Abstract
Despite efforts to increase the availability of clinical genetic testing and counseling for Hereditary Breast and Ovarian (HBOC)-related cancers, these services remain underutilized in clinical settings. There have been few efforts to understand the public’s use of cancer genetic services, particularly for HBOC-related cancers. This analysis is based on data from the 2015 National Health Interview Survey (NHIS), a U.S.-based nationwide probability sample, to better understand the public’s use of HBOC-related clinical cancer genetic services. Bivariate analyses were used to compute percentages and examine the associations of familial cancer risk for three genetic services outcomes (ever had genetic counseling for cancer risk, ever discussed genetic testing for cancer risk with a provider, and ever had genetic testing for cancer risk). Multivariable logistic regression models were used to estimate the association of familial cancer risk and other demographic and health variables with genetic services. Most women (87.67%) in this study were at low risk based on self-reported family history of breast and ovarian cancer, 10.65% were at medium risk, and 1.68% were at high risk. Overall, very small numbers of individuals had ever had genetic counseling (2.78%), discussed genetic testing with their physician (4.55%) or had genetic testing (1.64%). Across all genetic services outcomes, individuals who were at higher familial risk were more likely to have had genetic counseling than those at lower risk (high risk: aOR = 5.869, 95% CI = 2.911–11.835; medium risk: aOR = 4.121, 95% CI = 2.934–5.789), discussed genetic testing (high risk: aOR = 5.133, 95% CI = 2.699–9.764; medium risk: aOR = 3.649, 95% CI = 2.696–4.938), and completed genetic testing (high risk: aOR = 8.531, 95% CI = 3.666–19.851; medium risk aOR = 3.057, 95% CI = 1.835–5.094). Those who perceived themselves as being more likely to develop cancer than the average woman were more likely to engage in genetic counseling (aOR = 1.916, 95% CI = 1.334–2.752), discuss genetic testing (aOR = 3.314, 95% CI = 2.463–4.459) or have had genetic testing (aOR = 1.947, 95% CI = 1.13–3.54). Personal cancer history was also a significant predictor of likelihood to have engaged in genetic services. Our findings highlight: (1) potential under-utilization of cancer genetic services among high risk populations in the U.S. and (2) differences in genetic services use based on individual’s characteristics such as self-reported familial risk, personal history, and beliefs about risk of cancer. These results align with other studies which have noted that awareness and use of genetic services are low in the general population and likely not reaching individuals who could benefit most from screening for inherited cancers. Efforts to promote public awareness of familial cancer risk may lead to better uptake of cancer genetic services.
Highlights
Women who carry a BRCA1/2 pathogenic variant have substantially increased lifetime risks for breast and ovarian cancer compared to the general population [1]
Familial risk was ranked as (1) “low risk” which included individuals with no first degree relatives with a history of breast or ovarian cancers, (2) “medium risk” that included women with at least one first-degree relative diagnosed with breast cancer at ≥50 years of age, or (3) “high risk” that included at least one first-degree relative diagnosed with breast cancer under the age of 50 and/or any family history of ovarian cancer [37]
Were at medium risk, and 1.68% were at high risk of developing BRCA1/2-related cancers
Summary
Women who carry a BRCA1/2 pathogenic variant have substantially increased lifetime risks for breast and ovarian cancer compared to the general population [1]. Confirmation of true negatives could reduce unnecessary cancer screening and surgery [2,3,4,5]. In response to this evidence, several medical associations have put forth clinical practice guidelines to promote screening for hereditary breast and ovarian cancer (HBOC), and as appropriate, genetic counseling and testing [2,6,7,8,9,10,11]. Despite well-defined strategies for screening among individuals who are at increased risk for BRCA1/2-related cancers, cancer genetic services remain underutilized in clinical settings [12,13,14,15,16].
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