Disparities in Cancer Genetic Testing and Variants of Uncertain Significance in the Hispanic Population of South Texas

Abstract

PURPOSE: Racial and ethnic disparities have included a lack of access to both genetic testing and research, resulting in poor understanding of the genomic architecture in under-represented populations. The South Texas population is primarily of Hispanic background and has been largely devoid of genetic services. We extended access to this underserved population and uncovered genetic variants previously not observed, emphasizing the need to continually improve both genomic databases and clarification of variant significance to provide meaningful patient counseling. METHODS: This study consisted of a retrospective cohort review of patients seen through a cancer genetics education and service program across 24 counties in South Texas. In total, 1,595 individuals were identified as appropriate for cancer genetic counseling and 1,377 completed genetic testing. RESULTS: Eighty percent of those receiving genetic counseling self-identified as Hispanic, 16% as non-Hispanic White (NHW), 3% as African American, and 1% as other race/ethnicity. Of reported variants, 18.8% were pathogenic and 13.7% were reported as a variant of uncertain significance (VUS). VUS was reported in 17.2% of the Hispanic individuals compared with 9% NHW ( P = .005). CONCLUSION: Individuals of Hispanic ethnicity were significantly more likely to harbor a VUS compared with NHW. The extended reach into our regional communities revealed a gap in the ability to accurately interpret genomic variation with implications for advising patients on screening, prevention, and management strategies. A higher percentage of VUS also emphasizes the challenge of continued follow-up amid existing barriers that led to disparities in access. As understanding of the variants develops, hopefully gaps in knowledge of the genomic landscape will be lessened with increased clarity to provide accurate cancer risk assessment and recommendations for implementing prevention initiatives.

Assessing interventions promoting the uptake of cancer‐related genomic services within the Latino community: A scoping review using the RE‐AIM framework

“…Table 1 summarizes the descriptive characteristics of the included interventions ( n = 16). Most interventions took place within the US ( n = 13), 12 , 60 , 61 , 62 , 63 , 64 , 65 , 66 , 67 , 68 , 69 , 70 , 71 and the remaining interventions were conducted in Latin American countries, including Brazil ( n = 2) 72 , 73 and Mexico ( n = 1). 74 Of the 16 interventions included, 14 (87.5%) of the interventions were evidence‐based 12 , 60 , 62 , 63 , 64 , 65 , 66 , 67 , 68 , 69 , 71 , 72 , 73 , 74 and 2 (12.5%) interventions were not evidence‐based.…”

“…Most interventions took place within the US ( n = 13), 12 , 60 , 61 , 62 , 63 , 64 , 65 , 66 , 67 , 68 , 69 , 70 , 71 and the remaining interventions were conducted in Latin American countries, including Brazil ( n = 2) 72 , 73 and Mexico ( n = 1). 74 Of the 16 interventions included, 14 (87.5%) of the interventions were evidence‐based 12 , 60 , 62 , 63 , 64 , 65 , 66 , 67 , 68 , 69 , 71 , 72 , 73 , 74 and 2 (12.5%) interventions were not evidence‐based. 61 , 70 The most frequently hereditary cancer syndromes were hereditary breast and ovarian cancer ( n = 14, 77.8%), 12 , 60 , 61 , 63 , 64 , 65 , 66 , 67 , 69 , 70 , 71 , 72 , 73 , 74 Lynch syndrome ( n = 6, 37.5%) 61 , 64 ...…”

“…Eleven interventions (68.8%) reported the uptake rate of GC/education (range: 6%-95%). [61][62][63][64][65][66][67][68][69][70][71] Four additional interventions reported how many patients were eligible for GC/education; however, they did not report how many participants completed GC. 60,[72][73][74] Thirteen interventions (81.3%) reported the uptake rate of GT (uptake rate range: 4.6%-100%).…”

Piloting a Spanish-Language Web-Based Tool for Hereditary Cancer Genetic Testing

“…Prior studies have shown that the receipt of services through a translator among Spanish-preferring patients results in suboptimal care [ 22 ], including misinterpretation of information and less opportunity for shared decision making [ 23 , 24 ]. Specific areas that are particularly challenging are an explanation of VUS results, which are more common in H/L individuals undergoing genetic testing [ 25 ]. Data from our current study demonstrate enhanced understanding of content related to different types of test results.…”

Disparities in Cancer Care and Scientific Knowledge in Hispanic/Latinx People in the United States

“…The issue expands knowledge on focused topics such as disparities in cardio-oncology care as reviewed by Suero-Abreu et al 8 with potential solutions to improve care. Differences in genetic variants in the Hispanic/Latinx patient population were observed through the genetic counseling efforts of Soewito et al 9 In their editorial, Raez et al 10 outlined some of the ongoing challenges in genetic testing and treatment outcomes in patients with lung cancer. In addition, the importance of cancer care communication was a welcomed addition to the series by Ochoa et al, 11 with their focus on the young adult childhood cancer survivors, their parents, and health care teams.…”