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BRCA testing underutilized despite access, coverage
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Many women with newly diagnosed breast cancer did not receive BRCA testing, despite having insurance coverage and access to specialty genetic services, according to a study published in Journal of the National Cancer Institute.
Although genetic testing for BRCA mutations has been available for decades, few population-based studies of test diffusion have been conducted.
For this reason, Kaiser Permanente researchers, in collaboration with the University of Washington, sought to examine 10-year trends in BRCA testing among 295,087 women across an integrated health care system with long-standing access to genetic services. They evaluated differences in testing rates between 2005 and 2015, including among clinically eligible subgroups based on family and personal cancer history.
According to study results, annual testing rates increased from 0.6 per 1,000 person-years to 0.8 per 1,000 person-years between 2005 and 2015 among women without incident breast cancer or ovarian cancer.
However, among women with incident diagnoses, rates decreased from 71.5 per 1,000 person-years to 44.4 per 1,000 person-years.
HemOnc Today spoke with Kathleen A. Leppig, MD, head of genetic services at Kaiser Permanente of Washington and clinical professor in the department of pathology at University of Washington, and Karen J. Wernli, PhD, associate investigator at Kaiser Permanente Washington Health Research Institute, about the study and the clinical implications for practice.
Question: What prompted this research?
Leppig: As head of genetics services at Kaiser Permanente Washington since 2000, I have been wanting to build the best program to identify patients who have an inherited risk for cancer and ensure those patients get the appropriate care. This has been driven by the work of the research institute and based on building a clinical program and understanding what we can do to provide the necessary care.
Wernli: Dr. Leppig reached out to me a few years ago to better understand how testing changed throughout time. Because we have strong data resources, we were able to design a study to address Dr. Leppig’s clinical questions. We are part of the Breast Cancer Surveillance Consortium, a large national registry of breast imaging data. As part of this research, our routine clinical care has adopted a patient risk factor form collected at the time of mammography.
Q: How was the study conducted?
Wernli: We looked at all women who were members of Kaiser Permanente Washington, aged older than 18 years and enrolled between 2005 and 2015. Women had to have a primary care appointment or be seen within the clinical care system so that we knew they were being cared for at Kaiser Permanente. They also had to live within a catchment area where we were able to ascertain a cancer diagnosis. With this information, we determined when they were diagnosed with breast or ovarian cancer and whether they received a subsequent BRCA test. The two study cohorts included women who did not have an incident cancer diagnosed during observation and women newly diagnosed with a breast or ovarian cancer during the study period. We used the Kaiser Permanente Washington data systems to count BRCA tests for each of the women in order to create annual testing rates.
Q: What did you find?
Wernli: Among all women, the use of BRCA testing increased from 2005 to 2015. However, the rates were quite low. When we looked at specific risk factors for hereditary breast or ovarian cancer, which are clinical indications for women who might be eligible for genetic testing, we found that a high proportion of women had not been tested. Among women diagnosed with breast or ovarian cancer, we found that overall those rates declined. Approximately 30% of these women were tested according to national clinical guidelines. A lot of this testing is occurring within the first year of a diagnosis. So, it seems that women who are newly diagnosed with cancer are receiving genetic testing right away. But, if it does not happen right away, they are not getting tested.
Q: Did any of your findings surprise you?
Wernli: We did not know what we would find. This is one of the first studies to look at detailed family history measures as well as prior cancer history indicating increased hereditary risk. No other study has been able to analyze women based upon these detailed risk factor categories.
Leppig: What surprised me was the information about family history. We need to ask the right questions about family history so we can identify findings suggestive of an inherited cancer risk. I have always had the sense that most women are tested within the first year of a new cancer diagnosis. We are currently building upon this observation by developing a clinic for women newly diagnosed with breast cancer that includes breast surgeons and oncologists as well as genetic counselors. As part of this clinic, we are present to make sure that the right women are offered genetic testing.
Q: What should clinicians do with this information?
Leppig: Clinicians should be aware that we can best use the information from genetics and genomics for familial cancers when there is an accurate family history. We are enhancing a family history tool in our medical record so that we can gather this information from patients, and we have a primary care provider contact genetic services when there is a patient with a concerning personal or family history. Genetic testing is a powerful tool and if we use it correctly, we can minimize morbidity and mortality.
Q: Is there anything else that you would like to mention?
Wernli: I would like to emphasize the uniqueness of this setting to evaluate these testing trends. Previous research that used claims or other health care systems data often could not combine women’s self-report of their personal and family history with the clinical data.
Leppig: Our collaboration and our systems are unique in the way we implement strategies across our health care system and make improvements. – by Jennifer Southall
References:
Knerr S, et al. J Natl Cancer Inst. 2019;doi:10.1093/jnci/djz008.
For more information:
Kathleen A. Leppig, MD, can be reached at Kaiser Permanente of Washington,
201 16th Ave. East, Seattle, WA 98112; email: Kathleen.A.Leppig@kp.org.
Karen J. Wernli, PhD, can be reached at Kaiser Permanente Washington Health Research Institute, 1730 Minor Ave., Suite 1600, Seattle WA 98101; email: Karen.J.Wernli@kp.org.
Disclosures: Leppig and Wernli report no relevant financial disclosures.