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Special populations: women who are interested in genetic counseling and testing; women who are at high risk of carrying a gene mutation that increases cancer risk
Patients can now find out if they have a mutation in more than 20 different genes that are associated with cancer risk, thanks to research advances and the decreasing cost of genetic testing. However, patients’ experiences and use of genetic counseling and testing with these changes are unknown. Do patients want genetic testing? Are they getting tested? (3/7/17)
Understanding breast cancer patients’ experiences with genetic counseling and genetic testing.
Because of new technology, genetic testing has now become more affordable and easier than ever. Panel testing allows for simultaneous testing of multiple genes from each patient. However, not much is known about patients’ experiences with genetic testing and counseling now that they can have more genes tested at a lower cost.
This study suggests that patients diagnosed with breast cancer want genetic counseling and testing, but due to various reasons, not all patients who meet national guidelines for genetics evaluation are getting these recommended high-risk services. More work is needed to assure that all breast cancer patients who meet national guidelines and want genetic testing have access. In the meantime, breast cancer patients should talk to their health care providers about genetic counseling and testing if they have one or more of the following:
The same article was also covered by Yahoo
Genetic testing is becoming increasingly available and more affordable. In the past few years, panel tests identifying mutations in multiple genes that increase a person’s risk for cancer have become widely available. Twenty years ago, genetic testing only identified whether an individual’s DNA had changes in the BRCA genes. Now, panel testing simultaneously searches for mutations in more than 20 different genes that are associated with increased cancer risk. This study looks at breast cancer patients’ experiences with genetic testing in this new environment.
Allison Kurian and colleagues from Stanford University and other institutions published work in the Journal of the American Medical Association in February 2017; they collected data on breast cancer patient preferences and experiences with genetic testing.
What are breast cancer patients’ experiences with genetic counseling and testing?
The study included 2,529 women between the ages of 20 and 79 who were diagnosed with stages 0-II breast cancer between July 2013 and September 2014. These women were identified from the Surveillance Epidemiology and End Results (SEER) data registries from Georgia and Los Angeles County.
Women in the study were mailed surveys that questioned them about:
Women from this population were categorized as high risk for carrying a mutation in a gene that increases cancer risk if they met one or more of the following criteria:
All other women were classified as having an average risk of carrying a mutation in a cancer risk-increasing gene.
Individuals who were older or of Asian ethnicity were less likely to have genetic testing.
Because this study used self-reported survey results, the chance for error and bias exists. Additionally, only patients from Georgia and Los Angeles County were included in this study, so it is unknown if the results can be generalized more broadly. Finally, for the reasons why genetic testing was not pursued, this study only included the patient perspective and did not get the perspective from the healthcare provider.
This study suggests that patients want genetic counseling and testing, but various reasons keep many of them from getting these services. Only 53% of women from this study who were at high risk for carrying a mutation in a gene associated with increased cancer risk had genetic testing. Also of note: only 40% of women at high risk for having a mutation had genetic counseling. More work needs to be done to understand why this occurs and how access to genetic counseling and testing can be improved. Meanwhile, patients who are concerned about carrying a mutation in a gene that increases cancer risk should talk to their healthcare providers and/or a genetics expert.
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Kurian AW, Griffith KA, Hamilton AS, et al. “Genetic testing and counseling among patients with newly diagnosed breast cancer.” Journal of the American Medical Association. 2017; 317(5): 531-534.
FORCE information: Should I get genetic testing?
FORCE Information: National Guidelines for Genetic Testing
FORCE Information: Genetic Counseling and Risk Assessment
FORCE Information: Paying for Genetic Services
FORCE XRAYS: BRCA testing in young women with breast cancer
FORCE XRAYS: Racial disparities in BRCA testing: Why?