David A. Stroud of the University of Melbourne and his colleagues have developed a new neonatal screening method for identifying genetic disorders related to mitochondrial diseases. The screening utilizes mass spectrometry, which studies proteins in peripheral blood mononuclear cells. In a study published in Genome Medicine, the new method was initially tested on a cohort with a known diagnosis. The test, conducted on fibroblasts from 24 children, was able to correctly identify the disease in 83 percent of cases. The method was then applied to six individuals without a known diagnosis, and the test was able to detect the genetic disorder in all of the children.
The researchers concluded that while existing tests could accurately identify genetic diseases in 30-50 percent of cases, the new method would increase this range to 70 percent. Its advantage is also its minimally invasive nature (the analysis requires a milliliter of blood), while existing testing techniques often require a biopsy. The method also allows for a rapid diagnosis—within 54 hours.
