Researchers from Radboud University Medical Centre and Maastricht University Hospital in the Netherlands have succeeded in developing a new DNA test that represents a major breakthrough in the diagnosis of rare hereditary diseases, offering a more comprehensive and precise reading of DNA compared with conventional tests.
The significance of the test lies in its ability to analyse long genetic sequences, unlike older methods that rely on reading DNA in small fragments that are difficult to reassemble — a process likened to solving a complex "genetic puzzle".
The new test, published in the New England Journal of Medicine, also consolidates around 15 different examinations into a single comprehensive analysis, capable of detecting complex genetic changes as well as modifications that control whether genes are switched on or off.
The researchers are calling for the test to be adopted globally as a first-line option, given its potential to reduce the suffering of patients who currently wait years to receive an accurate diagnosis.