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Genetic testing to screen for breast cancer becoming more common


Oct. 24, 2013
SPRINGFIELD – The role of genetics in breast cancer took a high profile turn earlier this year when actress Angelina Jolie, 38, announced in May that she had a preventive double mastectomy.

The reason? Jolie – whose aunt died of breast cancer and mother succumbed to ovarian cancer – carried the BRCA1 gene mutation. It is estimated that 1 in 500 people are carriers of a BRCA gene mutation, giving them up to an 80 percent chance of developing breast cancer, and up to a 40 percent chance of developing ovarian cancer.

“We did see a sharp rise in the number of women coming in for genetic testing after Angelina Jolie’s announcement. Many were concerned not only about their own health, but about the health of their children,” said Sara Goldstein, a genetic counselor at Baystate Medical Center.

“It’s a big decision for someone to get tested, whether for breast cancer or the risk of developing other cancers and diseases. Ultimately, you are going to receive information that may tell you that you are at high risk to develop a specific type of cancer, and that can be quite an emotional burden to carry,” she added about the anxiety and depression a positive test result may cause.

Dr. Mary-Alice Abbott, Baystate’s chief of Medical Genetics, noted the increase in women seeking genetic counseling has been fueled by two additional factors.

“More insurance companies are now realizing the importance of genetic testing and its cost effectiveness, resulting in their payment for testing. Also, this summer, the U.S. Supreme Court ruled that genes taken from the human body could not be patented, which dramatically lowered the cost of genetic testing, including the BRCA test, which until then had only been available through one lab at the cost of $4,000,” said Dr. Abbott, noting the cost has now dropped to about half that price with most insurance companies covering testing for at-risk patients.

But not everyone is a candidate for genetic testing – most often a blood test or swab of cheek cells.

“When we see people, we start by getting their medical history and family history. This information is important, because it will help us to determine if they are high-risk enough to be tested. We also discuss what they will do if their test comes back positive and how this will affect their children and other relatives,” said Goldstein.

“If someone tests positive, the first thing we do is to educate them about what it means. Depending upon whether they had a previous cancer and at what age, and what they had for treatment, we might suggest additional screening and surveillance. There are also some medications that have proven successful for those at high risk. And, for those who are asymptomatic and who haven’t developed cancer, we can make recommendations for screening that can increase their chance of early detection and treatment,” said Abbott.

While Angelina Jolie’s brave action to opt for a preventive double mastectomy dramatically reduced her risk of developing breast cancer, it’s not a decision that is right for everyone.

“Women will need to talk with their doctor about all options to reduce their risk of breast cancer before making this difficult decision,” said Abbott.

A woman with an average risk of breast cancer has about a 12 percent chance of developing breast cancer, while only 1 in 1,000 men will develop breast cancer, according to the American Society of Clinical Oncologists. If a woman’s first-degree relative – mother, sister, brother, children – develop breast cancer, the woman’s risk is double the average woman’s risk. If two first-degree relatives developed breast cancer, the woman’s risk is five times the average risk.

“It’s important to remember, however, that if your test results are negative, it doesn’t mean that you will never develop breast cancer in your lifetime. What it does tell you is that your average risk is the same as other women depending on your lifestyle and possible environmental factors attributable to cancer,” said Dr. Abbott.

In addition to mutations of the BRCA1 and BRCA2 genes, several other genes are linked to an increased risk of breast cancer. Among the hereditary cancer syndromes associated with breast cancer risk include Ataxia Telangiectasia (A-T), Li-Fraumeni syndrome (LFS), Cowden syndrome (CS), and Peutz-Jeghers syndrome (PJS).

“While a large majority of the hereditary breast cancer we see is the result of BRCA1 and BRCA2 gene mutations, this is still a very small subset of all who develop breast cancer.

There are certainly other genes that may increase a person’s risk of breast cancer and research scientists are hard at work trying to identify them and to make testing even more successful,” said Dr. Abbott.

As genetic testing gains greater attention, questions have arisen about violations of privacy and of the confidentiality of genetic test results, which could be used to the advantage of health insurers and employers. However, the federal Health Insurance Portability and Accountability Act, as well as various state laws protect privacy, while the federal Genetic Information and Nondiscrimination Act prohibits discrimination based on genetic information.

For more information on Baystate Medical Center, visit baystatehealth.org/bmc.



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