Genetic Testing, Angelina Jolie, and the Nature of Beauty
NORTHFIELD, ILL. — On the op-ed page of the New York Times, actress and filmmaker Angelina Jolie recently announced to the world that her ovaries had been removed. The surgical procedure, an oophorectomy, came two years after a double mastectomy.
Gail H. Vance, MD, FCAP, a fellow of the College of American Pathologists, says Jolie’s story was profound. “Women have really taken it to heart.”
Jolie wasn’t diagnosed with breast or ovarian cancer. The surgeries were personal decisions based on the discovery that she is a carrier of a mutated version of the BRCA1 gene.
“Think of it from a woman’s perspective. Here’s a woman who is phenomenal, gorgeous, married to a gorgeous man and in the opinion of many women, she has hit the jackpot several times over,” Dr. Vance says. “And all of a sudden, we realize that she’s plagued with a genetic malady that causes her to proceed with prophylactic mastectomy and subsequently the oophorectomy.”
Dr. Vance, who holds several positions at the Indiana University School of Medicine in Indianapolis, believes that Jolie has shown women they can still be beautiful after these surgeries.
“She had this remarkable decision to make and went through surgery. She didn’t lose her stature or her fame. Life went on,” says Dr. Vance. “She did it and came out in fine shape.”
Genetic testing isn’t for everyone. Breast cancer is a common disorder, says Dr. Vance, affecting one of every eight women, on average. But only 5 to 10 percent of all breast cancer cases are the result of genetic—or hereditary—factors. A decision to undergo genetic testing may largely depend on a patient’s family history. The fact that Jolie’s mother died from ovarian cancer was a good reason for Jolie to be tested.
Detailed familial knowledge is crucial. A patient is often asked to construct a “pedigree,” with the histories of least three generations on both sides. The more documentation, the better, she advises.
Dr. Vance notes that samples collected in genetic testing are interpreted by a pathologist whose “entire career is based on accuracy and quality.”
“Unlike the blood test you might have at your annual physical exam, there’s considerable professional information and guidance that needs to accompany this process,” says Dr. Vance. “The patient must understand the implications of that test result, whether it’s negative, positive or a ‘variant of unknown significance,’” says Dr. Vance.
Genetic testing is not inexpensive. Not all health insurance carriers offer the same coverage, and policies seem to change often, Dr. Vance says. The family history may play into the insurance company’s decision to cover the cost of the test.
Dr. Vance is the Sutphin professor of Cancer Genetics and interim chairperson of the Department of Medical and Molecular Genetics at the Indiana University School of Medicine. As well, she is director of the Division of Diagnostic Genomics and the Indiana Familial Cancer Program, which provides genetic counseling, risk assessment, and genetic testing to individuals with an elevated risk for developing cancer.
About the College of American Pathologists
As the leading organization with more than 18,000 board-certified pathologists, the College of American Pathologists (CAP) serves patients, pathologists, and the public by fostering and advocating excellence in the practice of pathology and laboratory medicine worldwide. The CAP’s Laboratory Improvement Programs, initiated 65 years ago, currently has customers in more than 100 countries, accrediting 7,600 laboratories and providing proficiency testing to 20,000 laboratories worldwide. Find more information about the CAP at cap.org. Follow CAP on Twitter: @pathologists.