ASBS Recommends Genetic Testing For ALL Women Diagnosed with Breast Cancer
By Patricia Thompson
Recently, the American Society of Breast Surgeons (ASBS) updated its guidelines to state that “genetic testing should be made available to all patients with a personal history of breast cancer.” Previously, the guidelines only recommended testing be considered for individuals diagnosed under 50 years old and those with certain types of breast cancer (e.g. triple negative). When I read this guideline update, I have to admit that I did not completely understand the reasoning behind this change. The vast majority of cancers are sporadic, meaning not hereditary, which is different than what most people outside of the genetics community often think. Genetic testing for cancer syndromes concerns those cancers which arise as the result of a hereditary gene mutation. If one of these gene mutations is present, we tend to see cancer occur in younger people (under the age of 50), related cancers occurring within a family or individual (i.e. breast and ovarian cancer), or an individual with multiple primary cancers. This happens because the gene mutation removes some of the individual’s extra protection against tumor formation, leading to a higher chance for cancer to develop. These testing criteria exist to give clinicians a better idea of who might be at a higher chance for having a familial gene mutation.
So why should genetic testing be offered to all individuals with a personal diagnosis of breast cancer? At the suggestion of a mentor, I decided to look at this topic from a public health perspective by using Wilson and Jungner’s criteria for public health screening. This is the same criteria that is used when a new condition is under consideration to be added to newborn screening.
The condition sought should be an important health problem.
Important is surely a subjective term, and a health problem could be anything from asthma to Alzheimer’s disease. So, what makes something an important health problem? The lifetime risk for breast cancer in the general population is 12.4% according to cancer.gov, which is about a 1 in 8 chance.
There should be an accepted treatment for patients with recognized disease.
This is a bit hard to define — what is “accepted”? It is not uncommon to see patients choose different treatment options. However, all of the treatments offered to patients are considered acceptable treatment options. Patients must then choose the course of treatment that is best for them. Radiation and chemotherapy are options for non-surgical treatment of breast cancer that could be optimized by knowing someone’s genetic status. There are surgical options, such as lumpectomies or mastectomies, which are available to those who choose this route. Sometimes a combination of these two methods is used.
Facilities for diagnosis and treatment should be available.
There are cancer centers across the United States that offer all the options mentioned above for treatment and diagnosis. These centers offer mammograms, breast MRIs, and ultrasounds as screening options to assist in diagnosing and staging cancer.
Breast awareness begins at age 18 for all women. This means being familiar with the breast, by doing self-breast exams, and reporting any changes to your physician without delay. Beginning to look for signs of lumps early on will allow any abnormalities to be caught and examined earlier, leading to better outcomes. As mentioned, patients who are found to have breast cancer have many options for treatment. The average 5-year survival rate is 90% and average 10-year survival rate is 83% according to cancer.net. This suggests that there is treatment available and that it is successful for the vast majority of patients.
There should be a recognizable latent or early symptomatic stage.
Often breast cancer can be caught in the early stages because of breast awareness and screening efforts, including annual mammograms and breast MRIs. It is recognized by a palpable mass or lump in the breast, and it is known to be in the early stages because it has not yet metastasized to other parts of the body.
There should be a suitable test or examination.
Mammography is the best tool doctors have for detecting breast cancer. Over the years many studies have looked at different modalities with considerations such as cost, ease of procedure, accuracy, and access, but mammography has proven to be standard of care for screening for breast cancer in healthy women. However, there are many other modalities, such as breast MRI and breast ultrasound, that can be utilized to supplement the information provided by a mammogram.
The test should be acceptable to the population.
According to the CDC, about 65% of women over 40 get their annual mammograms. I’ve never had to have a mammogram, but I have heard it can be an uncomfortable procedure. However, the annual discomfort to screen is seemingly much better than the alternative. The goal of preventative medicine is that by doing these screenings, we will catch disease early enough to prevent it from spreading, and ultimately reduce mortality.
The natural history of the condition, including development from latent to declared disease, should be adequately understood.
Not only does knowing the ER/PR status of a tumor aid in understanding the natural history of disease and, therefore, treating it, but genetic testing could be a part of that as well. Initially, testing everyone with a personal diagnosis of breast cancer could lead to a rise in inconclusive results (VUSs). VUSs are called such because the laboratory typically does not have enough information about a variant to classify it either benign or pathogenic at the time of testing. However, if more people with breast cancer are being tested, then this could allow us to understand the natural history of the disease sooner than we might otherwise.
There should be an agreed policy on whom to treat as patients.
Patients are typically treated by a team of doctors. In the case of breast cancer, there is an oncologist, a breast surgeon, a genetic counselor, and many other doctors who all collaborate and work with the patient to decide on the best course of treatment. Typically, the oncologist is the coordinating doctor and if other referrals are needed, they will be sent through this office.
The cost of case-finding (including diagnosis and treatment of patients diagnosed) should be economically balanced in relation to possible expenditure on medical care as a whole.
The cost of genetic testing has dramatically dropped over the past several years. In fact, there are many labs that will do cancer panels, test a number of genes known to be related to a specific type of cancer, for a few hundred dollars. Having this information will allow for better treatment when cancer is in early stages, which costs less and is more effective than treating cancer in its later stages, bring awareness to families that may have a recognized hereditary predisposition to cancer due to a pathogenic gene mutation, and prevent possible secondary cancers in a person with a genetic mutation that could have otherwise gone unnoticed.
Interestingly, the United States Preventive Services Task Force (USPSTF), which is a task force that makes recommendations about preventive services, such as screening recommendations, currently advises against routine genetic testing and genetic counseling. They recommend genetic testing only for those with a family history that is suspicious for a genetic mutation, and suggest using one of the many tools designed to identify families that might be at an increased risk for such potentially harmful mutations.
Case-finding should be a continuing process and not a “once and for all” project.
Cancer, is very common in the general population. We have some effective treatments for cancer, but no way to prevent it. Therefore, cancer is an ongoing battle.
When viewed through this lens, I think the change to offer genetic testing as a part of a routine workup for individuals diagnosed with breast cancer can be better understood. But where there is genetic testing, there should be genetic counseling. Genetic counselors are trained in both the psychosocial and medical aspects of genetic diseases. Therefore, they are well equipped to guide a patient through the decision making process, while providing emotional support and explaining difficult medical concepts at an understandable level.
Further Reading & Quality News Coverage:
ASBS Consensus Guideline on Genetic Testing for Hereditary Breast Cancer. February 10, 2019.
ASBS Statement: Hereditary Genetic Testing for Patients With and Without Breast Cancer. March 14, 2017 (superseded)
Final Recommendation Statement. BRCA-Related Cancer: Risk Assessment, Genetic Counseling, and Genetic Testing. United States Preventive Services Task Force. December 2013.
Draft Recommendation Statement. BRCA-Related Cancer: Risk Assessment, Genetic Counseling, and Genetic Testing. United States Preventive Services Task Force. (Open for public comment until March 18, 2019.)
Anne Andermann et al. “Revisiting Wilson and Jungner criteria in the genomic age: a review of screening criteria over the past 40 years.” Bulletin of the World Health Organization. April 2008.