical Genetics Service
- Natalie Taylor, Director, Implementation to Impact (i2i)
Project Coordinator
Shelley Pirreca
NSW Coordinator
Contact
michelle.pirreca@health.nsw.gov.au