Cancer Genetics Risk Assessment and Counseling (PDQ®)–Health Professional Version

Identification of Candidates for Referral to Genetic Counseling

After an individual’s personal and family cancer histories have been collected, several factors could warrant referral to a genetics professional for evaluation of hereditary cancer susceptibility syndromes. The American College of Medical Genetics and Genomics and the National Society of Genetic Counselors have published a comprehensive set of personal and family history criteria to guide the identification of at-risk individuals and appropriate referral for cancer genetic risk consultation.[1] These practice guidelines take into account tumor types or other features and related criteria that would indicate a need for a genetics referral. The authors state that the guidelines are intended to maximize appropriate referral of at-risk individuals for cancer genetic consultation but are not meant to provide genetic testing or treatment recommendations.

Tools to Identify Candidates for Genetic Counseling and Genetic Testing

Identification of patients at moderate to high risk of hereditary cancer for genetic services is recommended by all major societies. Primary care physicians have a number of tools available to triage patients. In addition to the published categorical guidelines available through professional organizations,[1-4] there are also red flag cards, paper-based checklists, and patient-directed online referral tools. Table 1 provides a list of several publically available resources that can be used to identify patients for referral to genetic services. Although most tools are brief and simple enough for patients to complete on their own, either previsit, online, or in the waiting room, clinical review is warranted. Many include the commonly known features suggestive of hereditary cancers, but exclusions are noted in the table below.

Table 1. Available Tools to Identify Candidates for Referral to Genetics for Further Evaluation and Consideration of Genetic Testing

ENLARGE

Name	Mode and Length (Referral Threshold)	Sensitivity/Specificityand Validation	Tool Completed By (Tested Setting)	Featuresa
aAll tools are available in English. Tools were tested in U.S. populations unless otherwise stated.
bReferral yield in test population.
Breast/Ovarian Cancer Tools for Health Professionals
Breast cancer referral screeningtool (B-RST)[5]	• Paper/Online Exit Disclaimer	Sensitivity 81%/Specificity 92%	Health professional (mammography clinic)	Does not include bilateral breast cancer or breast and ovarian cancer in the same person. 6% high riskb.
Breast cancer referral screeningtool (B-RST)[5]	• 2-column table (2 positive answers)	Validated in other populations [6,7]	Health professional (mammography clinic)
Family health screening questionnaire[8]	• Paper	Sensitivity 95%/Specificity 54%	Health professional (primary care)	Tested in Australia. Does not include bilateral breast cancer or breast and ovarian cancer in the same person.
Family health screening questionnaire[8]	• 9 questions (1 positive answer)	Sensitivity 95%/Specificity 54%	Health professional (primary care)
Family history assessment tool (FHAT)[9]	• Paper	Not provided	Health professional (primary care)	Tested in Canada. Includes colon and prostate cancers. Includes third-degree relatives.
Family history assessment tool (FHAT)[9]	• 12 questions (>10 points for family score)	Not provided	Health professional (primary care)
FHS-7 [10]	• Paper	Sensitivity 87%/Specificity 54%	Health professional (primary care)	Tested in community-based population in Brazil. 6% high riskb.
FHS-7 [10]	• 7 questions (1 positive answer)	Sensitivity 87%/Specificity 54%	Health professional (primary care)
Pedigreeassessment tool (PAT) [11]	• Paper	Sensitivity 100%/Specificity 93%	Health professional (primary care)	Tested in community hospital.
Pedigreeassessment tool (PAT) [11]	• 5 items (≥8 points)	Validated in other populations [12]	Health professional (primary care)	Tested in community hospital.
Breast/Ovarian Cancer Tools for Patients
“Are you at risk for hereditary breast cancer?” educational brochure [13]	• Paper	Not provided	Patient (breast and cervical cancer screening clinic)	Tested in underinsured or uninsured low-income women.
	• 11 questions (1 positive answer)	Not provided	Patient (breast and cervical cancer screening clinic)	Tested in underinsured or uninsured low-income women.
Family history questionnaire[14]	• Paper	Not provided	Patient (mammography clinic)	Tested in Australia. Does not include ovarian cancer, male breast cancer, or bilateral breast cancer. 13% high riskb.
Family history questionnaire[14]	• 6 questions (about 3 positive answers)	Not provided	Patient (mammography clinic)
6-point scale[15]	• Paper	Sensitivity 27%/Specificity 97%	Patient (mammography clinic)	Tested in low-income women in a safety net setting.
6-point scale[15]	• 10 questions (≥6 points)	Sensitivity 27%/Specificity 97%	Patient (mammography clinic)	Tested in low-income women in a safety net setting.
Colon Cancer Tools
FHS-7 [10]	• Paper	Sensitivity 87%/Specificity 54%	Health professional (primary care)	Tested in community-based population in Brazil. 6% high riskb.
FHS-7 [10]	• 7 questions (1 positive answer)	Sensitivity 87%/Specificity 54%	Health professional (primary care)
Lynch syndrome risk assessmenttool [16]	• Paper	Not provided	Patient (colonoscopy clinic)	3% high riskb.
Lynch syndrome risk assessmenttool [16]	• 7 questions (1 positive answer)	Not provided	Patient (colonoscopy clinic)	3% high riskb.

There are also more extensive statistical risk assessment models designed for both highly motivated patients [17,18] and genetic specialists (e.g., CancerGene , IBIS ).

References

Hampel H, Bennett RL, Buchanan A, et al.: 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. Genet Med 17 (1): 70-87, 2015. [PUBMED Abstract]
National Comprehensive Cancer Network: NCCN Clinical Practice Guidelines in Oncology: Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 3.2019. Plymouth Meeting, Pa: National Comprehensive Cancer Network, 2019. Available online with free registration.Exit Disclaimer Last accessed June 20, 2019.
National Comprehensive Cancer Network: NCCN Clinical Practice Guidelines in Oncology: Genetic/Familial High-Risk Assessment: Colorectal. Version 1.2019. Plymouth Meeting, PA: National Comprehensive Cancer Network, 2019. Available online with free registration.Exit Disclaimer Last accessed July 19, 2019.
Lancaster JM, Powell CB, Chen LM, et al.: Society of Gynecologic Oncology statement on risk assessment for inherited gynecologic cancer predispositions. Gynecol Oncol 136 (1): 3-7, 2015. [PUBMED Abstract]
Bellcross CA, Lemke AA, Pape LS, et al.: Evaluation of a breast/ovarian cancer genetics referral screening tool in a mammography population. Genet Med 11 (11): 783-9, 2009. [PUBMED Abstract]
Bellcross C: Further development and evaluation of a breast/ovarian cancer genetics referral screening tool. Genet Med 12 (4): 240, 2010. [PUBMED Abstract]
Brannon Traxler L, Martin ML, Kerber AS, et al.: Implementing a screening tool for identifying patients at risk for hereditary breast and ovarian cancer: a statewide initiative. Ann Surg Oncol 21 (10): 3342-7, 2014. [PUBMED Abstract]
Emery JD, Reid G, Prevost AT, et al.: Development and validation of a family history screening questionnaire in Australian primary care. Ann Fam Med 12 (3): 241-9, 2014 May-Jun. [PUBMED Abstract]
Gilpin 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. Clin Genet 58 (4): 299-308, 2000. [PUBMED Abstract]
Ashton-Prolla P, Giacomazzi J, Schmidt AV, et al.: Development and validation of a simple questionnaire for the identification of hereditary breast cancer in primary care. BMC Cancer 9: 283, 2009. [PUBMED Abstract]
Hoskins KF, Zwaagstra A, Ranz M: Validation of a tool for identifying women at high risk for hereditary breast cancer in population-based screening. Cancer 107 (8): 1769-76, 2006. [PUBMED Abstract]
Teller P, Hoskins KF, Zwaagstra A, et al.: Validation of the pedigree assessment tool (PAT) in families with BRCA1 and BRCA2 mutations. Ann Surg Oncol 17 (1): 240-6, 2010. [PUBMED Abstract]
Cohn WF, Jones SM, Miesfeldt S: "Are you at risk for hereditary breast cancer?": development of a personal risk assessment tool for hereditary breast and ovarian cancer. J Genet Couns 17 (1): 64-78, 2008. [PUBMED Abstract]
Fisher TJ, Kirk J, Hopper JL, et al.: A simple tool for identifying unaffected women at a moderately increased or potentially high risk of breast cancer based on their family history. Breast 12 (2): 120-7, 2003. [PUBMED Abstract]
Stewart SL, Kaplan CP, Lee R, et al.: Validation of an Efficient Screening Tool to Identify Low-Income Women at High Risk for Hereditary Breast Cancer. Public Health Genomics 19 (6): 342-351, 2016. [PUBMED Abstract]
Rabinowitz-Abrams D, Morgan D, Morse J, et al.: Building a tool to identify risk for Lynch syndrome among individuals presenting for screening colonoscopy. J Genet Couns 19 (4): 353-9, 2010. [PUBMED Abstract]
Sweet K, Sturm AC, Rettig A, et al.: Clinically relevant lessons from Family HealthLink: a cancer and coronary heart disease familial risk assessment tool. Genet Med 17 (6): 493-500, 2015. [PUBMED Abstract]
Baumgart LA, Postula KJ, Knaus WA: Initial clinical validation of Health Heritage, a patient-facing tool for personal and family history collection and cancer risk assessment. Fam Cancer 15 (2): 331-9, 2016. [PUBMED Abstract]