While genetic testing has advanced, and has enabled clinicians and doctors to provide families with answers when medical problems arise in children, not every case is resolved with genetic sequencing assays. Scientists have now developed a blood test that can quickly diagnose rare genetic diseases in infants and children. This novel test, which was reported in Genome Medicine, has the potential to eliminate expensive or invasive diagnostic procedures, and provide patients and families with answers more quickly; this could not only reduce the stress they face, but can also make the proper treatments available more quickly.
About half of children who have a disease but do not get a diagnosis from genetic tests have to then undergo more testing. These tests might be part of a medical odyssey that patients and their families can go on for years as they try to find a diagnosis for an unusual health problem. Many rare diseases are only diagnosed with specialized testing or equipment.
But this novel test can identify abnormalities quickly. It analyzes problems in thousands of different genes at the same time, and has the potential to replace many different, specialized testing methods.
"By providing patients and their families with a rapid clinical diagnosis, the patient has a greater chance at survival as they can begin treatment far sooner, if available," said senior study author Professor David Thorburn of Murdoch Children's Research Institute.
"Even in cases where a child has died from an undiagnosed genetic disease, this new test can be carried out on tissue samples to determine the genetic mutation responsible for their death. Such diagnoses not only provide closure to families, but this information can also be used in IVF to help the parents to have future children who have not inherited the life-threatening disease."
The new blood test was validated against current testing methods, such as an enzyme test for mitochondrial disorders. This new test was shown to be better at confirming a case of mitochondrial disease than current methods; the new test was faster, more sensitive, and more accurate.
Now the investigators want to validate the test further, and have recruited several hundred patients with a variety of diseases to show that the blood test can diagnose other conditions. More research will be needed, but this test has the potential to transform the lives of countless individuals.
Sources: University of Melbourne, Genome Medicine