Now instead of 15 tests, only 1 will be needed.
Doctors from Radboud University and Maastricht University in the Netherlands have developed a test that allows for better study of genetic information and more accurate diagnoses, according to research results published in the American New England Journal of Medicine. The development, according to the scientists, significantly surpasses standard diagnostic methods.
The basis for the development was the method of long genome sequencing, a technology that allows for reading significantly longer fragments of DNA compared to standard methods. It helps analyze complex regions, identify large structural rearrangements, repetitive sequences, and more accurately determine the boundaries of mutations.
Standard tests calculate genome fragments containing biological information that are only up to 300 nucleotides long. The new test reads up to 20,000, expanding diagnostic capabilities.
"In 832 patients with a rare genetic disease, a definitive diagnosis was made for 160 patients (19.2%) using long-read genome sequencing and for 137 patients (16.5%) using standard medical testing," the study notes.
Despite a small increase in diagnostic efficiency in percentage terms, the development is significant as it pertains to atypical diseases. The new test reads not only the components of the genome but also modifications on the outside of the DNA that can "turn genes on and off" and are sometimes the cause of rare diseases, co-author of the study and genome bioinformatics specialist Christian Gillissen told Medical Xpress in an interview.
The scientists compared the current standard diagnostics, which often include several tests for diagnosis, with the new DNA test in 1,000 patients. A year after implementation in the clinical practice of a Dutch hospital, the method showed a broader range of diagnostics, notes translational genomics specialist Lisanka Vissers.
"We have shown that the new test allows for 3% more diagnoses. It can also replace 15 other tests. We recommend using this test worldwide as the primary one," the scientist emphasized.
According to Professor of Genomic Technologies Alexander Hoischen, who also participated in the study, the number of diagnosed cases will continue to grow in the future, as he and his team have established a link between genetic anomalies and various diseases.
"I think this will become the new standard in genomic diagnostics and the only test we will conduct in the future," Hoischen stated.
