David A. Stroud of the University of Melbourne and colleagues have developed a new neonatal screening method that can detect genetic diseases related to a group of mitochondrial diseases. The screening uses a mass spectrometry method that studies proteins in peripheral blood mononuclear cells. In a study published in Genome Medicine, the new method was first 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 used on six people without a known diagnosis, and the test was able to detect the genetic defect in all of the children.
The researchers concluded that while existing tests could accurately detect a genetic disorder in 30-50 percent of cases, the new method would extend this range to 70 percent. It also has the advantage of being minimally invasive (a milliliter of blood is needed for the analysis), while existing analysis techniques often require a biopsy. The method also allows for a diagnosis to be made in a short time — within 54 hours.