USPSTF, ASCO Issue More Guidance on Genetic Testing Based on Family History

Oncology Nursing NewsApril 2014
Volume 8
Issue 3

Oncology practitioners now have several resources to consult for advice on genetic testing for their patients following the US Preventive Services Task Force (USPSTF) December 2013 update of its 2005 BRCA recommendations, plus new recommendations from the American Socieity of Clinical Oncology (ASCO) announced in February and published in the Journal of Clinical Oncology.

Ellen T. Matloff, MS, CGC

Oncology practitioners now have several resources to consult for advice on genetic testing for their patients following the US Preventive Services Task Force (USPSTF) December 2013 update of its 2005 BRCA recommendations, plus new recommendations from the American Socieity of Clinical Oncology (ASCO) announced in February and published in the Journal of Clinical Oncology.

The USPSTF recommends that women whose family members have been diagnosed with breast, ovarian, tubal, or peritoneal cancers be screened to identify a family history that may be associated with an increased risk of potentially harmful mutations in BRCA1 or BRCA2.

Women with positive screening results are advised to undergo genetic testing, but only following genetic counseling. Further, women who lack a family history of an increased risk for BRCA mutations are specifically advised against genetic counseling or BRCA testing (Figure).1

The current task force recommendations are aimed at women previously undiagnosed with breast or ovarian cancer, but with a familial history. Ellen T. Matloff, MS, CGC, director of Cancer Genetic Counseling at the Yale Cancer Center in New Haven, Connecticut, believes that, “These prevention guidelines should include patients, male and female, who are cancer survivors and would like to prevent the development of a future primary cancer.”

Numerous studies have documented an increased risk of cancer among men with BRCA1/2 mutations. A study conducted among male breast cancer patients in Canada found a strong association between familial history (at least one first- or second-degree relative with breast cancer), BRCA2 mutation (2 of 14 pa - tients), and a previous history of other cancers prior to the breast cancer diagnosis,2 whereas another study of Ashkenazi men found an increased risk of prostate cancer in BRCA2 mutation carriers.3 A recent study recognized poor overall survival in BRCA2 mutationcarrying prostate cancer patients with multiple breast cancer relatives.4

Working in collaboration with the nonprofit organization Facing Our Risk of Cancer Empowered (FORCE), Matloff raised concerns and made suggestions to the USPSTF regarding the reach of the current guidelines. However, the task force responded that recommendations for cancer survivors, although important, would encompass disease management, which falls outside of the scope of their current recommendations.5

“The guidelines stress throughout that women should have genetic counseling and testing,” continued Matloff. “Unfortunately, this perpetuates a pervasive and dangerous myth in the patient, lay, and medical communities that a family history of breast and ovarian cancer somehow applies only to women.”

“A male who is a BRCA carrier may have daughters, granddaughters, and other female relatives at risk who can be helped by identifying the BRCA mutation in the family. We should not discriminate against males and should offer them the genetic counseling and testing services available to women.”

ASCO Recommendations

ASCO’s recommendations for hereditary risk assessment are the first to focus on family history—taking specifically in oncology to help determine patients’ personal genetic risk for cancer, the organization notes. The statement, developed by ASCO’s Genetics Subcommittee, is aimed at helping oncology providers to6:

  • Define a minimum cancer family history
  • Provide guidance regarding interpretation and next steps
  • Identify current barriers to accurate family history—taking and interpretation

For patients with cancer, ASCO recommends determining, at a minimum, whether there is any history of cancer in first- and second- degree relatives. First-degree relatives include parents, children, and full siblings. Second-degree relatives include grandparents, aunts/ uncles, nieces/nephews, grandchildren, and half-siblings. For each relative with cancer, ASCO recommends recording age at diagnosis and type of primary cancer(s).

Patients should be asked specifically if there is a known hereditary cancer predisposition syndrome, if there has been prior genetic testing, and for any information regarding ethnicmulity that may be relevant, since a lower threshold for testing could be warranted in some situations. ASCO further recommends that the family history be recorded at a patient’s initial visit to the oncology provider, and be reassessed if new information about family members diagnosed with cancer becomes available.

“Genetic factors are a key component of precision medicine because they can unlock important information that can help an oncologist determine the best course of individualized treatment,” said ASCO President Clifford A. Hudis, MD, FACP, in a press release an - nouncing the recommendations. “An adequate family history is key to identifying those patients whose cancer may be associated with inherited genetic factors.”

The ASCO guidelines mirror the importance placed on counseling by the USPSTF update. They recommend pre-and post-test counseling for the patient, and an open communication channel that provides detailed information to the patient to familiarize him or her with the process and the implications for both the patient and his or her relatives. The USPSTF update directs clinicians to use electronic data tools that can be directly used by the patient and can alleviate some of the physician workload.1

ASCO’s patient website has a variety of resources to assist in facilitating patient histories available at genetics, and the organization is planning to provide a comprehensive update of cancer genetics, including family history assessment, at its 2014 annual meeting in Chicago May 30-June 3.

Need for Board-Certified Counselors

The current recommendations stress the need for genetic counseling in women found to be at an increased risk of BRCA mutation. A study conducted at the Yale Cancer Center, with Matloff as the senior author, highlighted the negative outcomes of cancer genetic testing without a qualified counselor on board and identified the following patterns:

  • Wrong genetic test ordered
  • Misinterpreted test results
  • Inadequate genetic counseling

The study recommended education programs for healthcare providers in addition to an increased collaboration between the providers and genetic counselors.7 Matloff emphasized the importance of board-certified counselors: “Without accurate ordering, interpretation, and appropriate recommendations, these data are meaningless or harmful to the patient and the entire family.”

A panel discussion convened last year by The American Journal of Managed Care brought together genetic counselors, the chief medical officer of the American Cancer Society, and the national medical officer from Cigna.8 The panel members discussed the need for promoting awareness on the implications of testing, and also the increasingly important role played by genetic counselors in ordering the right tests and the accurate interpretation of results. The panel emphasized that the providers (both physicians and nurses) who consult with patients have limited genetic knowledge and that there is a rising need for board-certified genetic counselors. The consensus reached by the panel corroborates the current USPSTF recommendations.

Payers and BRCA Testing

Medicare recently announced that it will cut the reimbursement for BRCA1 and BRCA2 testing by 50% (down to $1440 in 2014 from $2795 in 2013).9 This is a result of new competition afforded to Myriad Genetics by other companies (eg, Quest Diagnostics, Ambry Genetics) that marketed their own tests. Most insurance companies cover the cost of genetic testing recommended by a healthcare provider.

Additionally, the Affordable Care Act mandates coverage for testing when recommended by a healthcare provider, as well as counseling to help decide a preventive course of medication to lower the risk of breast cancer.10 ASCO’s Hudis noted the organization’s concern that many insurers do not adequately reimburse for the time required to take a full cancer family history: “An increase in reimbursement for this service would help providers—many of whom are already timechallenged by the current fee-for-service reimbursement structure—devote the additional time needed to perform this important component of high-quality cancer care.”

Figure. Recommendations by the USPSTF based on familial history


  • Nelson HD, Fu R, Goddard K, et al. Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women: U.S. Preventive Services Task Force Recommendation Statement. Accessed March 3, 2014.
  • Wolpert N, Warner E, Seminsky MF, Futreal A, Narod SA. Prevalence of BRCA1 and BRCA2 mutations in male breast cancer patients in Canada. Clin Breast Cancer. 2000;1(1):57-63.
  • Kirchhoff T, Kauff ND, Mitra N, et al. BRCA mutations and risk of prostate cancer in Ashkenazi Jews. Clin Cancer Res. 2004;10(9):2918-2921.
  • Thorne H, Willems AJ, Niedermayr E, et al. Decreased prostate cancer-specific survival of men with BRCA2 mutations from multiple breast cancer families. Cancer Prev Res (Phila). 2011;4(7):1002- 1010.
  • FORCE. Updated Response to USPSTF Guidelines on BRCA Testing. current_action/USPSTF_draft_guidelines_hboc.php. Accessed February 4, 2014.
  • Lu KH, Wood ME, Daniels M, et al. American Society of Clinical Oncology Expert Statement: Collection and Use of a Cancer Family History for Oncology Providers. J Clin Oncol. 2014;32(8):833-840.
  • Brierley KL, Campfield D, Ducaine W, et al. Errors in delivery of cancer genetics services: implications for practice. Conn Med. 2010;74(7):413-423.
  • Beagin N. Genetic testing should come with counseling: American Cancer Society CMO, Supreme Court plaintiff among experts who warn of consumer risks. Am J Manag Care. 2013;19(suppl13):SP441-SP452.
  • McCarthy M. Medicare slashes payment for BRCA test. BMJ. 2013;347:f7709.
  • Susan G. Komen. Testing for BRCA1 and BRCA2 mutations. Accessed January 28, 2014.

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