New neonatal genetic screening for early diagnosis and treatment

Research led by Murdoch Children’s Institute (MCRI) Reported that their new neonatal genetic screening may be feasible and reliable for testing three rare hereditary disorders simultaneously.

Professor-led research David Godler From MCRI, we have developed a method for simultaneous screening of Prader-Willi, Angelman, and Dup15 from samples taken in the commonly used “heel prick” test.

Published in the Journal of the American Medical Association (JAMA) Network Open, the study provides a way for the team’s new test to add three chromosome 15 imprinting disorders to the neonatal blood spot screening program (heal prick test). Reported that it may open. first time.

The testing mechanism is based on a screening method called methylation-specific quantitative fusion analysis (MS-QMA), many of which are related to its use as a diagnostic tool for Fragile X.

Imprinting failure Certain regions of the gene are silenced and can be caused by epigenetic mutations that are ineffective by DNA methylation, a chemical marker added to the affected regions of the gene.

All three disorders differ in the amount of methylation in the same affected section of chromosome 15. The one-step MS-QMA test screens three syndromes simultaneously by examining the number of chemical markers added to the affected gene. Children without these disabilities do not have such high or low levels.

Once in action, this test may enable early diagnosis and treatment of disorders that are not normally diagnosed during the first year of the baby.

Prader Willi, Angelman, and Dup15q can cause varying degrees of intellectual disability, autism, behavioral problems, seizures, and / or severe obesity.

The three disorders currently affect about 135 newborns annually in Australia, but are not currently part of the newborn screening program and are often not diagnosed in the first year of babies.

Godler said the main reason these disorders were not included in the current newborn screening program is the lack of testing at low testing costs that may function on a population scale.

“Currently, tests are only performed on people suspected of having these disorders, and only if the feature is recognized by the child’s doctor and then referred for proper testing.” He said.

“This is not the case for newborn screening, where all newborns are tested before symptoms become apparent.”

However, MCRI’s research confirms that this method can be offered on a large scale and at low cost through a standardized neonatal “sole blood sampling” test.

Newborn screening and subsequent early intervention may benefit infants affected by these conditions. For example, for people affected by Prader-Willis disease, an infancy diagnosis can start early growth hormone treatment to improve long-term growth. Early intervention with Angelman and Dup15q may also reduce the medical costs, stress and anxiety experienced by the family.

The Victoria State Government We donated $ 100,000 to MCRI as part of the 2018 Victorian Medical Research Acceleration Fund to help develop new screening methods for rare diseases.

“We are living a world-class, ever-changing life with discoveries like this screening test that help children reach their full potential,” said Jaala Pulford, Minister of Medical Research. ..

Researchers at Royal Children’s Hospital, the University of Melbourne, and international research institutes have also contributed to this research.

JAMA network open Is an international, peer-reviewed, comprehensive open access medical journal that publishes clinical care, healthcare innovation, health policies, and research on global health across all health disciplines and countries.

Marina Chan


Marina Chan is a Melbourne-based Australian reporter with a focus on Australian news. Contact her at [email protected]