Breast, Ovarian Cancer Survivors Promote BRCA Testing Awareness

September 18, 2008 07:59 AM
by Emily Coakley
Efforts are underway to both raise awareness of a cancer-linked genetic mutation and reduce the time and costs of testing for it.

‘Why didn’t my doctors tell me?’

Some women with a genetic predisposition to breast and ovarian cancer feel doctors need to do more to warn women of the dangers and encourage genetic testing, the Baltimore Sun reports.

Studies have linked two genetic mutations, known as BRCA1 and BRCA2 to an increased risk in certain cancers. From the Sun: “If a woman has the BRCA1 or BRCA2 mutation, her lifetime risk of getting breast cancer jumps to between 36 percent and 85 percent, compared with a 13.2 percent lifetime risk for other women, according to the National Cancer Institute.”

Sue Friedman, a Florida woman who was diagnosed with breast cancer at 33, learned about BRCA1 and BRCA2 not from her doctors, but a magazine article. She now runs an online community for people who have the BRCA mutations.

Heather Fineman of Highland Park, Ill., had her ovaries removed after discovering she had the mutation. Her family had a long history of breast and ovarian cancer. She later had both breasts removed and reconstructed.

“It was time for me to do something proactive and not follow the same fate as the women in my family. And for that, I thank my mom,” Fineman said, according to the Sun.

In the United Kingdom, the BRCA test could be pared down to cost just £10, according to the Times of London.

“Current tests for the specific gene mutations that can increase the risk of breast cancer require sequencing of a person’s entire genetic make-up, which can cost thousands of pounds and take up to 18 weeks to complete,” the Times reports. “But a method is being tested that could allow scientists to focus on individual genes, cutting costs and the time spent on the process.”

The new testing method could cut the waiting time to one week.

Opinion & Analysis: The importance of testing

Beth Kohl at the Huffington Post watched two aunts battle breast cancer. Her mother didn’t want to get the BRCA test, but Kohl did, since her family had the risk factors and she has daughters. Kohl’s geneticist warned her about billing her insurance company for the test and tipping them off to these potential problems. Her doctor was concerned about genetic discrimination.

That may not be a problem now, because after she got blood drawn for the test, Congress passed a Genetic Information Nondiscrimination Act which “specifically prohibits health insurance companies from denying benefits or employers from making hiring or firing decisions based upon a person's genetic information,” Kohl wrote. 

“I have my own concerns about insurers or employers pressuring people into undergoing tests that they are either uncomfortable with, or don't really care about one way or the other. It seems that genetic decoding, like any other medical test, is a highly personal choice, but one bearing extraordinary implications,” wrote Kohl, whose own tests came back negative.

A blogger known as Christina who writes at CoffeeCoffeeCoffee, said her mother has the BRCA1 mutation. The question for her was whether she should get tested, too.

“Well, the mom in me says, yes you must for your children. It is a hereditary trait. My daughter deserves to know. If I am a carrier of this mutated gene, then she needs to start doing yearly mammograms NOW. She is only 27. She has 2 daughters,” Christina wrote. “My sons deserve to know. If I am a carrier of this mutated gene, then they also need to be more diligent in looking for signs. Men do get breast cancer. Also the likelihood of prostrate cancer is more prevalent in BRCA1 carriers.”

Reference: Breast cancer Web guide


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