Biomarkers in the blood can indicate certain conditions.
Evgeny Salov/Alamy
Researchers have linked eight genetic markers to amyotrophic lateral sclerosis (ALS), which could one day be diagnosed with a blood test.
People with ALS (the most common motor neuron disease) have problems walking, speaking, swallowing, and breathing, which gets worse over time and eventually leads to death. There is no cure, but treatments such as physical therapy can reduce the impact of these symptoms.
Doctors typically diagnose ALS using symptom assessments, tests that measure electrical activity in the nerves, and brain scans. Awareness of ALS is low, and doctors say they have to track how someone’s symptoms develop over time before making a diagnosis, which delays treatment. Sandra Barnack At Brain Chemistry Labs, a research institute in Wyoming.
Banack and her colleagues analyzed blood samples from small groups of people with and without ALS to help diagnose the disease more quickly. They found eight genetic markers that appeared to be present at different levels in the two groups.
To find out, the team looked at blood samples from 119 ALS patients and 150 people without ALS from a biobank called the National ALS Biorepository, and found that the same eight markers were still different between the groups. These markers, Banack says, are associated with nerve cell survival, brain inflammation, memory, and learning.
Next, the researchers trained a machine learning model to distinguish between those with and without ALS based on marker levels in the 214 participants. They then tested it on the remaining 55 participants, and it accurately identified 96% of those with ALS and 97% of those without ALS.
“This is absolutely fantastic stuff,” he says. Ahmad Al Kliphat From King’s College London. “This test is effective in distinguishing between people with and without ALS.”
The researchers estimate the test will cost less than $150 and hope to have it on the market within two years, Banack says. But it must first be validated in a separate group of people. If the team partners with the right diagnostic lab, Banack says the test could be on the market within a year.
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