Genetic counseling among minority populations in the era of precision medicine.

Precision medicine includes the use of genetic variation to determine the prevention, pathology, management, and treatment of disease, which has the potential to significantly change the practice of healthcare. As such, its success depends on (a) having reliable information about the effects of genetic variation on disease processes; and (b) the patient's understanding of their own genetic makeup such that they can use that information to affect their lifestyle and diet. Given the history of low engagement of under-represented minority populations in both clinical genetic services and genetic research, both of these aspects will be challenged and must be addressed before the benefits of precision medicine will be fully realized. Reflecting on lessons learned in the field of cancer genetic counseling, we present key issues to consider as we look forward to providing genetic counseling to minority communities in the context of precision medicine.

Prior experiences of racial discrimination and racial differences in health care system distrust.

PURPOSE: Factors contributing to racial differences in health care system distrust (HCSD) are currently unknown. Proposed potential contributing factors are prior experiences of racial discrimination and racial residential segregation. METHODS: Random digit dialing survey of 762 African American and 1267 white adults living in 40 US metropolitan statistical areas. Measures included the Revised Health Care System Distrust scale, the Experiences of Discrimination scale, metrics of access to care, sociodemographic characteristics, and the level of racial residential segregation in the city (using the isolation index). RESULTS: In unadjusted analyses, African Americans had higher levels of HCSD, particularly values distrust, and greater experiences of discrimination. Experience of discrimination was also strongly associated with HCSD. Adjusting for sociodemographic characteristics, health care access, and residential segregation had little effect on the association between African American race and overall HCSD or values distrust. In contrast, adjusting for experiences of racial discrimination reversed the association so that distrust was lower among African Americans than whites (odds ratio 0.53; 95% confidence interval, 0.33-0.85 for the overall measure). The Sobel test for mediation was strongly significant (P<0.001). CONCLUSIONS: Higher HCSD among African Americans is explained by a greater burden of experiences of racial discrimination than whites. Reasons for higher distrust among whites after adjusting for experiences of racial discrimination are not known. Efforts to eliminate racial discrimination and restore trust given prior discrimination are needed.

Primary Care Provider and Patient Perspectives on Lung Cancer Screening. A Qualitative Study.

RATIONALE: The U.S. Preventive Services Task Force recommends annual low-dose computed tomography (LDCT) for lung cancer screening in high-risk individuals. Preventive healthcare is provided predominantly by primary care providers (PCPs). Successful implementation of a screening program requires acceptance and participation by both providers and patients, with available collaboration with pulmonologists. OBJECTIVES: To identify perceptions of and perspectives on lung cancer screening and implementation among PCPs and eligible veteran patients at high risk for lung cancer. METHODS: We conducted a qualitative study using grounded theory in which 28 veterans and 13 PCPs completed a questionnaire and participated in focus groups. Sessions were recorded, transcribed verbatim, and analyzed with NVivo 10 software. Counts and percentages were used to report questionnaire results. MEASUREMENTS AND MAIN RESULTS: While 58% percent of providers were aware of lung cancer screening guidelines, many could not recall the exact patient eligibility criteria. Most patients were willing to undergo LDCT screening and identified smoking as a risk factor for lung cancer, but they did not recall their PCP explaining the reason for the testing. All providers assessed smoking behavior, but only 23% referred active smokers for formal cessation services. Patients volunteered information regarding their hurdles with smoking cessation while discussing risk factors for cancer. PCPs cited time constraints as a reason for lack of appropriate counseling and shared decision making. Both parties were willing to explore modalities and decision aid tools to improve shared decision making; however, while patients were interested in individual risk prediction, few PCPs believed statistical approaches to counseling would confuse patients. CONCLUSIONS: While patients and providers are receptive to LDCT screening, efforts are needed to improve guideline knowledge and adherence among providers. System-level interventions are necessary to facilitate time and resources for shared decision making and smoking cessation counseling and treatment. Further research is needed to identify optimal strategies for effective lung cancer screening in the community.

Racial differences in quality of life following prostate cancer diagnosis.

OBJECTIVES: To evaluate the effects of race on QOL while adjusting for subjective stress and religiosity among African American and white prostate cancer patients. Although racial differences in quality of life (QOL) have been examined between African American and white prostate cancer patients, it is not known whether differences exist while adjusting for psychological and cultural factors. We predicted that African American men would report poorer emotional and physical functioning after adjusting for these factors and that greater subjective stress and lower levels of religiosity would be associated with poorer well-being. METHODS: We conducted an observational study of QOL among 194 African American and white men who were recruited from February 2003 through March 2008. RESULTS: Race had a significant effect on emotional functioning after adjusting for perceptions of stress and religiosity. Compared with white men, African American men (P = .03) reported significantly greater emotional well-being. Greater subjective stress was associated significantly with poorer emotional functioning (P = .0001) and physical well-being (P = .0001). There were no racial differences in physical functioning (P = .76). CONCLUSIONS: The results of this study highlight the importance of developing a better understanding of the context within which racial differences in QOL occur and translating this information into support programs for prostate cancer survivors.

Predictors and outcomes of contralateral prophylactic mastectomy among breast cancer survivors.

BACKGROUND: Women affected with breast cancer who carry a BRCA1 or BRCA2 (BRCA1/2) mutation are at risk of developing contralateral breast cancer. To reduce the risk of contralateral breast cancer, some patients opt for prophylactic surgery of the unaffected breast (contralateral prophylactic mastectomy, CPM) in addition to mastectomy of the affected breast. METHODS: We conducted the present study to determine the predictors and outcomes of CPM in the year following BRCA1/2 genetic counseling and testing. Four hundred and thirty-five women affected with unilateral breast cancer who received positive or uninformative BRCA1/2 genetic test results completed assessments prior to genetic counseling and testing and 1, 6, and 12 months after receipt of results. RESULTS: Prior to testing, 16% had undergone CPM (in conjunction with mastectomy of the affected breast). In the year following testing, 18% with positive test results and 3% with uninformative test results opted for CPM. CPM following testing was associated with a positive genetic test result, younger age at cancer diagnosis [odds ratio (OR) = 0.94], and higher cancer-specific distress at baseline (OR = 3.28). CPM was not associated with distress outcomes at 12 months. CONCLUSIONS: Following a positive test result, 18% of women previously affected with unilateral breast cancer had a CPM. Women affected with breast cancer at a younger age, particularly those with positive genetic test results and higher cancer-specific distress, are more likely to choose CPM than women who receive uninformative test results and who are less distressed and older at diagnosis. CPM does not appear to impact distress outcomes.