Identifying Newly Diagnosed Individuals with Breast Cancer at Risk for Hereditary Breast Cancer

Multiple professional and societal guidelines emphasize the importance of genetic counseling and testing for individuals at risk for hereditary breast cancer.^1,2 For a woman newly diagnosed with breast cancer, information gained from genetic counseling and testing can directly impact her surgical management and treatment plan. Of the syndromes known to have an elevated risk of breast cancer, hereditary breast and ovarian cancer (HBOC) is the most common. HBOC is associated with mutations in the BRCA1 and BRCA2 genes. Women with a BRCA mutation have up to a 65% chance of developing a new primary breast cancer³ and often choose mastectomy with contralateral risk-reducing mastectomy over breast-conservation surgery.^4,5 According to the American Society of Breast Surgeons, in ideal circumstances patients who are at significant risk for harboring a BRCA mutation may undergo testing before de finitive surgery. ⁶ However, for a woman and her healthcare team to use genetic information, a woman has to be identified as at risk and undergo appropriate services in a timely manner. One method for identifying women at risk for BRCA mutations is an inexpensive, one-page flow chart.

A chart review of patients seen between May 1, 2007, and December 31, 2008, at Sarasota Memorial Health Care System’s (SMHCS) Genetic Ed - ucation Program revealed only two individuals were referred for genetic counseling at the time of surgical decision: one before definitive surgery and one after lump - ectomy and before radiation therapy. In addition, neither referral was internal. To increase the number of women offered genetic counseling and testing before definitive surgery, SMHCS implemented a quality-improvement initiative. Identification fo cused on women at risk for HBOC. The genetic counselor met with breast health (BH) clinicians, four oncology certified nurses, to determine the preferred medium for a risk assessment tool. A flow sheet, modeled off Medi care criteria for BRCA1/2 testing, was designed to capture women with personal and family histories suggestive of HBOC. BH clinicians used the tool during intakes for all individuals presenting for biopsy, and information was recorded. For individuals returning to the BH center with positive results, a BH clinician introduced genetics. Fact sheets for interested clients were faxed to the genetic counselor for an appointment.

Between January 1, 2009, and De cember 31, 2009, 99.6% (229/230) of newly diagnosed individuals seen at the BH center were screened for features of HBOC. Approximately one fourth (53/229) were identified as being at risk for BRCA mutations. This is consistent with data obtained at major academic medical centers.7 BH clinicians were involved in positive biopsy disclosure for 23 (43.4%) at-risk individuals. Of the 19 (82.6%) individuals referred for genetic counseling, the genetic counselor spoke with and offered services to 15 individuals: seven proceeded with genetic counseling before definitive surgery, one after treatment was complete, three were uninsured and could not afford the cost, and four were not interested. Regarding the at-risk individuals who did not receive positive results from BH clinicians, as of July 1, 2010, 23% (7/30) had been referred for genetic counseling. How ever, none were referred before definitive surgery. A chart review is planned to determine if any at-risk individuals underwent inoffice genetic testing.

By creating a flow chart and providing minimal training to BH clinicians, SMHCS was able to increase the number of women speaking to a genetic counselor before definitive surgery from one to 15. Although this is greater than a 1000% increase, it is less than ideal. The National Com prehensive Cancer Network guidelines clearly state “a genetic counselor or medical geneticist should be involved early in counseling patients who potentially meet criteria for an inherited syndrome.”8 The process failed to account for the 30 at-risk individuals who would not receive positive biopsy results from BH clinicians. In addition, as of July 1, 2010, only 17 of 53 at-risk individuals had undergone a genetic counseling consult at SMHCS. Identifying individuals at risk for hereditary breast cancer requires a multidisciplinary team approach. The mechanism used depends on the needs and resources of the institution. To ensure all at-risk individuals are offered genetic services, hospitals need to evaluate their current method of identification and consider collaboration with local genetic professionals and/or companies providing phone genetic counseling.

References

1. Lu K, Kauff N, Powell B, et al; for American College of Obstetricians and Gynecologists; ACOG Committee on Practice Bulletins—Gynecology; ACOG Committee on Genetics; and Society of Gynecologic Oncologists. ACOG practice bulletin No. 103: hereditary breast and ovarian cancer syndrome. Obstet Gynecol. 2009;113: 957-966.
2. Khatcheressian JL, Wolff AC, Smith TJ, et al; for the American Society of Clinical Oncology. American Society of Clinical Oncology 2006 update of the breast cancer follow-up and management guidelines in the adjuvant setting. J Clin Oncol. 2006;24:5091-5097.
3. Antoniou A, Pharoah PDP, Narod S, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet. 2003;72:1117-1130.
4. Stolier AJ, Fuhrman GM, Mauterer L, et al. Initial experience with surgical treatment planning in the newly diagnosed breast cancer patient at high risk for BRCA-1 or BRCA-2 mutation. Breast J. 2004;10:475-480.
5. Schwartz MD, Lerman C, Brogan B, et al. Impact of BRCA1/BRCA2 counseling and testing on newly diagnosed breast cancer patients. J Clin Oncol. 2004;22: 1823-1829.
6. American Society of Breast Surgeons Official Statement. BRCA genetic testing for patients with and without breast cancer. June 12, 2006. www.breastsurgeons.org/statements/PDF_Statements/BRCA_Testing.pdf. Accessed July 1, 2010. Shannon KM, Lubratovich ML, Finkelstein DM, et al. Model-based predictions of BRCA1/2 mutation status in breast carcinoma patients treated at an academic medical center. Cancer. 2002;94:305-313.
7. National Comprehensive Cancer Network. Clinical Practice Guidelines in Oncology: Genetic/Familial High-Risk Assessment: Breast and Ovarian. V.1.2010. www.nccn.org/professionals/physician_gls/PDF/genetics_screening.pdf. Accessed July 1, 2010.