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How is genetics research progressing? It starts with geneticists identifying a variant of a gene associated with a disease, such as epilepsy. Initially, they do not know what the variant means, they classify it as a variant of unknown meaning. This could contribute to the disease, making it pathogenic, or not, making it benign. Only later searches can reveal the classification of a variant.
Most gene variants belong to the unknown category, simply because they have not been sufficiently studied. According to Park, only about 20% of genetic tests for epilepsy yield clinically significant results. This percentage will probably increase with the acceleration of the pace of genetic research. For example, ClinVar, a public database where researchers can report new variants, has seen its numbers skyrocket, from less than 50,000 variants in 2013 to more than 600,000 in 2018.
To understand the consequences of this increase for patients, the researchers examined 309 local cases of genetic tests of epilepsy that occurred between 2012 and 2015. They analyzed the genetic results again based on current research. and 12% had a change in interpretation that could lead to better treatment for epilepsy.
Park was somewhat surprised at the number of modified variants. "I did not expect at such a high level," Park said. Most variants have gone from unknown to benign significance. But this information can still be useful to clinicians who decide on treatment.
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