Term or PhraseDefinition
BRCA-related cancerPredominantly breast, ovarian, fallopian tube, and peritoneal
Genetic counselingA service delivered by a qualified health professional that provides a comprehensive evaluation of familial risk for inherited disorders using kindred analysis and other methods, patient education, discussion of the benefits and harms of genetic testing, interpretation of results after testing, and discussion of management options
True negative testKnown confirmed deleterious genetic mutation in relatives, and none detected in the patient
Uninformative negative testNo known deleterious genetic mutations in relatives, and none detected in the patient
Variant of uncertain significanceAn abnormality of the BRCA1 or BRCA2 gene, but it is not known whether it is associated with an increased risk for cancer
Analytic validity*Technical test performance measured by analytic sensitivity and specificity, reliability, and assay robustness
Clinical validity*The test's ability to accurately and reliably predict the future disorder measured by clinical sensitivity and specificity, and predictive values of positive and negative tests that take into account the disorder prevalence
Clinical utility*Balance of benefits and harms when the test is used to influence patient management. For risk assessment, clinical utility is determined by improved health outcomes based on prevention or early detection strategies

Defined by the Centers for Disease Control and Prevention. Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group for tests of risk assessment/susceptibility. Genet Med. 2009;11:3–14. [PubMed: 18813139].

From: Appendix A, Referral Criteria and Definitions of Terms

Cover of Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer
Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: Systematic Review to Update the U.S. Preventive Services Task Force Recommendation [Internet].
Evidence Syntheses, No. 101.
Nelson HD, Fu R, Goddard K, et al.

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