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October is Breast Cancer Awareness Month. This article is part of our month-long focus on breast cancer. To learn more or find ways to help, go to our Pink Edition Page.
DAYTON — Through genetic testing, it’s now possible for some people to find out if they have a greater risk of cancer.
But would you want to know?
While such knowledge can lead to better cancer prevention and treatment, it can also create an emotional burden that some aren’t ready to face.
Faith Callif-Daley, a genetic counselor at Dayton Children’s Medical Center, helps individuals make these types of difficult decisions. The hospital tests patients of all ages for gene mutations.
Among the prime candidates for genetic testing are those with strong family history or those who have already been diagnosed with cancer at a young age. Sometimes doctors recommend the tests and other times patients come in on their own.
“Some people come in and they’re very ready to test,” says Callif-Daley. For other patients, the decision to test can be very difficult.
“(They’re) just not ready to deal with knowing yet,” explains Callif-Daley, who says some individuals aren’t ready to follow through with options available to them if they do test positive for a gene mutation.
In the case of breast cancer, the two gene mutations that can be tested for are BRCA1 and BRCA2, breast cancer susceptibility genes. It’s important to know that these gene mutations can be inherited from both maternal and paternal sides of the family.
According to Callif-Daley, having a BRCA1 or BRCA2 mutation raises a woman’s risk for first breast cancer to 56-85 percent, 50 percent for a second occurrence of breast cancer, and 20-45 percent for ovarian cancer. Men who have a BRCA mutation also are at increased risk for breast and prostate cancer.
BRCA1 and BRCA2 mutations also increase a woman’s chance of ovarian cancer, which is harder to detect early than breast cancer. “The best way to prevent it is to ultimately remove the ovaries,” said Callif-Daley. Removing the ovaries also decreases the risk of breast cancer. Some women also opt to have both breasts removed.
Prophylactic surgery, having organs removed that are at an increased risk of cancer, may seem extreme to some. “Women with BRCA1 or BRCA2 gene mutations have a high risk for cancer but there is no way to predict who will get cancer or when it will occur, making decisions about preventive surgery more complex,” says Callif-Daley. “However, the mutations can raise a woman’s risk of ovarian cancer from 2 percent to as much as 45 percent, which makes some patients feel as though they are destined to get cancer.”
“Some people come in and they know (surgery is) what they want,” says Callif-Daley. Patients can make informed decisions both before and after genetic testing with help from their doctors and genetic counselors.
In some cases, only frequent and earlier screening of organs at a higher risk for cancer is recommended.
Some medications have also proved to be helpful. The New England Journal of Medicine recently released the results of a study done on PARP inhibitors and patients in late stages of cancer caused by BRCA1 and BRCA2 mutations. The PARP inhibitor drug kills would-be cancer cells, instead of letting the mutated genes try to repair them, according to the journal. The results were very promising, but the study of 60 patients is the only one of its kind done so far.
Genetic testing can also help patients who already have cancer. Knowing whether or not the cancer could have been caused by a gene mutation can help doctors develop better treatment plans, said Callif-Daley.
Today, health insurance usually covers the genetic testing when a valid need for it has been determined. In the past, though, many patients worried that their health insurance carriers would drop them if the testing found an increased risk for cancer.
“There aren’t too many people that should have that concern anymore,” said Callif-Daley. In May 2009, the Genetic Information Nondiscrimination Act of 2008, GINA, was put into effect. It prohibits discrimination based on genetic information for both insurance providers and employers. The sections regarding employers will take effect November 2009. GINA, however, does not pertain to other insurances such as life insurance.
For some patients, knowing they have an increased risk for cancer helps them make decisions to lessen the likelihood, and they can pass the information on to other family members who may be affected. Others are not ready to deal with the consequences of a positive test result, meaning they have a mutation. Callif-Daley said she has had some patients who make their appointments and later decide not to go through with it.
“I personally don’t know of anyone that’s gone through a testing and regretted it, that I know of,” said Callif-Daley, even if they get bad news. “I think most people do very well with it.”
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