According to findings of a study, a newly developed test to scan simultaneously in newborns for three rare genetic disorders is feasible, scalable, and reliable.
The research undertaken by the Murdoch Children’s Research Institute reports that screening for Angelman, Prader Willi, and Dup 15q syndromes using the new testing method could open new avenues for earlier diagnosis and treatment. This paves the way for the three chromosome 15 imprinting conditions to be added to newborn heel prick test for the first time.
The study appeared in Journal of the American Association Network Open was the first to validate the use of a low-cost, specialized screening method, developed by MCRI researchers for these conditions at a large scale.
The one-step test can be used to screen for three condition simultaneously. This involves looking at the number of chemical modifications called methylation added to affected genes, which are not seen in such abnormal high or low levels in children without these disorders.
For the initiative, The State Government provided a grant of US$ 100, 000 to MCRI as part of the 2018 Victorian Medical Research Acceleration Fund for assistance with the development of new screening method for the rare genetic disorders.
In order to establish the efficacy of the test, the study first checked for precision, with the test correctly distinguishing most of the 167 samples of people who were diagnosed with one of the disorders. Later, the test was performed on 16,579 newborns in Victoria with the test identifying one newborn with Dup 15q, two with Angelman, and two with Prader Willi.
The three rare genetic disorders are characterized by varying degrees of intellectual disability, seizures, autism, behavioral problems, and/or extreme obesity. Each year in Australia, nearly 135 babies are born with one of the disorders, but the disorders are not covered in newborn screening programs, and many remain undiagnosed in the first year of birth.