Biomarkers in the blood can indicate certain conditions
Evgeniy Salov/Alamy
Amyotrophic lateral sclerosis (ALS) may one day be diagnosed blood test after researchers linked eight genetic markers to the disease.
People with ALS, the most common form of motor neuron disease, experience problems with walking, speaking, swallowing and breathing that worsen over time and are eventually fatal. There is no cure, but treatments such as physical therapy can help reduce the impact of these symptoms.
Doctors typically diagnose ALS using symptom assessments, tests that measure electrical activity in nerves, and brain scans. There is a lack of awareness about ALS, and doctors need to track how a person's symptoms develop over time before making a diagnosis, which delays treatment, says Sandra Banak at the Brain Chemistry Labs research organization in Wyoming.
To help diagnose the condition earlier, Banak and her colleagues analyzed blood samples from small groups of people with and without ALS. This led them to eight genetic markers that appeared to exist at different levels in the two groups.
To confirm this, the team now looked at blood samples from 119 people with ALS, taken from a biobank called the National ALS Biorepository, and 150 people without the disease, finding that the same eight markers still differed between the groups. The markers were associated with neuronal survival, brain inflammation, memory and training, Banak says.
The researchers then trained a machine learning model to distinguish between people with and without ALS based on marker levels in 214 participants. They then tested it on the remaining 55 participants, finding that it correctly identified 96 percent of ALS cases and 97 percent of people without the disease.
“It's a fantastic thing,” he says. Ahmad Al Khleifat at King's College London. “The test is good at distinguishing between people with and without ALS.”
The researchers estimate the test will cost less than $150 and hope to have it available within two years, Banak says. But first, it needs to be tested in a select group of people. If the team partners with the right diagnostic lab, the test could be available within a year, Banak says.
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