Understanding cancer risk: Why your genetic test results may need another look

genetic testing
Image credit: CNBC

The first wave of routine genetics testing has already helped millions of people learn about their hereditary risk for certain diseases like cancer. But a new study published [September 25] in JAMA suggests that as our knowledge of genetics expands, these initial results sometimes need to be revised.

Researchers at the University of Texas Southwestern Medical Center decided to look at the results of over 1.5 million genetic tests [for cancer].

From 2006 to 2018, they found, there were nearly 60,000 amended reports that needed to be issued because an unique genetic variant identified in the initial result had been reclassified as either likely harmless or potentially risky after the test was taken. Overall, around 6.4 percent of the 45,000 unique variants found in these tests (taken from 2006 to 2016) had been reclassified.

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“If a variant is reclassified to being pathogenic, then it matters to the patient,” said senior author Theo Ross.

And even in the case of newly identified benign mutations, the amended results can provide a peace of mind. Overall, over 90 percent of unknown mutations in the study were reclassified as benign, while just under 8 percent were reclassified as risky or likely risky. But despite that mostly good news, the team’s findings also highlight just how quickly new research can change our understanding of genetic risk.

Read full, original post: Your Genetic Testing Results Can Change—Here’s Why

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