Putting Prevention into Practice: Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women - American Family Physician

Putting Prevention into Practice: Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women - American Family Physician

Putting Prevention into Practice

AN EVIDENCE-BASED APPROACH

Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women

KAREN LEE, MD, MPH, Medical Officer, U.S. Preventive Services Task Force Program, Agency for Healthcare Research and Quality

CARLO ROSSI, MDCM, Preventive Medicine Resident, Uniformed Services University of the Health Sciences

Am Fam Physician. 2015 Jan 15;91(2):119-120.

  Related U.S. Preventive Services Task Force: Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women: Recommendation Statement

This clinical content conforms to AAFP criteria for continuing medical education (CME). See the CME Quiz Questions.

Author disclosure: No relevant financial affiliations.

Case Study

L.M. is a 37-year-old nonsmoking woman who is not taking any medications and has no significant past medical problems. Three of her female relatives have a history of breast cancer: her mother (diagnosed at 49 years of age, before menopause), her paternal grandmother (diagnosed at 72 years of age), and her maternal aunt (recently diagnosed at 39 years of age). L.M. is concerned that breast cancer runs in her family, and is interested in genetic testing for breast cancer.

Case Study Questions

1. Based on the recommendations of the U.S. Preventive Services Task Force (USPSTF), which one of the following is the most appropriate initial clinical approach for this patient?
   • A. Genetic testing for breast cancer is recommended only for women in specific ethnic groups in which certain gene mutations may be more common.
   • B. Blood tests that detect breast cancer gene mutations are available, but there is insufficient evidence to recommend their use.
   • C. L.M. does not require genetic testing because of her age and lack of symptoms.
   • D. L.M.'s family history may be associated with an increased risk of BRCA mutations, and warrants further risk assessment.
2. After further discussion, L.M. agrees that she is a candidate for further risk assessment. Which one of the following best applies to L.M.'s situation?
   • A. Genetic counseling is not needed before genetic testing because of her family history of breast cancer.
   • B. Offer routine genetic testing, regardless of her family history.
   • C. Use the National Cancer Institute Breast Cancer Risk Assessment Tool to determine if she would benefit from further risk assessment.
   • D. Initial genetic testing should begin with a family member with confirmed breast or ovarian cancer, if available.
3. L.M. completes

SOURCES

U.S. Preventive Services Task Force. Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement. Ann Intern Med. 2014;160(4):271–281.

Nelson HD, Pappas M, Zakher B, Mitchell JP, Okinaka-Hu L, Fu R. Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: a systematic review to update the U.S. Preventive Services Task Force recommendation. Ann Intern Med. 2014;160(4):255–266.

This PPIP quiz is based on the recommendations of the USPSTF. More information is available in the USPSTF Recommendation Statement and the supporting documents on the USPSTF website (http://www.uspreventiveservicestaskforce.org). The practice recommendations in this activity are available at http://www.uspreventiveservicestaskforce.org/Page/Topic/recommendation-summary/brca-related-cancer-risk-assessment-genetic-counseling-and-genetic-testing.

This series is coordinated by Sumi Sexton, MD, Associate Medical Editor.

A collection of Putting Prevention into Practice published in AFP is available athttp://www.aafp.org/afp/ppip.