A team of researchers at the University of Melbourne has developed a new blood test that can quickly detect rare genetic conditions in newborns. The test only needs one milliliter of blood and gives results within a few days. It replaces invasive procedures like muscle biopsies and helps doctors identify the exact genetic cause of disease by studying proteins in the blood.
This test is especially useful for diagnosing mitochondrial diseases. These are rare but serious conditions that affect how the body produces energy. Standard methods for finding these diseases can be slow and painful. With the new test, doctors can now diagnose up to 70% of cases, a much higher success rate than before.
The faster diagnosis helps families begin the right treatment sooner. This can lead to better health outcomes for the baby. It also gives parents clearer information to make decisions about future pregnancies. Early answers reduce stress and give hope in difficult situations.
The test works by comparing proteins in a baby’s blood to healthy protein profiles. If the proteins look abnormal, doctors can trace this back to the genes. This makes it easier to find out which gene changes are actually causing illness. The process is fast, safe, and does not harm the child.
Many experts believe this is a major step forward in pediatric medicine. Hospitals in other countries are now showing interest in using the same method. If it becomes a common tool, it could improve care for thousands of children around the world.
In Australia, some hospitals have already begun using the test in clinical trials. The researchers are now working with public health systems to make the test available to more families. They also hope that one day this kind of test will be part of routine newborn screening.
According to the Australian Genomics Health Alliance, one in 2,500 babies is born with a mitochondrial disorder. Most of these babies go through months or even years before getting a clear diagnosis. This new test could help change that.
The researchers behind the test are calling for wider adoption of the method. They believe the test can save time, reduce costs, and offer better care. The team worked with genetic experts and hospital staff to make sure the test is both accurate and easy to use.
This discovery could also support the development of new treatments. When doctors know the exact cause of a disease, they can choose the best care plan. It also helps scientists design targeted drugs and clinical trials.