Newborn Gen Seq TRAIL study

Newborn Gen Seq TRAIL study


Supporting a national effort in the exploration of the potential use of genomics in newborn screening programs.

As the research arm of the Sydney Children’s Hospitals Network (SCHN), Kids Research is jointly leading a study that will provide high quality evidence to inform the potential integration of new models of genomic sequencing in newborn bloodspot screening (NBS) programmes. The study is called the Newborn Gen Seq TRAIL (Newborn Genomic Sequencing: Therapy Ready And Information for Life) study.

Teams involved in this study include the Sydney Genome Diagnostics services and Newborn Screening program within the Western Sydney Genetics Program.


The Newborn Gen Seq TRAIL study will accelerate our understanding of the capabilities for using genomic sequencing technologies as a complement to newborn screening programmes, assessing feasibility, scalability (automation and bioinformatics) effectiveness and acceptability, alongside increasing logistical capacity and resources.

Through this study the quality, safety, secure storage and oversight of genomic sequencing data generated will be evaluated, as well as opportunities for future analysis of data for rapid diagnostic purposes to improve health care in later life.

Who is involved?

Led through SCHN by Professor Bruce Bennetts and administered by the University of Sydney; the TRAIL study also includes partners from NSW Health Pathology, CSIRO, PathWest, UNSW and other NSW Health partners. A wide range of experts will collaborate on this study from across our hospitals and external partners including, the NSW NBS programme, molecular genetics, bioinformatics, clinical geneticists, metabolic physicians, genetic counsellors, policy experts, health economists and midwives. Research will also involve input from other disciplines within the SCHN.

The TRAIL study will collaborate nationally through the Genomic Screening Consortium for Australian Newborns (GenSCAN).


  • Professor Bruce Bennetts, Research Lead
  • Sarah Shin, TRAIL Research Assistant
  • Akira Gokoolparsadh, TRAIL Research Genetic Counsellor
  • Anubhav Kaphle, TRAIL Bioinformatician

Why is it happening?

In 2022 the Australian Government committed to increase equity of access and expand the number of conditions screened through the five 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.

It is important to acknowledge these two significant milestones in the newborn bloodspot screening are separate pieces happening in parallel. The expansion of the current newborn bloodspot screening programs nationally is being facilitated through the Commonwealth Department of Health and Aged Care. Whilst the exploration of the potential use of genomics in newborn bloodspot screening is currently state based research studies, coordinated nationally through GenSCAN.

The TRAIL study will build on previous research into genomic approaches in newborn screening, such as Spinal Muscular Atrophy. The national approach taken through this study and other research studies is aimed at ensuring equity and access is considered across all states and territories. Equally, the approach to policy and engagement with the Commonwealth has already commenced.

Why is it important?

It is well known and documented that newborn bloodspot screening continues to be one of the most successful population health programmes. The programme provides benefit to a target population through the early diagnosis of a serious health condition enabling early management and better health outcomes.

The therapy ready component of this study aims to have an ongoing future impact on the health of children due to investigations into early onset childhood conditions that will have a beneficial outcome from early intervention and therapy. This research also aims to enhance the lives of people living with rare disease and or disability (identified through newborn bloodspot screening) by giving them the earliest opportunities and access to positive health interventions.

A guiding principal for the TRAIL study and the other studies of GenSCAN is to ensure public confidence remains in the current newborn bloodspot screening programme.

Internationally, a number of projects are investigating the use of genomics in newborn bloodspot screening. These studies and TRAIL are collaborating through the International Consortium of Neonatal screening ICoNs and the International Society of Neonatal Screening (ISNS).


Project Manager

Shelley Pirreca

Email: SCHN-

Lead investigators

  • Clinical Professor Bruce Bennetts (CIA)  
  • Dr Gladys Ho
  • Professor Michelle Farrar
  • Tiffany Wotton
  • Dr Eva Chan
  • Clinical Associate Professor Kristi Jones
  • Dr Kaustuv Bhattacharya
  • Professor Edwin Kirk
  • Kirsten Boggs
  • Dr Pak Leng (Anthony) Cheong
  • Associate Professor Adviye Ayper Tolun
  • Dr Mark Davis
  • Dr Denis Bauer
  • Dr Nasrin JAVID
  • CI Won Tae Kim
Last updated Wednesday 21st February 2024