Rare Voices Australia Education: Genomics and Newborn Bloodspot Screening Research, eLearning course

1 January 1970

eLearning course, see https://education.rarevoices.org.au/courses/rva-education-genomics-and-newborn-bloodspot-screening-research/

Newborn bloodspot screening (NBS) is of critical importance to the rare disease community as it screens for rare pre-symptomatic conditions to enable early intervention. Australian states and territories have offered NBS since the 1960s, with more than 99% of babies screened in Australia each year,1 reflecting a high level of public trust in this important program. Genomic NBS has the potential to screen for many more rare conditions2 but genomic testing in the newborn stage is associated with ethical, legal and social complexities that need to be carefully considered and managed.3 The research programs presented in this course are designed to collect evidence on how new technologies can be used to expand NBS programs in rigorous and considered ways to safeguard public trust and ensure all Australian babies benefit from scientific innovations.

The National Strategic Action Plan for Rare Diseases highlights the importance of screening programs for the rare disease community, including ensuring screening programs can evolve with emerging science and technology.


  • Date: 1 January 1970
  • Time: