There are large racial disparities in the use of genetic testing for breast and ovarian cancer, according to a study in the April 13 issue of JAMA.
Mutations in the genes BRCA1 or BRCA2 confer a significantly increased risk of breast and ovarian cancer, according to background information in the article. Women with a BRCA1/2 mutation have a lifetime breast cancer risk of 50 percent to 85 percent and a lifetime ovarian cancer risk of 14 percent to 40 percent. Testing for mutations in BRCA1/2 can provide individual information about breast and ovarian cancer risk that may affect decisions about prophylactic surgery, chemoprevention, and screening. Although clinical testing for BRCA1/2 mutations became available in 1996, relatively little is known about the determinants of testing use in the general population, including potential racial differences in utilization.
Katrina Armstrong, M.D., M.S.C.E., of the University of Pennsylvania School of Medicine, Philadelphia, and colleagues conducted a study to assess the association between race and use of genetic counseling for BRCA1/2 testing among women at risk of carrying a BRCA1/2 mutation and to evaluate the potential contributions of cancer risk perception and worry, socioeconomic characteristics and attitudes about genetic testing.
The study, conducted from December 1999 to August 2003, included 408 women with a family history of breast or ovarian cancer, of whom 217 underwent genetic counseling for BRCA1/2 testing (cases) and 191 women did not (controls).
The researchers found that "African American women with a family history of breast or ovarian cancer are much less likely [78 percent less likely] to undergo genetic counseling for BRCA1/2 testing than are white women with a family history of breast or ovarian cancer. Furthermore, this racial disparity is not explained by differences in the probability of carrying a BRCA1/2 mutation, socioeconomic status, cancer risk perception and worry, attitudes about BRCA1/2 testing, or primary care physician discussions of BRCA1/2 testing."
"The complex and highly charged relationship between race and genetics presents a substantial challenge to the translation of advances in human genetics into improvements in health. Although empirical evidence of racial disparities in the utilization of BRCA1/2 counseling provides important information about this challenge, it only further highlights the need to move forward in developing health and social policy that ensures the potential benefits of the Human Genome Project are realized for all segments of the U.S. population," the authors write.
Editor's Note: Dr. Armstrong is supported by the American Cancer Clinical Research Training Grant and the Robert Wood Johnson Generalist Physician Faculty Scholar Award.
Editorial: Confronting Genetic Testing Disparities - Knowledge Is Power
In an accompanying editorial, Michael Hall, M.D., and Olufunmilayo I. Olopade, M.B.B.S., of the University of Chicago, discuss the findings by Armstrong et al.
"Beyond simply demonstrating the disproportionate utilization of highly specialized primary prevention counseling, the authors expose a more basic health care disparity in access to care in the United States. In the study's urban-based (Philadelphia) hospital setting, in a city that is 43 percent African American and 45 percent white, the population receiving specialized primary prevention counseling in cancer was only 6.7 percent African American. The reason for this may be an unfortunate synergism of access barriers to preventive care that is compounded by other systemic barriers in cancer care. Clearly, access to preventive medical care in the United States is by no means equally distributed. The National Healthcare Quality Report, released in 2003, and the National Healthcare Disparities Report found that one of the greatest weaknesses in the U.S. health care system is the under-use of general preventive care."
"Perhaps a second important explanation for the racial disparities in genetic testing and the broader disparities of the American health care system can be appreciated through the findings of Armstrong et al and from results of the 2000 National Health Interview Survey. In the study, the authors show that in the 3 areas of perceived risk (BRCA mutation, breast cancer, and ovarian cancer), average-risk African American controls had consistently lower scores (a greater proportion reported 'less than average' risk) than white counterparts. In the National Health Interview Survey, investigators found that while 49.9 percent of whites reported that they had heard of genetic testing for cancer risk, this proportion was only 32.9 percent among African Americans and 20.6 percent among Hispanics (men and women). The common thread in these 2 examples was the power of knowledge (personal and community-wide knowledge base of clinical cancer genetics) hailed by Bacon over 4 centuries ago. The average African American woman underestimates her risk of breast cancer and African Americans are on the whole less aware of genetic testing technology as a means of assessing personal risk," the authors write.
"The benefits gained from risk assessment, genetic counseling, intensive screening, as well as risk modifying behaviors, medications, and surgeries will remain unrealized for the majority of mutation carriers until efforts are increased to define and bridge the racial, ethnic, economic, and knowledge-based disparities that contribute to the unequal access and utilization of preventive medical services. Only by improving the ability to recognize and define cancer risk in all Americans can cancer control efforts be targeted effectively to reduce disparities in health outcomes," the authors conclude.
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