Scientists in Britain have announced that they are developing a genetic test that can detect several common neurological diseases, thus ending today’s “diagnostic odyssey” of multiple different genetic tests, which do not always give an accurate diagnosis and perpetuate the uncertainty of patients.
It is known that definitively diagnosing some not-so-rare diseases of genetic etiology (of which about one in 3,000 people suffer), such as Huntington’s disease, some dementias, fragile X chromosome syndrome, or amyotrophic lateral sclerosis, is difficult because there is a genetic background in them, it is unknown in advance which test one should do, consequently delaying for months or even years the diagnosis of the disease, especially in children. The new complete genome sequencing test will be able to quickly and accurately detect the most common inherited genetic disorders as part of a clinical practice routine.
The researchers, led by Professor Sir Mark Caulfield of Queen Mary University in London and published in the journal The Lancet Neurology, according to the British Guardian, initially evaluated the test in 404 patients who had previously diagnosed with neurological diseases through other conventional tests, concluding that the accuracy and sensitivity of the new test is proportional. The test uses an algorithm that “reads” the DNA of the people sampled, comparing it to that of healthy people and detecting invisible differences that may be betraying a genetic defect. Thus it is possible to test multiple genetic diseases at the same time, with the same test.
Next, the test was used on 11,631 people who had not previously been diagnosed with a neurological disorder but who had suspicious clinical symptoms. The test detected 68 people with the disease, six of whom were children (some without a relevant family medical history and therefore would probably remain undiagnosed for a long time). Among them were a ten-year-old girl with mental retardation, an 18-year-old with premature dementia and a woman diagnosed with Friedrich’s disorder.
“With a simple test we can diagnose the most common neurological diseases,” said Caulfield. “The way is open for a test that will put an end to the diagnostic Odyssey for many patients and could even be applied directly to the National Health System,” he added.
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