Genetic Testing For Hereditary Breast and Ovarian Cancers Greatly Underutilized By High-Risk Women

A women’s lifetime breast cancer risk is approximately 13 percent, and her ovarian cancer risk is less than 2 percent.  But women with BRCA1 (BReast CAncer 1) or BRCA2 (BReast CAncer 2) gene mutations may be 3 to 7 times more likely to develop breast cancer, and 9 to 30 times more likely to develop ovarian cancer, respectively, than women who do not possess such mutations. A recent report, published online in the Journal of General Internal Medicine on May 20, 2009, states that genetic testing of high-risk women for hereditary breast and ovarian cancers is greatly underutilized.


According to investigators at the Massachusetts General Hospital Institute For Health Policy & Dana-Farber Cancer Institute, genetic testing for breast and ovarian cancers is underutilized by women at high-risk for the diseases.

According to investigators at the Massachusetts General Hospital Institute For Health Policy & Dana-Farber Cancer Institute, genetic testing for breast and ovarian cancers is greatly underutilized by women at high-risk for the diseases.

A women’s lifetime breast cancer risk is approximately 13 percent, and her ovarian cancer risk is less than 2 percent.  But women with BRCA1 (BReast CAncer 1) or BRCA2 (BReast CAncer 2) gene mutations may be 3 to 7 times more likely to develop breast cancer, and 9 to 30 times more likely to develop ovarian cancer, respectively, than women who do not possess such mutations. A recent report, published online in the Journal of General Internal Medicine on May 20, 2009, states that genetic testing of high-risk women for hereditary breast and ovarian cancers is greatly underutilized.

The investigators reporting were associated with the Massachusetts General Hospital (MGH) Institute For Health Policy and Dana-Farber Cancer Institute. “Testing for BRCA1 and 2 gene mutations has been around a long time and should be a good indicator of whether genetic testing is making its way into regular medical practice,” says Douglas E. Levy, Ph.D., of the MGH Institute for Health Policy, the study’s lead author. “When a well-established genetic test is not being incorporated into clinical practice when appropriate, we are a long way from meeting the promise of personalized, genetically-tailored medical care.”

BRCA1/BRCA2 genetic mutation testing is one of the most well-established genetic tests to predict cancer risk. Guidelines are available to help clinicians determine who will benefit most from testing.  On March 24, 2009, Libby’s H*O*P*E*™ reported on the new practice bulletin issued by the Society of Gynecologic Oncologists (SGO) and the American College of Obstetricians and Gynecologists (ACOG) which recommends that doctors engage in routine screening for hereditary breast and ovarian cancers.  The new bulletin addresses the ob-gyn’s role in identifying, managing, and counseling patients with an inherited cancer risk.

Hereditary breast and ovarian cancer syndrome is an inherited cancer-susceptibility syndrome marked by multiple family members with breast cancer, ovarian cancer or both; the presence of both breast and ovarian cancer in a single individual; and early age of breast cancer onset. Women with either BRCA gene mutation have a 65%-74% chance of developing breast cancer in their lifetime. Ovarian cancer risk is increased by 39%-46% in women with a BRCA1 gene mutation and by 12-20% in women with a BRCA2 gene mutation. Approximately 1 in 300 to 1 in 800 individuals in the United States are BRCA1/BRCA2 gene mutation carriers. BRCA gene mutations may occur more frequently in some populations founded by small ancestral groups, such as Ashkenazi (Eastern European) Jews, French Canadians, and Icelanders. For example, an estimated 1 in 40 Ashkenazi Jews possesses a BRCA1 or BRCA2 mutation.

Douglas E. Levy, Ph.D., Instructor in Medicine, Harvard Medical School

Douglas E. Levy, Ph.D., Instructor in Medicine, Harvard Medical School; Researcher, Massachusetts General Hospital Institute For Health Policy

The objective of the investigation conducted by MGH and Dana-Farber was to identify women at high risk of hereditary breast and ovarian cancers and estimate their awareness of, and experience with, genetic testing for cancer risk. The analyses underlying the report relied upon the 2000 and 2005 National Health Interview Surveys. Approximately 35,000 women with no personal history of breast or ovarian cancer participated in the surveys.  The investigators determined the risk of hereditary breast and ovarian cancers based upon (i) self-reported family history of cancer and national guidelines; (ii) self-reported awareness of genetic testing for cancer risk; (iii) discussion of genetic testing for cancer risk with a health professional; and (iv) actual genetic testing for breast/ovarian cancer risk.

Based upon the guideline criteria, the investigators determined that approximately 1 percent of all women participating in the surveys were identified as being at high risk for  hereditary breast and ovarian cancers. Among these high-risk women, approximatey 54 percent were aware of genetic testing for cancer risk; 10 percent had discussed genetic testing with a health professional; and 1 percent had undergone testing for breast/ovarian cancer risk. The investigators concluded, based upon these results, that there was a low provision of guideline-recommended advice to women for whom genetic testing may be appropriate and of significant clinical benefit.

“A patient’s personal preferences are paramount in her decision to undergo genetic testing, but at the very minimum high-risk patients should have a discussion with their clinician.” Levy explains. “Although we didn’t examine factors that may impede these discussions, I believe that improvements won’t come until it becomes easier and more routine to collect, update and interpret family history information, which could come through the availability of decision support tools based on electronic medical records.”

“Right now we can stress that women should be aware of their family history of breast and ovarian cancer – on both sides of the family – communicate that information with their physicians and update it as necessary.” “Any woman concerned about her family history should not hesitate to raise the topic of testing with her physician,” adds Levy, who is an assistant professor of Medicine at Harvard Medical School. “In addition, organizations dedicated to cancer prevention and treatment should help disseminate the guidelines – which have been updated in recent years – particularly to primary care physicians.”

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