Latina immigrants' breast and colon cancer causal attributions: genetics is key.

Latinos in the US suffer health disparities including stage of disease at time of breast or colon cancer diagnosis. Understanding Latinas' causal attributions of breast and colon cancer may provide insight into some of the individual level determinants of cancer disparities in this population. Cultural consensus analysis (CCA) is one way to study causal beliefs. The objective of this study was to describe Latina immigrants' causal attributions of breast and colon cancer. We conducted Spanish-language interviews with 22 Latina immigrants using a qualitative exploratory design comprised of freelisting, ranking, and open-ended questions. Participants freelisted causes and risk factors for breast and colon cancer then ranked risk factors according to their perceived role in the development of each cancer. CCA was conducted on rank orders to identify whether a cultural consensus model was present. Participants answered semi-structured, open-ended questions regarding the risk factors and rankings. Interviews were transcribed and subjected to thematic analysis. CCA showed no consensus around rank of causes for either cancer, and residual agreement analysis suggested the presence of two subcultural groups. "Genetics" and "hereditary factors" ranked first and second on average across participants for both cancers. Based on interview data, participants were less aware of colon cancer than breast cancer. Participants' endorsement of heredity as a cause of breast and colon cancer was similar to beliefs reported in studies of primarily non-Latina populations.

Cultural adaptations to a telephone genetic counseling protocol and booklet for Latina breast cancer survivors at risk for hereditary breast and ovarian cancer.

Telephone genetic counseling (TGC) is accepted as standard clinical care for people seeking hereditary cancer risk assessment. TGC has been shown to be non-inferior to in-person genetic counseling, but trials have been conducted with a predominantly highly educated, non-Hispanic White population. This article describes the process of culturally adapting a TGC protocol and visual aid booklet for Spanish-preferring Latina breast cancer survivors at risk for hereditary breast and ovarian cancers. The adaptation process included two phases. Phase 1 involved a review of the literature and recommendations from an expert team including community partners. Phase 2 included interviews and a pilot with the target population (n = 14) to collect feedback about the adapted protocol and booklet following steps from the Learner Verification and Revision Framework. We describe the adaptation process and report the main adaptations following the Framework for Reporting Adaptations and Modifications to Evidence-based Interventions (FRAME). Adaptations in Phase 1 were responsive to the target population needs and characteristics (e.g., delivered in Spanish at an appropriate health literacy level, addressing knowledge gaps, targeting cultural values). Phase 2 interviews were crucial to refine details (e.g., selecting words) and to add components to address GCT barriers (e.g., saliva sample video). Cultural adaptations to evidence-based TGC protocols can increase the fit and quality of care for historically underserved populations. As TGC visits become routine in clinical care, it is crucial to consider the needs of diverse communities to adequately promote equity and justice in cancer care.

This article describes the process of adapting a telephone genetic counseling protocol and visual aid booklet for Spanish-preferring Latina breast cancer survivors at increased risk for hereditary breast and ovarian cancer (HBOC). The cultural adaptation process followed two phases. In the first phase, the authors reviewed the literature and obtained insights from interdisciplinary experts. In the second phase, the authors received iterative feedback from fourteen Latina women who were breast cancer survivors, spoke Spanish as a first language, and met criteria to be considered at increased risk for HBOC. Revisions to the protocol and visual aid booklet were conducted iteratively following feedback from the expert team, after the first five women reviewed the booklet, after the second five women reviewed the booklet, and after the final four women completed the entire culturally adapted telephone genetic counseling protocol with the booklet. The final adaptations to the protocol and visual aid booklet were responsive to the target population's needs. Most adaptations made were regarding content. For example, simplifying the material presented, adding culturally relevant images, and developing a video explaining how to collect a saliva sample. Culturally adapting health interventions can improve health outcomes in historically marginalized populations and promote equity.

Olaparib Use in Patients With Metastatic Breast Cancer Harboring Somatic BRCA1/2 Mutations or Mutations in Non-BRCA1/2, DNA Damage Repair Genes.

BACKGROUND: Poly-ADP ribose polymerase (PARP) inhibitors (PARPi) are active in patients with germline BRCA1/2 (gBRCA1/2)-mutated breast cancer, accounting for 5% to 10% of all breast cancers. Another 5% to 10% harbor somatic BRCA1/2 (sBRCA1/2) mutations or mutations in non-BRCA1/2, homologous recombination repair (HRR) genes but until recently, there were no data for the use of PARPi in these patients. This study examines the use of olaparib in patients with metastatic breast cancer harboring sBRCA1/2 or germline or somatic non-BRCA1/2, HRR mutations and demonstrates potential activity of PARPi in this setting. METHODS: In this retrospective, single institution study, patients who were treated with off-label, off-protocol olaparib for metastatic breast cancer harboring sBRCA1/2 or germline or somatic non-BRCA1/2, HRR mutations were identified. The primary aim was to describe these patients' demographics, tumor characteristics, mutations, safety and tolerability, response rates, progression free survival, PARPi-associated survival and subsequent treatment. RESULTS: Seven patients were treated off-label, off-trial with olaparib for sBRCA1/2-mutated cancers (n = 4) or non-BRCA1/2, HRR-mutated cancers (n = 3). All patients with sBRCA1/2-mutated cancers responded to PARP inhibition; patients with non-BRCA1/2, HRR-mutated cancers did not respond. The median progression free survival in patients with a sBRCA1/2 mutation was 6.5 months (range 5-9 months) vs. 3 months (range 2-4 months) in patients with non-BRCA1/2, HRR mutations. CONCLUSION: This single institution experience adds to recent larger reports confirming evidence for PARPi therapy in patients with metastatic breast cancer harboring sBRCA1/2 mutations. No activity was observed in patients with either germline or somatic non-BRCA1/2, HRR-mutated cancers.

Development and pilot testing of a training for bilingual community education professionals about hereditary breast and ovarian cancer among Latinas: ÁRBOLES Familiares.

Cancer health disparities remain a significant problem in the USA, compounded by lack of access to care, language barriers and systemic biases in health care. These disparities are particularly evident in areas such as genetics/genomics. For example, Latinas at high risk for hereditary breast and ovarian cancer (HBOC) have extremely low rates of genetic counseling/testing. Long-standing barriers and inequities in access to services such as genetic counseling and testing require innovative solutions. One solution can involve training community outreach and education professionals (CORE-Ps) to bridge the gap between underserved communities and genetic specialists. We sought to develop and pilot test a training program for English-Spanish bilingual CORE-Ps to reduce disparities in access to and uptake of genetic services among Latino populations. Guided by Adult Learning Theory and with input from multiple stakeholders, we developed ÁRBOLES Familiares (Family Trees), an in-person and online training program for bilingual CORE-Ps to facilitate identification, referral, and navigation of Latinas to genetic counseling/testing. We conducted a pilot test of 24 CORE-Ps recruited from across the United States and assessed knowledge, genetic literacy, and self-efficacy at baseline and follow-up. At follow-up, participants in the pilot with complete baseline and follow-up data (N = 15) demonstrated significant improvements in HBOC knowledge, genetic literacy, self-efficacy and reports of fewer barriers to identify/navigate Latinas (ps < .05). Qualitative assessment identified ways to improve the training curriculum. Pilot results suggest ÁRBOLES is a promising approach for training CORE-Ps to identify and refer high-risk Latinas to genetic services. Next steps involve further refinement of ÁRBOLES, development of an online toolkit, and adaptation for virtual delivery.

Latinas at high risk for hereditary breast and ovarian cancer (HBOC) have low rates of genetic counseling and testing. Latinas may not have ready access to services like genetic counseling and testing, which need special solutions. One solution can involve training community health workers to bridge the gap between Latinas and genetic specialists. We developed an online and in person training program (ÁRBOLES Familiares or Family Trees) for English-Spanish bilingual community health workers that teaches them how to help Latinas get access to genetic services. We tested this program with a small group of community health workers. After the program, their HBOC knowledge, genetic literacy, and confidence to help Latinas get access to genetic services had improved. Trainees also made suggestions to improve the program, which will be used to help future trainees expand their knowledge and skills to work with Latinas at risk of HBOC.

Where culture meets genetics: Exploring Latina immigrants' lay beliefs of disease inheritance.

As medical genetic services become a standard part of healthcare, it will become increasingly important to understand how individuals interpret and use genetic information. Exploring lay beliefs of disease inheritance that differ along cultural lines is one research strategy. The purpose of this study was to describe conceptualizations of disease inheritance held by members of the Latina immigrant population in the United States. Semi-structured interviews were employed to gather qualitative, exploratory data from 20 Latina immigrant women. All interviews were conducted in Spanish, and thematic analysis was used to analyze interview transcripts. Demographic and acculturation data were also collected and analyzed. The final sample was diverse in age, time lived in the United States, country of birth, and education level. From participant interviews, the authors identified one dominant model of disease inheritance to which most participants ascribed as well as two non-dominant models. The main model was characterized by a focus on the ability to modify an underlying disease risk, especially in the case of hereditary predisposition to common complex disease. Of the non-dominant models, one focused on genetic disease as extraordinary and less modifiable while the other placed less emphasis on the role of genes in health and greater emphasis on non-genetic factors. Across these models, participants expressed their uncertainty about their understanding of genetics. Many of the themes that arose from the interviews, including uncertainty in their own understanding of genetics, were similar to those seen in studies among other populations. Importantly, participants in this study demonstrated a lack of genetic fatalism, which may allay fears that explaining the role of genetics in common health conditions will reduce uptake of positive health behaviors. These findings have practice implications for healthcare providers communicating genetic information to Latina immigrants.

A comparison of genomic laboratory reports and observations that may enhance their clinical utility for providers and patients.

PURPOSE: To assess clinical chromosomal microarray (CMA) genomic testing reports for the following: (a) usage of reporting elements consistent with 2011 ACMG guidelines and other elements identified in the primary literature, (b) information quality, and (c) readability. METHODS: We retrospectively analyzed genomic testing reports from 2011 to 2016 provided to, or by our laboratory to aid in clinical detection and interpretation of copy number variants. Analysis was restricted to the following sections: interpretation, recommendations, limitations, and citations. Analysis included descriptive characteristics, reporting elements, reading difficulty using the Simple Measure of Gobbledygook (SMOG), and quality ratings using a subset of questions adapted from the DISCERN-Genetics questionnaire. RESULTS: The analysis included 44 unique reports from 26 laboratories comprising four groups: specialty laboratories (SL; N = 9), reference laboratories (RL; N = 12), hospital laboratories (HL; N = 10), and university-based laboratories (UL; N = 13). There were 23 abnormal/pathogenic reports and 21 of uncertain/unknown significance. Nine laboratories did not include one or more pieces of information based on ACMG guidelines; only one of ten laboratories reported condition-specific management/treatment information when available and relevant. Average quality ratings and readability scores were not significantly different between laboratory types or result classification. CONCLUSIONS: Reporting practices for most report elements varied widely; however, readability and quality did not differ significantly between laboratory types. Management and treatment information, even for well-known conditions, are rarely included. Effectively communicating test results may be improved if certain reporting elements are incorporated. Recommendations to improve laboratory reports are provided.

Choices for return of primary and secondary genomic research results of 790 members of families with Mendelian disease.

Although consensus is building that primary (PR) and secondary findings (SF) from genomic research should be offered to participants under some circumstances, data describing (1) actual choices of study participants and (2) factors associated with these choices are limited, hampering study planning. We conducted a cross-sectional analysis of choices made for return of PR and SF during informed consent by members of the first 247 families (790 individuals) enrolled in the Baylor-Hopkins Center for Mendelian Genomics, a genome sequencing study. Most (619; 78.3%) chose to receive SF and PR, 66 (8.4%) chose PR only, 65 (8.2%) wanted no results, and 40 (5.1%) chose SF only. Choosing SF was associated with an established clinical diagnosis in the proband (87.8 vs 79%, P=0.009) and European ancestry (EA) (87.7 vs 73%, P<0.008). Participants of non-European ancestry (NEA) were as likely as those of EA to choose SF when consented by a genetic counselor (GC) (82% NEA vs 88.3% EA, P=0.09) but significantly less likely when consented by a physician (67.4% NEA vs 85.4% EA, P=0.001). Controlling for proband diagnosis, individuals of NEA were 2.13-fold (95% CI: 1.11-4.08) more likely to choose SF when consented by a GC rather than a physician. Participants of NEA were 3-fold more likely than those of EA to decline all study results (14.7% NEA vs 5.4% EA, P<0.008). In this ethnically diverse population, whereas most participants desired PR and SF, more than 20% declined some or all results, highlighting the importance of research participant choice.