AnneMarie Ciccarella, a 57-year-old brunette who speaks quickly with a hint of New York accent, thought she knew a lot of breast cancer. Her mother was diagnosed with the disease in 1987, and several other women have also developed the disease.
When doctors found a suspicious breast lump that turned out to be cancerous, it immediately sought mutation testing on the two BRCA genes, which represent about 20 percent of families with a strong history of breast cancer.
Ciccarella assumes that the results would be positive. They were not. Instead, we only identify a variant called unknown or uncertain meaning (SUV) in BRCA1 and BRCA2. Unlike pathogenic mutations that are known to cause disease or benign diseases are not, these genetic variations are simply not sufficiently understood whether they are involved or not.
“I thought I might have a mutated gene or not, and with all the cancer in my family, I thought I was going to bring a change. I did not know there was a big third category,” he said. “I have not had any information that it was a huge loss of blood by a big question mark.”
Thousands of people tested their BRCA genes for increased genetic susceptibility to the breast, ovary, prostate and others. About 5 percent said they were an SUV. This number is even higher for other genes: in one study, nearly 20 percent of genetic testing gave an SUV result.
Genetic variants that cause disease are rare, but that does not mean that all rare variants cause disease. Should we change the way we manage uncertainty in genetic testing?
“It’s a lot of uncertainty,” said Robert Klitzman, a bioethicist at Columbia University in New York. People want genetic testing like pregnancy tests, it says: “If you are pregnant or your place is not, they look more like a time report” and most people are not ready to deal with the odds and The uncertainties that result.
When scientists asked a group of women that a year after receiving the results of the BRCA test, women whose results were uncertain or non-informative felt much more stress and anxiety than those whose results were mild or pathogenic.
A follow-up study showed that the greater the risk a person thought their outcome indicated, and she was more tolerant, she was more likely to experience a serious distress in the long run.
Even before her sequencing results appear, Ciccarella decided to have a bilateral mastectomy based on her family history. For her, if she ever developed breast cancer has been answered, and in the worst possible way.
But she still wanted the information for her son and daughter so they could see if they had inherited a genetic risk of cancer. As a number of families, they learn that genetic sequencing will not provide answers at all.
We are all mutants. The three billion DNA fragments we do have always been considered as constant, granite monument chiseled as a classic, with only small changes made here and there. Scientists used to believe that DNA mutations were largely harmful.