Genetic Counseling and Testing Recommendations

Hereditary Breast and Ovarian Cancer (HBOC)

The United States Preventive Services Task Force (USPSTF) recommends that primary care providers screen women who have family members with breast, ovarian, tubal, or peritoneal cancer with one of five screening tools designed to identify a family history that may be associated with an increased risk for potentially harmful mutations in breast cancer susceptibility genes (BRCA1 or BRCA2).¹

The five tools are—

• The Ontario Family History Assessment Tool.²
• The Manchester Scoring System.³
• The Breast Cancer Genetics Referral Screening Tool (B-RST).⁴
• The Pedigree Assessment Tool.⁵
• The FHS-7.⁶

Each tool has limitations, and the USPSTF found insufficient evidence to recommend one tool over another, although they noted the B-RST and the FHS-7 are the simplest and quickest to administer. For more information about the pros and cons of each tool, visit the USPSTF recommendation.

Women with positive screening results should be offered genetic counseling and, if indicated after counseling, BRCA testing. These services should be provided by a health professional trained to provide this counseling and interpret genetic test results. The USPSTF recommends against routine genetic counseling or BRCA testing for women whose family history is not associated with an increased risk for potentially harmful mutations in the BRCA1 or BRCA2 genes.

Lynch Syndrome

National Comprehensive Cancer Network

As of 2015, the National Comprehensive Cancer Network (NCCN) recommends⁷ referring the following people for genetic counseling for Lynch syndrome—

• Women with endometrial cancer diagnosed before age 50.
• Individuals in families with known Lynch syndrome.

Use Amsterdam Criteria to identify patients at risk due to family health history. At least three relatives have been diagnosed with a cancer associated with Lynch syndrome (colorectal, endometrial, small bowel, ureter, renal-pelvis) and—

• One must be a first-degree relative of the other two.
• At least two successive generations must be affected.
• At least one relative with cancer associated with Lynch syndrome should be diagnosed before age 50.
• Familial adenomatous polyposis (FAP) should be excluded in the colorectal cancer cases, and reported family health history should be verified when possible.

American College of Medical Genetics and National Society of Genetic Counselors

As of 2015, the American College of Medical Genetics (ACMG) and National Society of Genetic Counselors (NSGC)⁸ recommend referral for genetic counseling for Lynch syndrome if the patient’s personal or family health history includes any of the following conditions—

• Colorectal or endometrial cancer diagnosed before age 50.
• Colorectal or endometrial cancer diagnosed at 50 or older and a first-degree relative with colorectal or endometrial cancer at any age.
• Synchronous or metachronous colorectal or endometrial cancers in the same person.
• Sebaceous adenoma or carcinoma and one or more additional case of any cancer associated with Lynch syndrome.
• Colorectal cancer showing mismatch repair deficiency on tumor screening.
• Three or more family members with cancer associated with Lynch syndrome.

References

¹United States Preventive Services Task Force (USPSTF). BRCA-Related Cancer: Risk Assessment, Genetic Counseling, and Genetic Testing.

²Gilpin CA, Carson N, Hunter AG. A preliminary validation of a family history assessment form to select women at risk for breast or ovarian cancer for referral to a genetics center. Clinical Genetics 2000;58:299–308.

³Evans DG, Eccles DM, Rahman N, Young K, Bulman M, Amir E, Shenton A, Howell A, Lalloo F. A new scoring system for the chances of identifying a BRCA 1/2 mutation outperforms existing models including BRCAPRO. Journal of Medical Genetics 2004;41:474–480.

⁴Bellcross CA, Lemke AA, Pape LS, Tess AL, Meisner LT. Evaluation of a breast/ovarian cancer genetics referral screening tool in a mammography population. Genetics in Medicine 2009;11(11):783–789.

⁵Hoskins KF, Zwaagstra A, Ranz M. Validation of a tool for identifying women at high risk for hereditary breast cancer in population-based screening. Cancer 2006;107(8):1769–1776.

⁶Ashton-Prolla P, Giacomazzi J, Schmidt AV, Roth FL, Palmero EI, Kalakun L, Aguiar ES, Moreira SM, Batassini E, Belo-Reyes V, Schuler-Faccini L, Giugliani R, Caleffi M, Camey SA. Development and validation of a simple questionnaire for the identification of hereditary breast cancer in primary care. BMC Cancer 2009;9:283.

⁷National Comprehensive Cancer Network. NCCN Guidelines: Genetic/Familial High-Risk Assessment: Colorectal [PDF-913KB] Note: Login required to access.

⁸Hampel H, Bennett RL, Buchanan A, Pearlman R, Wiesner GL; Guideline Development Group, American College of Medical Genetics and Genomics Professional Practice and Guidelines Committee and National Society of Genetic Counselors Practice Guidelines Committee. A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. Genetics in Medicine 2015;17(1):70–87.