For example, a number of prior studies have demonstrated that women of black race are less likely to obtain genetic counseling than individuals of white race, but a recent study on women with newly diagnosed breast cancer actually found individuals of black race are more likely to obtain genetic counseling. 21, 22, 23, 24, 25, 26, 27 In fact, for any given covariate-such as race-studies have found evidence of both positive and negative associations. Conclusions from regional research have been mixed in regards to the impact of race, age, education, and insurance on the receipt of genetic counseling. Further, most previous studies have been confined to a single geographic region or health care system, limiting generalizability. 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22 Previous literature related to cancer genetic counseling has been narrow in scope, often focused on only one segment of the population-such as women, the affected, or a single inherited syndrome (HBOC). The literature on genetic testing is more robust, but this population may be distinct from those receiving genetic counseling. 9, 10, 11ĭespite the recommendation for genetic counseling, limited data exist regarding the geographic and sociodemographic distribution of cancer genetic counseling in the United States. Further, many insurance companies now require formal genetic counseling by a certified genetics provider prior to genetic testing. The US Preventive Services Task Force and the National Comprehensive Cancer Network recommend genetic counseling for cancer risk assessment in those meeting select personal and/or family history criteria, including diagnosis of breast or colorectal cancers at or under age 50, any diagnosis of ovarian cancer, or multiple affected relatives. Genetic counseling may involve but is a distinct process from, genetic testing. 8 This process often involves one or more visits with a genetic counselor (board certified allied health professional), specially trained nurse, or physician, and involves shared decision‐making between the patient and provider. Counseling to promote informed choices and adaptation to the risk or condition”. Education about inheritance, testing, management, prevention, resources, and research. The National Society of Genetic Counselors defines genetic counseling as integrating “Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence. Genetic counseling is critical to identify patients at risk for inherited cancer syndromes, facilitate genetic testing, and guide management decisions. Population carrier rates for these pathogenic variants are high, ranging from 1/40 to 1/400 for BRCA1/2 (depending on ethnic background) and 1/300 to 1/400 for Lynch syndrome.
1, 2, 3, 4 Common examples are hereditary breast and ovarian cancer syndrome (HBOC eg, BRCA1/2) and Lynch syndrome. The majority of individuals receiving genetic counseling reported they did so because their doctor recommended it (66%), with smaller proportions describing self (12%), family (10%), or media (5%) influences as the primary reason.Īt least 5%‐15% of cancer diagnoses in the United States are due to inherited cancer syndromes. Of those receiving genetic counseling focused on breast/ovarian cancer, 3% were male and 97% female (breast cancer alone‐4% male, 96% female) for colorectal cancer, 49% male and 51% female, and for “other” cancers, 60% male and 40% female. An estimated 2.1 million individuals have undergone genetic counseling focused on breast/ovarian cancer, 1.3 million on colorectal cancer, and 1.4 million on “other” cancers. Among the unaffected, female sex (OR: 1.70 ), non‐Hispanic black race (OR: 1.44, reference: non‐Hispanic white), graduate education (OR: 1.76, reference: less than high school), and age (OR: 1.06 ) predicted higher rates of genetic counseling.
After adjustment, however, only female sex (Odds Ratio : 1.78 ) remained a significant predictor of genetic counseling among the affected. On bivariate analysis, there were significant differences in proportions undergoing genetic counseling by sex, race/ethnicity, insurance, citizenship, education, age, and cancer status ( P < 0.01). An estimated 4.8 million individuals in the United States had cancer genetic counseling.