Rapid genomic testing in critically ill babies and children

This is the first blog article in our series Research Bites, which reports on the research that Australian Genomics has been doing. In this series we are summarising peer-reviewed journal articles so we can share our findings with the community. 

Rapid genomic testing is transforming medical care – particularly the diagnosis of people with rare conditions. For some critically ill children, rapid genomic testing can even be lifesaving (1).

What is rapid genomic testing?

In recent years, the time it takes to return genomic test results has sped up, due in large part to advances in technology. Average turnaround times for results were around six months. Now, results are often returned in two to three weeks – ‘rapid genomic testing’ – or in some instances, in two to three days with ‘ultra-rapid genomic testing’.

Testing someone’s genome is a complex process. This is mainly due to the laboratory processes used to read out the entire DNA code, and also to the complexities around identifying which DNA change (variant) among the millions that exist might be causing health problems.

So what does this mean for the child and family?

For parents with a baby or child in intensive care getting results quickly can be life changing.  A rapid genomic test result may allow doctors to:

  • Stop unnecessary treatments and/or tests that are potentially risky or painful.
  • Give parents an ‘answer’ for their child’s illness which otherwise may not have been found, and information about what to expect in the future.
  • For a small number of children, identify a targeted treatment that improves long term outlook
  • Provide parents with accurate information about the chance of the condition occurring in future pregnancies.

Even if no genetic cause is found, the results can still help the ill child by ruling out other causes. This means they will not have unnecessary treatments and/or tests.

From a healthcare system point of view, the money saved from unnecessary treatments and tests can be used elsewhere.

Challenges of rapid genomic testing

Parents typically feel overwhelmed and distressed when their children are critically unwell, so it can be a difficult time to process complex information about genomic testing. It is therefore very important that parents are supported by skilled health professionals such as genetic counsellors through the testing process (2). Studies show that most of the parents who said ‘yes’ to rapid genomic testing do not regret their decision (3,4).

Another key concern is whether everyone can access this testing in future. Currently, rapid genomic testing is not funded by the Australian healthcare system. Government-funded access for this type of testing can make sure that any family, no matter what their financial situation or where they live, has all testing options available to their critically ill baby or child.  

Additional resources:


  1. Stark, Z., Ellard, S. Rapid genomic testing for critically ill children: time to become standard of care?. Eur J Hum Genet 30, 142–149 (2022). https://doi.org/10.1038/s41431-021-00990-y
  2. Ayres, S., Gallacher, L., Stark, Z., & Brett, G. R.Genetic counseling in pediatric acute care: reflections on ultra‐rapid genomic diagnoses in neonates. Journal of Genetic Counseling28(2), 273-282 (2019). https://doi.org/10.1002/jgc4.1086
  3. Brett, G.R., Martyn, M., Lynch, F., de Silva, M.G., Ayres, S., Gallacher, L., et al. Parental experiences of ultrarapid genomic testing for their critically unwell infants and children. Genet Med 22, 1976–1985 (2020). https://doi.org/10.1038/s41436-020-0912-4
  4. Cakici, J.A., Dimmock, D.P., Caylor, S.A., Gaughran, M., Clarke, C., Triplett, C., et al. A prospective study of parental perceptions of rapid whole-genome and -exome sequencing among seriously Ill infants. Am J Hum Genet 107 953–962 (2020). https://doi.org/10.1016/j.ajhg.2020.10.004
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