Educating Patients — and Doctors — About Genetic Testing
“I would like to know more about testing for hereditary cancer risk. My mother had breast cancer and my sister had ovarian cancer. I asked my primary doctor about genetic testing, but she said that I don’t need it; as long as I am healthy, I’m good. What should I do?”
As a genetic counselor, I am asked a variation of this question frequently; from friends, neighbors, acquaintances, etc. There is a lot of confusion out there about hereditary cancer risk and genetic testing, especially related to BRCA.
The news that most individuals undergoing genetic testing for hereditary cancer risk susceptibility (such as the BRCA gene) are doing so without first meeting with a genetic counselor didn’t surprise me. After all, there are only about 4,000 genetic counselors in the U.S., with roughly 25-30% of genetic counselors working in the realm of cancer genetics. Genetic counselors tend to be clustered in urban areas, and some states have only a handful of genetic counselors for the whole state, meaning, that many individuals who would benefit from genetic counseling may not have access to one.
Genetic counselors are healthcare providers who are specifically trained in the realms of clinical genetics, family history risk assessment, and decision-making counseling. It is our job to identify appropriate genetic testing based on personal and/or family history of cancer, obtain informed consent (or informed refusal), and to interpret the results of genetic testing for both patients and healthcare providers. A typical cancer genetic counseling session may last 1-2 hours. You do the math. It is impossible for every individual who needs genetic testing to first meet with a genetic counselor. That would unfortunately result in individuals who need it not getting the appropriate genetic testing. It is a numbers game, which has most of us in the field of clinical genetics thinking about what the best approach is.
One possible approach, which Dr. Steven Narod advocates for, is for physicians to order testing without first referring to genetic counselors. But while physicians do keep up to date on guidelines in their own specialties, rarely do they have the time to stay up to date on new guidelines in additional specialties, such as genetics. This means that physicians may be somewhat blindly venturing in to the realm of clinical genetic testing, a role they may not be comfortable with, or be able to provide the best care to their patients.
As part of this approach, some have advocated for genetic counselors to take on a support role for physicians, in order to empower physicians to order their own genetic testing, and help ensure that the test selected is the most appropriate for a given patient. I have a number of colleagues who work in these roles, and while they do not see patients anymore, they are integrally involved in patient care, as they educate healthcare providers so that they can feel more comfortable ordering and interpreting genetic test results.
Maybe more importantly, what I took away from the, is that whether physicians order genetic testing themselves or refer to a genetic counselor, they are the first line responders; those who are identifying which patients may benefit from genetic testing. This can be detrimental if physicians tell their patients that genetic testing is not warranted based on the history reported, while in fact genetic testing is warranted, the physician just is not familiar enough with national guidelines. This is exceedingly relevant for Jewish women, as guidelines for BRCA testing for those of Ashkenazi ancestry are much more lax. Most physicians just don’t know it.
The National Comprehensive Cancer Network (NCCN) and the United State Protective Services Task Force (USPSTF) both have guidelines for when hereditary cancer genetic testing is appropriate. Both of these guidelines identify individuals of Ashkenazi Jews as a population for whom BRCA testing may be appropriate even in the absence of a particularly strong family history of breast or ovarian cancer. Let me be clear: the threshold to order BRCA testing is very low for someone who is Ashkenazi.
According to the most recent NCCN guidelines, if you are Ashkenazi, and have had one close relative (mother, father, sister, brother, aunt, uncle, grandparent, child, grandchild, niece, nephew) who has had breast, ovarian, or pancreatic cancer, at any age, then BRCA testing would be appropriate for you. This is because BRCA mutations are much more common in the Ashkenazi population (1 in 40 Ashkenazis vs. 1 in 500 in the general population). Unfortunately, I continue to hear anecdotes of Ashkenazi individuals who meet the above criteria, whose doctors mistakenly told them that their family history did not warrant genetic testing. This includes families with paternal family histories of cancer which were overlooked because, as the physicians stated, breast cancer on your father’s side of the family is not worrisome and does not increase your risk. Sadly, the end result is that these individuals get turned away, when genetic testing could greatly benefit their health, and their family’s health.
The Program for Jewish Genetic Health at Montefiore Medical Center and the Albert Einstein College of Medicine has been studying BRCA testing in the Jewish community, particularly focusing on those without a significant personal or family history of cancer. We have been conducting group genetic counseling sessions for those individuals from “low risk families” as a way to reach more people. Those with a history of breast, ovarian, or pancreatic cancer are referred for a formal one-on-one genetic counseling session. Anecdotally, but again, not surprisingly, many participants think that they should fall into a “low risk” category, even when they have a family history of cancer that would warrant genetic testing (see above). Perhaps physicians and patients alike are not familiar with the guidelines; which means that we need to do a better job at education.
Chana Wiesman, MS, CGC is a certified genetic counselor at Montefiore Medical Center and with the Program for Jewish Genetic Health. You can find a local genetic counselor by visiting nsgc.org