Who specializes in the early detection of breast cancer? Stated alternatively, which of the current breast-dedicated specialties incorporates all aspects of early diagnosis? I was asked this question once by a researcher who had an idea to improve cancer detection, but was having difficulty generating interest in her approach. No single specialty was able to cover all aspects of early detection. Most would answer that a “breast radiologist” is in charge of early detection, but what if the proposed improvement in screening has nothing to do with radiology? Where does that researcher turn? Who does that innovator contact for collaboration?
When I returned to my alma mater in 1989, with the mission to convert a pre-existing mammography screening center into a full-fledged multidisciplinary breast center, I discovered some major holes in the screening process. As a general surgeon-turned-breast surgeon, my practice was heavily skewed toward younger women with breast cancer, and roughly half of my new patients carried their breast cancer diagnosis in one hand and their normal mammograms in the other. I became skeptical of the “90% detection rate” that had been ascribed to mammography, and when I tried to find the source for that truism, I was shocked to discover its flimsy origins. It simply wasn’t true. At the time, however, I attributed my personal experience to the fact that so many of my patients were younger, where mammograms are known to be less reliable. So, for a while, I kept my concerns about mammography to myself, thinking, “Obviously, I’m missing something.” (I was not.)
Another aspect of my job was teaching residents and medical students. By focusing entirely on breast cancer, I thought I could assimilate virtually everything known about the disease to allow me to teach residents from all specialties. In that pre-internet era, I had help from the Department of Surgery librarian who used her computer to access everything published on breast cancer. To my shock, she found 500-600 articles every month, originating from several hundred journals, and it took me many hours just to scan the titles and abstracts. I would then circle the 50 or so articles I needed to review more closely. I also studied the landmark historical articles for better perspective on the natural history of breast cancer, including the “rat lab” studies performed by Dr. Bernie Fisher in the 1950s and 1960s, leading to the formulation of his “alternative theory” that revolutionized the management of breast cancer.
Because the sheer volume of “up front” early diagnosis and treatment literature was so daunting, I gave up trying to follow all but the landmark developments in medical oncology and radiation oncology, specialties involved more with treatment than diagnosis. All the while, I continued my search as to the true detection rate of mammography, increasingly convinced that the numbers being fed to the public were too optimistic. Coupled to this concern over the “hole” in mammography was the corollary that we needed to fill that hole. New methods of breast imaging were on the horizon, but who should undergo “double imaging” or even “triple imaging?” And how could the healthcare system afford such expensive screening?
Over the course of the next 15 years, my interests shifted earlier and earlier, toward improvements in screening, especially breast MRI, such that I gave up breast cancer surgery in 2004, becoming a full-time specialist in early diagnosis. And that’s where the problems with nomenclature began – what do you call a physician who specializes in early diagnosis? A major health insurer considered it a problem as well – they dropped me as a provider as they had no pigeon-hole that would allow them to “code” my specialty for billing purposes. (Are you a board-certified radiologist? No. Are you a board certified pathologist? No. Are you a board-certified geneticist? No. But you are a board-certified surgeon who does not do surgery? Correct.) It took 3 years and countless phone calls to get re-instated, the final conversation being when I called the medical director at the national headquarters.
The easiest description of my current practice is that I run a “high risk surveillance clinic” where women at increased risk for breast cancer undergo aggressive surveillance, with the intent to capture cancer before it becomes palpable. It’s much more complicated than that, but detailed explanations often confuse rather than illuminate. In presentations to curious community groups, I would explain why I was no longer doing surgery and, instead, working within a “9-point matrix,” which had required intensive self-education over many years, unrelated to traditional credentials. Although “9 points” can be overwhelming, here are the components of my practice and my research today:
1. Epidemiology of Screening — a complex and controversial subject to which some epidemiologists have devoted their entire careers. One can be an excellent breast radiologist, yet the epidemiologic controversies that underlie screening with mammography (or any other tool) can remain foreign.
2. Natural History of Breast Cancer — both invasive and in situ, the latter far more controversial as the natural history is quite complex and largely unknown. Yet, understanding the natural history and biology of cancer is a critical component of screening efficacy.
3. Breast Imaging — all modalities in current use, as well as potential improvements and how they compare when used alone or together. This includes the powerful impact that breast density has on mammographic sensitivity, not to mention its role as an independent risk factor that is not yet included in the standard mathematical models. Long before mammographic density became a cause célèbre in breast imaging, we focused heavily on this feature in our patients beginning in 1999. In 2008, we published our first results with MRI screening wherein density played an equal role to traditional risk factors.
4. Image-histologic Correlations — Does a benign biopsy truly represent the target that was addressed on imaging? Every radiologist is required to record “concordant” or “discordant,” but often, one cannot be sure.
5. Benign and Premalignant Breast Pathology — With a background in pathology (one year fellowship at UCLA), I spent many years in a self-education process addressing the risk levels imparted by various findings on benign biopsies. Also, lesions that are “borderline” for cancer are more common and more subjective than clinicians often appreciate. Any time that I felt there could be a change in diagnosis, I referred the microscope slides to noted breast pathology expert, David L. Page, MD.
6. Risk Assessment and Discussion of Interventions — that is, quantifying risk factors so that patients can make decisions about interventions based on objective probabilities, expressed as a “percentage risk over a defined period of time.” In general, these interventions are surgical (preventive mastectomy and various methods of reconstruction), pharmacologic risk reduction with hormone blockers, and multi-modality screening.
7. Genetic Testing — identifying family history pedigrees that prompt genetic testing for mutations that strongly predispose to cancer (of all types), above what the family history alone would indicate. (or, in the case of someone who tests negative in a family known to carry such mutation already, that individual has the luxury of a lower risk of cancer). “Risk assessment” often leads to genetic testing, but they are different approaches toward the same goal – quantifying risk to allow appropriate interventions.
8. Accessory Risk Stratifiers, such as cytologic sampling — in the 1980s, I used the term “Pap Smear of the Breast” for this research agenda that came to fruition around 2001. Unfortunately, cytology has lost ground, even though it is a valid approach to stratifying risk. Another example would be “SNPs” (single nucleotide polymorphisms), genetic profiles where minor variations appear to translate to a modest risk elevation for cancer. SNPs do not have the power of single-gene predispositions that run through family pedigrees. Then, with the commercialization of multi-gene panels in 2013 where we test for 20+ genes in one test, added to standard BRCA genetic testing, SNPs have lost ground similar to cytologic sampling. (All these stratifiers have come under the gun of cost-effectiveness – i.e., does it really pay to screen for risk factors, when screening for actual disease is under fire?)
9. Blood Testing Research (and other approaches to identify patients who are harboring mammographically occult disease) — That is, can we identify those women who are being told “Your mammogram is negative,” but who actually have breast cancer that would be easily identified on ultrasound or MRI (or other tools such as molecular imaging)? This approach is highly appealing because it is open to all women, regardless of risk stratification (recall that most women who develop breast cancer don’t have identifiable risk factors, so using better imaging techniques only for at-risk women automatically excludes the majority of breast cancer patients).
Blood testing is not the only way to improve screening universally, that is, to all women independent of risk levels. We also collaborate with computer engineers who are looking at “normal” mammograms to see if the computer can identify subtle changes that escape the human eye, and can also escape today’s “computer-assisted diagnosis,” (a.k.a. “CAD”). By comparing to prior studies, subtle changes still considered “normal” could trigger enough concern to proceed with MRI.
As a result of the above, when a patient comes through our “high risk” program, not only does she receive a clinical exam and consideration for multi-modality imaging, but also she might be participating in 2 screening studies as well. Her mammograms (and possibly MRI) might be studied at the Advanced Cancer Imaging lab in Norman, Oklahoma, an outreach of the OU Stephenson Cancer Institute. This project recently received $2.5 million R-01 grant funding from the National Cancer Institute, continuing through 2020. Then, she might participate in blood testing research where her provided sample will be separated and frozen, eventually shipped to researchers around the world working to find a blood test.
In summary, what do you call a physician who specializes in early detection of breast cancer? Answer: weary.