Cancer is among the leading causes of death in the global population, and is caused by abnormal cell growth within the body. Certain cancers have been linked to genetic alterations such as BRC A 1+2, KRAS, and HER-2/neu, which can be identified in patients through genetic testing.

However, genetic testing relies on an ever-growing body of research, and a new study published in the Journal of the American Medical Association has concluded that laboratories should periodically review patient records in order to accurately assess test results.

Acquired gene or chromosome alteration tests are used to class genetic variants of profiled genes as benign, likely benign, uncertain significance, likely pathogenic, or pathogenic. When researchers reviewed the genetic testing results from 1.45 million patients, they found that almost a quarter of “uncertain significance” variants needed to be reclassified according to recent research—some as benign, and some as pathogenic.

The reclassification of the tested genes could have a profound impact on patients’ lives, as genetic testing is an important element of preventative medicine. Courses of recommended action for patients with pathogenic variants vary, from yearly diagnostic screening tests to preventative surgeries, so the importance of accurately classifying the genetic variants cannot be understated.

The market for genetic testing medical devices is estimated to be worth roughly $1.5bn, and is experiencing strong growth. Genetic testing is becoming a key element of preventative medicine, especially for patients who are aware of their family medical history. The effectiveness of genetic testing in averting potential cancers will continue to be bolstered through research as this market continues to grow.

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