Misinterpreting cancer genetic test results or resulting in unnecessary surgery

Geneticists are trying to form a public database to compete with Riad Genomics and to learn more about the implications of BRCA mutations. When they did so, the researchers found that some unknown mutations actually did not harm the human body.

Katherine Nathanson, a cancer geneticist at the University of Pennsylvania in Philadelphia, said: “As more and more people undergo genetic testing and you find that more and more people have a specific mutation, it can change from an unspecified variant Into a benign variation. ”

This may be for a variety of reasons.

For example, since most cancer gene research tends to focus on people of European descent, there is still a fair chance that an African-American with a cancer may carry a mutation that has never been seen before. This single observation suggests that mutations increase the risk of developing cancer. But as time goes on, more data about African Americans can show that initial data points are just a fluke, and that mutations do not increase cancer risk.

The researchers pointed out that uncertainty surrounding the ambiguity around an ambiguous test result could lead to unnecessary surgery.

In 2014, researchers led by Ellen Matloff, founder of the genetic counseling program at Yale School of Medicine in New Haven, Connecticut, and genetic counseling information service company My Genetics, reported that four women found themselves Cases with BRCA1 or BRCA2 mutations following removal of their breasts or ovaries. However, these mutations were not associated with an increased risk of developing cancer. Matloff notes that these cases suggest that people should know who actually qualifies to collate and interpret their genetic test results.

“A lot of people are putting up a small sign saying they can do genetic counseling,” says Matloff, “and it’s time to invest in people who really qualify in this area.”

It is reported that, Jolie had said that he was informed by a medical examination of the risk of ovarian cancer, the doctor advised her to further ovarian examination. She then decided to undergo laparoscopic bilateral oviduct ovariectomy.