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

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Changes to This Summary (05/16/2018)

The PDQ cancer information summaries are reviewed regularly and updated as new information becomes available. This section describes the latest changes made to this summary as of the date above.

Cancer Risk Assessment and Counseling

Revised text to state that the use of a patient navigator or an oncology clinic–based genetic counselor may increase utilization of genetic counseling services (cited Kentwell et al. as reference 24).

Components of the Risk Assessment Process

This section was comprehensively reviewed and extensively revised.

The Option of Genetic Testing

Added Genotyping for carrier status and disease risks as a new subsection.

Added Genotyping for founder pathogenic variants in BRCA1 and BRCA2as a new subsection.

Added text about a clinical lab that found that 40% of variants reported in direct-to-consumer (DTC) raw data were false positives (cited Tandy-Connor et al. as reference 66). In addition, several variants that were designated as “increased risk” in the raw data were classified as benign by clinical laboratories and public databases. Given the potential for misinterpretation, which may lead to unnecessary medical procedures or testing, these findings underscore the importance of clinical confirmation of all potentially medically actionable gene variants identified by DTC testing.

This summary is written and maintained by the PDQ Cancer Genetics Editorial Board, which is editorially independent of NCI. The summary reflects an independent review of the literature and does not represent a policy statement of NCI or NIH. More information about summary policies and the role of the PDQ Editorial Boards in maintaining the PDQ summaries can be found on the About This PDQ Summary and PDQ® - NCI's Comprehensive Cancer Database pages.

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