Ultra-rapid genomic testing is fast becoming a valuable diagnostic tool for some critically unwell children. But what is the experience of their parents in what is often a highly distressing situation?
New research explores the parental experience during the testing process, to inform the design and delivery of the ultra-rapid testing program now rolling out nationally.
The study, Parental experiences of ultra-rapid genomic testing for their critically unwell infants and children, looks at the value parents place on ultra-rapid testing, and how the counselling process can be tailored to meet the needs of parents.
Parents completed a survey 12 weeks after the ultra-rapid genomic test results were returned. Most of the 55 who responded said they received enough information before and after the test.
This study provides important information from the parents’ perspective at a time when the take-up of rapid genomic testing in neonatal and paediatric intensive care units is expanding,” said study lead Associate Professor Zornitza Stark.
“This means we can ensure the processes and resources we develop are family centred.”
Genetic counsellors play a key role throughout the testing process, including supporting families in their decision making and providing information.
“We really appreciate families taking the time to share their experiences,” said lead author and genetic counsellor, Gemma Brett.
“This will help us better meet the needs of parents as we expand this program nationally and this type of testing becomes more routinely available.”
Access the paper here.