Bruce Bennetts^1
1The Children's Hospital at Westmead

Newborn Bloodspot Screening (NBS) is the only viable mechanism to ensure universal identification of newborns who need early treatment for rare health conditions. The TRAIL study is one of several Medical Research Futures Funds studies established to explore genomic newborn screening. 

Through six cohorts the TRAIL study will explore the themes of sensitivity and specificity; data security, scale; speed; and acceptability: workforce, population and public policy. What level of information families require to make informed decisions on genomic NBS is also being explored. We will undertake a needs assessment of nurses and midwives to understand their comfort level with consenting models, as well as their understand of genomic NBS

The main cohort are de-identified NBS cards, mixed with the NBS cards from consented patients with a known genetic diagnosis to assess the sensitivity of the TRAIL bioinformatics pipeline.  This also opens the potential for future analysis of WGS data, enabling rapid and efficient genetic diagnosis beyond the newborn period - potentially for life. 

In the last phase of the TRAIL study, we will undertake prospective recruitment of pregnant women, to test learnings from earlier cohorts to assess gNBS in a real-time piloted approach.