Breast Cancer: Know Your Genetic Risk Assessment with Dr. Holly Pederson

https://mcdn.podbean.com/mf/web/utuege/dr_pederson_-_10_25_21_711_PMb7so2.mp3

EPISODE SUMMARY:

Holly Pederson, an MD and Director of Medical Breast Services at Cleveland Clinic, is an expert on breast cancer and its risk factors. In today’s episode, we sat down with Dr. Pederson to discuss the risk assessment for breast cancer, genetic testing, 3D mammograms, and the correlation between breast density and breast cancer.

First, we asked Dr. Pederson about risk assessments for breast cancer. She told us that although we tend to become more concerned with breast cancer in midlife, hereditary factors can cause cancers to start as early as at the age of 30, with screenings starting at 25. The American College of Radiology suggests that all women should have a risk assessment done before they turn 30. The risk assessment involves a careful, thorough intake of family history with cancer and reporting the results to a health care provider to see your testing eligibility. If someone close to you in your family meets the criteria, then you are considered eligible for testing. According to Dr. Pederson, 1 in 4 women is eligible for genetic testing that would be paid for by insurance. For the genetic testing, the test includes meeting with a doctor and giving a blood or saliva sample. The DNA within the sample is then evaluated for changes within highly penetrant and moderately penetrant genes.

When asked about the reliability of direct-to-consumer genetic tests, such as 23andme, Dr. Pederson said that those tests are often misleading. The tests do not make clear to consumers that the entire panel of genes are not tested, but rather only three founder mutations found in the Jewish population and present in only .06% of the non-Jewish population. The danger of this is that women who receive an inaccurate negative result, even if they are high risk, will think they are in the clear and not seek further testing. Another problem with direct-to-consumer genetic tests is that they sell the information and DNA they receive from customers to other companies for research. We also asked Dr. Pederson for her thoughts on why women are often reluctant to receive genetic testing or even self-exam. She explained that she finds it ridiculous when groups advise against self-exams for breast cancer and debate against mammography. The data surrounding mammography has been solid for a long time and annual mammograms starting at age 40 are recommended. However, the reluctance to receive a mammogram does not always have to do with data. Women who are from high-risk families are least likely to come forward and receive testing from fear. The fear of surgery is also a factor that keeps women from going for testing.

For the differences between 3D and non-3D mammograms, the statistics are not too far apart, with a 1.5% increase in breast cancers per 1000 women in 3D mammograms. MRIs, however, diagnosis 18-25 more women per 1000 women screened. Full sequence MRIs are reserved for high-risk patients, but a new abbreviated MRI technology is available at many institutions and is recommended for women with dense breast tissue. Dr. Pederson also discussed preventive medications for breast cancer. Tamoxifen is the only medication that can be given to pre-menopausal women, and it is post-menopausal women who are at a slightly higher risk for extreme side effects. Women with atypical hyperplasia can also take medication to reduce their risk for breast cancer. When discussing the different types of breast cancers, Dr. Pederson told us about triple negative breast cancer. Triple negative breast cancer is more common in black women, occurs earlier, is more aggressive, and the only ways to reduce risk are with a healthy weight and breastfeeding. She said that genes can predispose people to estrogen positive and estrogen negative breast cancers, and she also brought up lobular breast cancer, which is associated with the CDHI gene and accounts for 15% of all breast cancers. Lobular breast cancer can hide from mammograms or even ultrasounds, and Dr. Pederson emphasized the importance of being your own health advocate and seeking the help you feel is necessary.

We also discussed breast density, and Dr. Pederson mentioned that a new federal law is in place stating that all women need to be told their breast density. She said that in our 30s, 70% of women have dense breasts, and after age 40, 50% of women have dense breasts. The density of breasts not only can hide things on examinations but is also an independent risk factor for breast cancer. Those with the highest degree of breast density are 4 times more likely to get breast cancer than those with the lowest degree of breast density. For testing, Dr. Pederson told us about an upcoming polygenic risk score genome test. Through the test, genomic information is used to determine level of risk, and the results found can have beneficial outcomes. The test can help identify low risk women for the first time and help women who are diagnosed make choices about their treatment. Dr. Pederson also mentioned Jenre2, a study she is working on with the Mayo Clinic that asks the question if you knew your risk score, would that influence your decision to consider preventative medication?

Finally, we spoke to Dr. Pederson about the stresses and difficulties of doctors not being properly educated when it comes to breast cancer and even menopause. She shared in our frustration, telling us that the lack of education and the inability to properly relay information to a patient causes huge gaps. Providers need to not only know but communicate the information so patients can make their own plans understanding the whole picture. Dr. Pederson is currently working on an online fellowship for women’s healthcare providers to help educate them. She also told us about the Cure Act, which states that all medical results must be automatically released to mychart without explanation from the provider as a way to combat information blocking by physicians. Dr. Pederson said that by doing this, patients are receiving results that they have no idea how to interpret. Results are written for medical professionals to interpret, so by releasing them to patients without explanation, confusion and misinterpretations arise.

Dr. Holly Pederson

Holly Pederson, MD, is a Staff Physician and Director of Medical Breast Services in the Breast Center. She is an Associate Professor at Cleveland Clinic Lerner College of Medicine of Case Western Reserve University.

After receiving her BA in Biochemistry from the University of California-Santa Barbara where she received the distinction of Phi Beta Kappa, Dr. Pederson earned her medical degree from the University of California-San Francisco School of Medicine where she was recognized in the Alpha Omega Alpha honors society. She completed her internship and residency at the University of California San Francisco Medical Center in Internal Medicine, and in 2008 completed a clinical fellowship in Genomics at Cleveland Clinic. She directs the Medical Breast Program and is active in clinical research.