Table 2.

Examples of Risk Categories to Aid in Simplification of Pretest Counseling in the Case of Multigene Testing.

Patient Concern	High-Penetrance Genes	Moderate-Penetrance Genes	Limited Data/Low-Risk Genes
Cancer risk	High cancer risks, likely explains cancer in family	Moderate cancer risks, may explain cancer in family	Unknown cancer risk, may explain cancer in the family
Medical-management options	Many options, which may include increased screening, preventative surgery, and chemopreventiona	Options generally involve increased screening beginning at younger ages	Established guidelines not yet available; clinician will make recommendations based on current data and the patient’s personal and family medical history
Implications for family members	Recommend testing to all blood relatives. Negative results are considered “true negative” results	Family members should consider genetic testing; family members with negative results may still have increased risk of cancer based on the family history	Unknown implications for family members

^aIt is important to discuss limitations in cancer screening and prevention. It is not possible to effectively screen for all cancer risks conferred by a high-penetrance gene. For example, TP53 mutations cause risk of many cancer types, and screening options are of unknown efficacy.