Dr. Katherine Drabiak examines genetic testing and its impact on cancer treatment

| Academic & Student Affairs, COPH Home Page Feed, COPH Office of Research, Departments, Featured News, Global Health, HPM, Monday Letter, Offices, Our Research

Katherine Drabiak, attorney and USF College of Public Health assistant professor of bioethics and genomics who holds joint appointments in health policy and management and global health, recently published the article   in the Journal of Health & Biomedical Law.

The article focuses on laboratory developed tests (LDTs) and their use (and limitations) in determining cancer risk and treatment protocol.

One example of an LDT is the BRCA test, which looks for a mutation of the BRCA1 and BRCA2 genes. Altered BRCA genes are thought to be responsible for some familial cases of cancer, most notably breast and ovarian cancer.

If a woman tests positive for a BRCA mutation, her doctor may recommend a mastectomy with breast reconstruction surgery, removal of the ovaries with hormone replacement therapy and/or use of the drug tamoxifen, which blocks estrogen, a hormone that feeds many breast and ovarian cancer tumors.

Katherine Drabiak, author of an article on genetic testing and its impact on cancer treatment, specializes in health law. (Photo by Anna Mayor)

While noting that LDTs can lead to an over-diagnosis and over-treatment of cancers that otherwise might never substantially impact one’s health, Drabiak’s article also highlights the fact that certain cancer-preventive procedures—often sought because of genetic testing results—can have complex and concerning side effects of their own.

“For example, when you look at the research and the litigation, you find that some breast implants used in reconstructive surgery can lead to an aggressive form of cancer called anaplastic large cell lymphoma,” explained Drabiak. “Tamoxifen can cause such serious brain fog, headaches and depression that some women taking it become permanently disabled. And it has always struck me as ironic that some doctors recommend removing a woman’s ovaries to reduce her estrogen production and then put her on synthetic hormones, which carry risks like stroke, cancer and even death. Women are scared and anxious and want to reduce their cancer risk, so they are told of these preventive options. But they are not always told about their side effects. Women need all the information to make their decisions.”

The drug tamoxifen is sometimes recommended for women who test positive for a mutation of the BRCA gene. (Photo courtesy of istock)

Drabiak became interested in the topic of LDTs and their influence on cancer treatment after actress Angelina Jolie’s highly publicized positive BRCA test and her subsequent mastectomy and salpingo-oophorectomy (a procedure to remove the ovaries).

“I was curious about the use of LDTs driving these preventive procedures and the risks involved,” said Drabiak. “Many women and some doctors put a lot of reliance on these genetic tests, thinking of them as a crystal ball. But some tests are not even FDA approved; others can give false positive results.”

It’s also important to note that most cancers are not related to genetics.

“A lot of cancers are linked to environmental chemicals and lifestyle choices like diet and exercise–some, but not all, that can be controlled,” she said. “People are so focused on cancer and genetics, but that can get fatalistic. I want people to be empowered, to know that they can do something about their cancer risk.”

Story by Donna Campisano, USF College of Public Health