Know your breast cancer risk: South Florida doctors urge genetic screening

Lainie Jones of Fort Lauderdale was only 24 when she learned she had breast cancer. Today she is 40 and an advocate for genetic screening.

“Because I was genetically tested, it changed my protocols and saved my life,” Jones said.

A simple, relatively inexpensive blood or saliva test can now check dozens of genes associated with different kinds of cancers — including breast cancer. South Florida doctors are trying to make more woman aware of its value.

Where genetic screenings for breast cancer previously screened for BRCA1 and BRCA2 mutations, they now look at as many as 60 genes to that could lead to cancer. “The BRCA genes are just a tip of the iceberg,” said Emily Goldberg, a genetic counselor with JScreen, a national genetic screening and education program.  “There are  more that we continue to find that increase your breast cancer risk and risk for other cancers as well.”

For example, researchers identified as many as 30 genes linked to breast cancer in a study published in Nature Genetics  in August. They analyzed data from 244,041 European women to identify new gene variant and found six linked to breast cancer that were particularly significant. Those included five known genes that carry risk as well as one new gene: MAP3K1. When the researchers restricted their analysis to patients ages 50 years and younger, they identified 40 genes linked to breast cancer.

“Not every gene with a finding has the same risk associated with it,” said Dr. Louise Morrell, medical director of Lynn Cancer Institute, part of Baptist Health at Boca Raton Regional Hospital. “What it means to a patient is a personalized approach to their care.”

Most often, genetic testing is recommended based on someone’s family health history of breast and ovarian cancer, or to learn more once they have been diagnosed.

Dr. Elizabeth Dibble, a Brown University associate professor of diagnostic imaging, said anyone with a known family history of a gene mutation or a relative with breast cancer at a young age should be tested. But some mutations are found in people who aren’t aware they have a risk.

Jones, who now works for the American Cancer Society, said her breast cancer at 24 years old was invasive ductal carcinoma, and she was diagnosed at stage 2. “I had a double mastectomy, but the cancer has returned twice in my lymph nodes. When it recurred the third time, I went through aggressive chemotherapy with radiation.”

Years later, she says a genetic screening revealed she has a rare genetic disorder called Li-Fraumeni syndrome. The disorder predisposes her to cancer. “Once I found that out, my protocols shifted. I get scans every three months and they changed the way they scan me,” she said. “My doctors watch me more closely and they are more aggressive if something pops up.”

Goldberg said when it comes to breast cancer, a positive result for a gene mutation can direct a person toward available prevention, monitoring, and treatment options.

“A genetic screening doesn’t tell you if you have cancer, but it will tell you if there is something inherited that makes your risk higher than other people,” she said.

Just a decade ago, genetic screening for inherited cancer risk could cost as much as $5,000. Testing now is not only significantly less — as little as $200 — it also is more comprehensive.  Local hospital systems such as Baptist Health South Florida, and Memorial Healthcare, are offering the tests routinely to breast cancer patients. JScreen, a national nonprofit, sells an online test kit for $199 with insurance or $349 self-pay. Holy Cross Hospital is running a pilot program with grant money that will provide up to 100 free genetic tests  called Galleri MCED, which screens for a signal shared by multiple cancers that would otherwise go unnoticed.

Ideally, a genetic counselor or specialist should go over the results with a person who has been tested.

“We have a long way to go in terms of genetic education,” said Morrell at Lynn Cancer Institute.  “There is a lot that goes into learning about hereditary cancers and feeling comfortable about interpreting those results.”

Morrell said genetic testing continues to evolve. “The tests we have today don’t answer everything, and actions you take may feel overwhelming. That’s why someone who has training in genetics is a critical part of test results.”

What is discovered through genetic testing?

A positive test for a specific gene mutation means you are at higher risk of developing a hereditary condition, but it is not a guarantee that you will get cancer.

Knowing your potential cancer risks has many benefits: it could lead to earlier preventive screenings or additional screenings, help doctors select targeted cancer drugs, or provide the catalyst to have preventive surgeries.

For instance, if a patient is considering a lumpectomy to remove a cancerous tumor, and genetic testing shows they are at risk for another breast cancer, instead they might be recommended to get bilateral mastectomies, which is removal of both breasts.

“A woman with a gene mutation may have recommendations for earlier mammograms or screenings in addition to a mammogram each year, such as adding a breast MRI,” Goldberg said. “Not everyone decides to do genetic testing, but the way I look at it is — knowledge is power. Your results can arm you with information that can be life-saving.”

Repercussions prohibited

A federal law called GINA — Genetic Information Non-discrimination Act — passed in 2008 protects individuals from a health insurance company or an employer from using a genetic test against a patient.

If someone tests positive, they can’t be fired from a job, they can’t lose their health insurance, they cannot be charged more for health insurance if they are switching plans. However,  under GINA,  if someone plans to apply for life insurance, long-term care insurance, they can be refused. Dibble, speaking at a WebMed webinar, suggested buying those plans before getting screened.

Going forward, South Florida experts see a future where genetic testing is widespread.

“I think we are getting closer and closer to doing population testing,” Morrell said. “In the future, the children now will have it as part of routine care. The goal mostly is to find cancers at a curable stage and prevent any consequences.”

Sun Sentinel health reporter Cindy Goodman can be reached at cgoodman@sunsentinel.com.