The Australian Genomics Acute Care study aims to quickly provide families with a diagnosis for their sick infant, who is suspected to have a genetic disorder, the Sydney Morning Herald reports. It adds that the research team, in its first eight months, has been able to diagnose 57 percent of the infants enrolled.
Samantha Ayres from Murdoch Children's Research Institute and her colleagues discuss the role of genetic counselors in a study like this in the Journal of Genetic Counseling. They note that both the rapid pace and the NICU setting provide challenges for genetic counselors, including limited preparation time prior to counseling.
In the case of an infant the researchers call 'Stella', Ayres and her colleagues report that the pretest counseling session with Stella's parents lasted about two hours, as doctors updated the parents on their infant's condition and as the parent sought detailed information. After trio sequencing, the team identified compound heterozygous pathogenic variants that led to the diagnosis of a rare congenital myopathy. The researchers note that the post-test counseling session lasted an hour and that the infant's parents since have had telephone counseling as well.
Ayres tells the Sydney Morning Herald that that case "demonstrated to me how the testing could really benefit families," as Stella's parents were then able to avoid other testing and take her home from the hospital.