Questionnaire increased genetic counseling referrals for women at risk for BRCA mutations

Issue: March 25, 2009

SGO 40th Annual Meeting on Women’s Cancer

Patient questionnaires may help to increase genetic counseling referrals for women with ovarian cancer at risk for BRCA mutations. Using a questionnaire on new patient intake forms, researchers increased the number of genetic counseling referrals at the time of the patient's initial visit.

“Although no set of guidelines will identify every woman with a mutation, a patient history questionnaire such as ours can be used as a method to recognize risk, facilitate referral and educate patients as a routine part of care,” Catherine C. Burke, RN, APN-BC, MS,department of gynecologic oncology, The University of Texas M.D. Anderson Cancer Center, said at the Society for Gynecologic Oncologists’ 40th Annual Meeting on Women’s Cancer.

The SGO provides guidelines recommending genetic risk assessment for all women with >20% to 25% risk. The researchers used these recommendations to develop a risk assessment questionnaire consisting of six yes or no questions about personal and family history. They gathered data on 249 new patients with epithelial ovarian cancer seen during a seven-month period; 231 were evaluable.

One hundred-eighteen patients reported no high-risk factors and 93 answered “yes” to at least one question and were qualified as candidates for genetic testing. At the initial visit, 58% of patients were appropriately identified and referred.

Forty-nine percent of patients with one risk factor and 69% of those with two or more risk factors were referred for counseling.

“Our team will continue to refine the process by educating our clinic team, tracking the center’s ability to identify and refer high-risk women and providing specific feedback to individual faculty,” Burke said. “Equally important is the need to verify all positive patient responses as a routine part of taking the patient history.” – by Stacey L. Adams

This is a simple, yet important, quality improvement study that attempts to measure compliance in the gynecologic oncology community with our own guidelines for the referral of high-risk women for BRCA genetic risk assessment. There are ample data to support the current guidelines for identifying women at high risk for carrying a BRCA mutation, which have been recently summarized in the SGO position statement on risk assessment for inherited gynecologic and breast cancer predisposition in 2007. Women who meet these criteria, which include a combination of personal and family history of breast and/or ovarian cancer, age of diagnosis with cancer <50, Ashkenazi Jewish ancestry and a known deleterious BRCA mutation in a close relative, have an elevated risk of carrying a BRCA mutation, which merits genetic risk assessment. As advocates for women with cancer who aspire to raise awareness of hereditary gynecologic cancer syndromes in the larger medical community, it is imperative we evaluate our own adherence to these guidelines.

To date, there is very little available data on whether we actually practice what we preach. Studies in patients with breast cancer provide some insight into the physician-related obstacles in the appropriate referral of high-risk patients for genetic risk assessment. Some of these barriers include: lack of physician awareness, limited knowledge regarding the prevalence of mutations in more varied patient populations and our own bias in who we send for genetic testing. One large study of women with a family history of breast or ovarian cancer found significant racial and ethnic disparities in who was referred for genetic counseling and testing, irrespective of actual risks for harboring a BRCA mutation.

In this context, Burke et al have added some important information for us. By implementing a uniform risk assessment process among women with epithelial ovarian cancer in a population where 50% of patients received their care at M.D. Anderson and 50% were consultated, they found that only 58%, just short of their goal, of women actually were referred for genetic counseling compared with their baseline referral range of 46%.

This is clearly a very thoughtful analysis of the multiple barriers and processes in a very complex patient delivery care system. It's a prospective study design and they use a very simple, and I would argue, very easy-to-apply tool to assess the need for genetic risk assessment.

– Ilana Cass, MD

Associate Clinical Professor, Department of Obstetrics and Gynecology Member
UCLA’s Jonsson Comprehensive Cancer Center
Women's Cancers Program Area

For more information:

Burke CC. #35. Presented at: The Society for Gynecologic Oncologists’ 40th Annual Meeting on Women’s Cancer; Feb. 5-8, 2009; San Antonio.