By Joseph Rosen
As noted in Siddhartha Mukherjee's book, "The Emperor of All Maladies: A Biography of Cancer," it is very difficult to treat a problem when you don't understand the cause. Although we have been treating cancer for millennia, it is only very recently that our understanding of genetics and molecular biology, the true cause of the problem, is beginning to provide us with information we can act on. We are now beginning to understand why some families with an inherited gene mutation have a much higher incident of cancer. Once those families are identified, we can institute customized prevention and risk reduction strategies.
The blueprint of our genes is composed of DNA stored in 23 chromosome pairs, one half received from each parent. The BRCA 1 and 2 gene mutations responsible for the majority of inherited breast and ovarian cancer were not discovered until the mid-1990s. In the year 2000, after a decade of work and $3 billion, for the first time in history, the entire genome of a human was sequenced. With new technologies and more companies competing, the same sequencing can be done today in a matter of weeks for one thousand dollars!
Recently president Obama announced a national initiative to develop and expand the field of "personalized medicine," also known as "precision medicine." This approach respects the idea that we are all unique and tailors medical interventions to the individual patient based on their predicted response or risk of disease. In spite of this new direction in medicine, some practices are still based on old models that assume we are all the same. Take the traditional recommendation of yearly mammogram screenings for all women over the age of 40. This recommendation assumes that all women in that age group are equally likely to develop breast cancer, yet we now know enough about genetic and other risk factors to know that some women are at a far greater risk than others. It's time to consider tailoring more aggressive screening efforts to those women who are at higher risk based on genetics or other factors, while maintaining a regular schedule of routine screening mammograms for women without known risk factors. All women over the age of 40 should be screened for breast cancer, but women determined to have a higher risk can benefit from earlier screening. As a work in progress, it is important to appreciate our limitations. At present, less than 10 percent of women diagnosed with breast cancer have an obviously identifiable gene mutation driving their risk. Another 20 percent come from families where there are more cancers, but it is less clear what gene mutations are the cause. It is important to remember this still leaves us with fully 70 percent of breast cancers occurring with no identifiable risk factors, other than being a woman and getting older. This group will still need routine screening mammograms. If only we had a test to tell us who would never get breast cancer!
For the 30 percent of women identified as having a high risk of developing breast cancer, customized screening and prevention strategies can make a big difference. The BMH Cancer Risk Assessment Program has been developed to identify and counsel women at high risk. If you come from a family with a history of: Multiple breast and/or ovarian cancers; cancers diagnosed at an early age; bilateral breast disease; males with breast cancer; and a known genetic mutation in the family.
This program can provide you with access to information, screening, and other services so that you can understand your risk for developing cancer and get support in developing a pro-active, personal plan for reducing your risk. Women will be able to access program services in three ways: We are working with primary care providers to encourage them to refer women with significant risk factors well before the age of routine screening mammography, possibly as early as their teens and twenties. For women with a BRCA mutation, annual MRI screening is recommended starting at age 25; women with significant family histories are encouraged to refer themselves; all women coming in for a routine mammogram will be asked to complete a survey, which assesses their level of risk of developing breast cancer.
Women determined to have significant risk factors will be offered the services of the program.
If you are determined to be at risk, you will be referred to our Breast Care Nurse Navigator for preliminary screening and based on the level of risk, the nurse navigator will assist you in making consultation appointments with our staff trained in high risk or genetic counseling. For more information on the BMH Cancer Risk Assessment Program, please contact Kelly McCue, at 802-251-8437.