EXPERT REACTION: Ultra-rapid DNA sequencing helps critically ill Aussie kids
Experimental study: At least one thing in the experiment was changed to see if it had an impact on the subjects (often people or animals) – eg: changing the amount of time mice spend on an exercise wheel to find out what impact it has on weight loss.
People: This is a study based on research using people.
Ultra rapid DNA sequencing of 108 critically ill Aussie kids has meant that in just over 3 days, over half of the kids tested were able to receive a diagnosis, which then influenced their treatment in the majority of cases. Sequencing the whole of a person's DNA once took years, but this study showed that once a sample was taken for testing, rapid DNA sequencing could provide families with results in just over 3 days, with 55 of the 108 kids diagnosed with a specific condition. The sequencing and diagnosis also meant that doctors could begin targeted treatments, increase monitoring for known risks or in some cases shift toward palliative care.
Journal/conference: JAMA
Link to research (DOI): 10.1001/jama.2020.7671
Organisation/s: Murdoch Children's Research Institute (MCRI), The University of New South Wales, The University of Melbourne, The University of Sydney, Western Sydney University, Monash University, University of South Australia, University of Queensland, Macquarie University
Attachments:
Note: Not all attachments are visible to the general public
News for:
Australia
NSW
VIC
QLD
SA
Media contact details for this story are only visible to registered journalists.
Expert Reaction
These comments have been collated by the Science Media Centre to provide a variety of expert perspectives on this issue. Feel free to use these quotes in your stories. Views expressed are the personal opinions of the experts named. They do not represent the views of the SMC or any other organisation unless specifically stated.