In 2013, the world was taken by surprise when Angelina Jolie wrote a New York Times piece where she discussed her substantial family history of cancer, her decision to pursue genetic testing for the BRCA1 and BRCA2 genes, her positive genetic test results, and her choice to have a preventive mastectomy. While testing for these genes has been available since the 1990’s, Jolie’s celebrity made “BRCA” almost a household word. Since that time, the “Jolie effect” has been mentioned in the press, referring to the significant increase in women who decided to get testing for hereditary breast and ovarian cancer after this famous actor publicly shared her story.
In the genetic counseling community, we recognize Jolie’s announcement as not only brave, but impactful. A lack of information and education about hereditary cancer risk can lead to women and men being diagnosed with and dying from cancers that may have been preventable. Recently, the “Jolie effect” has appeared in the news again, due to a study that reported that millions in healthcare dollars were spent needlessly due to women getting testing that they didn’t need.
There have been several fantastic and detailed reviews of this study, notably by the advocacy group FORCE and by STAT News. We would like to answer some specific questions that you may have about this information and hereditary cancer testing.
1. This study looked at the number of women who had mastectomy after 60 days of having genetic testing. Is that a good way to know if the right women were tested for BRCA?
This study used mastectomy as a substitute for counting the number of people who had positive, or abnormal, BRCA results because they did not have access to that data. While mastectomy is one of options offered to women who have positive BRCA results, there are many reasons why women might not have a mastectomy immediately after learning about a positive test result. In fact, some of these women may never have this surgery. Many women will choose to have careful breast cancer screening starting at an earlier age, including mammography and breast MRI. Others will take medications that can lower their risk for breast cancer in lieu of surgical intervention. Others may choose to have surgery eventually but not immediately after they learn about their BRCA positive status. And even those who want to have surgery immediately may not be able to move quickly due to the additional tests and consultations that are required, as well as the insurance pre-authorization process. There are many reasons why the women who had testing might not have had a mastectomy in such a short time frame. Thus, the study’s assumption that these women were not appropriate for testing is flawed because we do not know how many actually tested positive.
2. My doctor has recommended that I get genetic testing because of my family history of cancer. Should I rethink that based on this news?
If your doctor or genetic counselor has asked you to consider testing for hereditary cancer risk, there is likely something in your personal or family history that is making them suspicious. While genetic testing is a personal choice and should be made in partnership with an expert (like a genetic counselor), this study does not in any way change the standard guidelines that recommend genetic testing in appropriate individuals.
3. How will a genetic counselor help me?
The goal of genetic counseling is to ensure that you have a complete and thorough assessment of your cancer risk, that you and your family fully understand all of your options and, if you pursue genetic testing, that you understand how the results will affect you. Even if you have already had testing, a genetic counselor can be helpful to confirm your understanding and apply the results to your medical care, as well as the medical care of your relatives.
Hereditary cancer advocate Georgia Hurst wrote a blog post called “Understanding Hereditary Cancer Syndromes and the Role of Certified Genetic Counselors” that can give you first-hand insight into her personal experience with a genetic counselor.
4. How do you decide who should get genetic testing for cancer?
There are guidelines by professional groups that can help your healthcare team determine if genetic testing for hereditary cancer risk might be appropriate. Currently, these guidelines are primarily focused on your personal and family history of cancer, including the age when cancer was diagnosed, type of cancers and how the people in the family who had cancer are related to each other. These guidelines do change over time and we are regularly learning about new genes that influence cancer risk. Genetic counselors can help you to navigate these changes over time to make sure that you are getting the most complete and appropriate testing based on your history.
Angelina Jolie’s efforts to increase education and awareness about hereditary cancer risk should be applauded but that awareness needs to be paired with expert guidance. You can find more information about genetic counseling and hereditary cancer testing in other recent NSGC blog posts: “Frequently Asked Questions About Genetic Testing and Cancer” and “Be a ‘Know-It-All’ About Your Breast Cancer Risk”.
To find a genetic counselor in your area, use our free tool FindaGeneticCounselor.com.
Mary Freivogel, MS, CGC, is President of NSGC and a Senior Manager of Clinical Service Lines at Invision Sally Jobe, a provider of outpatient imaging services with locations throughout the Denver metro area. Although Invision Sally Jobe provides various types of imaging, they are best known nationwide for their expertise in breast cancer screening and diagnosis.
Erica Ramos, MS, CGC, is the President-Elect of NSGC and is a genetic counselor at Illumina, the global leader in DNA sequencing and array-based technologies.