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OBJECTIVE: To broaden the currently limited reach of genomic innovations, research is needed to understand how psychosocial and cultural factors influence reactions to genetic testing in diverse subgroups. Cancer fatalism is important in cancer prevention and deserves theoretical and empirical attention in the context of genomics and behavior change. METHODS: The current study employed data from a randomized controlled trial (N = 593) offering skin cancer genetic testing (using the melanocortin-1 receptor [MC1R] gene) in primary care in Albuquerque, New Mexico, USA. We examined interrelations of cancer fatalism with demographics, general health beliefs, perceived risk, perceived control, sun protection and skin screening behaviors and cancer worry in the skin cancer context stratified across Hispanic versus non-Hispanic ethnicity, and examined cancer fatalism as a moderator of intervention effects on study primary outcomes, including 3-month sun protection, cancer worry and perceived risk. RESULTS: Cancer fatalism was significantly related to the perception of control over skin cancer risk behaviors (ps ≤ 0.01) and demographics (ethnicity, education, health literacy; ps < 0.05), but not consistently related to general health beliefs or risk perception. Cancer fatalism did not moderate intervention effects on primary outcomes, except those with higher cancer fatalism randomized to intervention had higher levels of 3-month cancer worry (p = 0.019). CONCLUSIONS: These findings will guide future work considering the role of cancer fatalism in use of genomic technologies in the general population. This work anticipates strategies required to address cancer fatalism as translational genomics becomes more commonly available to diverse general population subgroups.
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Conocimientos, Actitudes y Práctica en Salud , Neoplasias Cutáneas , Humanos , Neoplasias Cutáneas/genética , Neoplasias Cutáneas/prevención & control , Neoplasias Cutáneas/psicología , Hispánicos o Latinos/psicología , Pruebas Genéticas , Atención Primaria de SaludRESUMEN
Researchers use public records from deceased individuals to identify trends in manners and causes of death. Errors in the description of race and ethnicity can affect the inferences researchers draw, adversely impacting public health policies designed to eliminate health inequity. Using the New Mexico Decedent Image Database, we examine: 1) the accuracy of death investigator descriptions of race and ethnicity by comparing their reports to those from next of kin (NOK), 2) the impact of decedent age and sex on disagreement between death investigators and NOK, and 3) the relationship between investigators' descriptions of decedent race and ethnicity and cause and manner of death from forensic pathologists (n = 1813). Results demonstrate that investigators frequently describe race and ethnicity incorrectly for Hispanic/Latino decedents, especially regarding homicide manner of death and injury and substance abuse causes of death. Inaccuracies may cause biased misperceptions of violence within specific communities and affect investigative processes.
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Few studies have examined comprehension and miscomprehension of genetic risk feedback for moderate-risk genes in the general population. We examined the prevalence and nature of accurate and inaccurate genetic risk feedback comprehension among those who received genetic testing for melanocortin-1-receptor (MC1R) gene variants that confer moderate melanoma risk. Participants (N = 145 Albuquerque, NM) were tested as part of a randomized controlled trial. Two weeks after receiving MC1R genetic risk feedback, participants answered open-ended questions regarding their reactions to the MC1R feedback report. Participants' comprehension of their feedback (average-risk or higher-risk for melanoma) was evaluated through qualitative analysis of open-ended responses. Most participants demonstrated comprehension of their feedback results (i.e., 63% of average-risk participants [ARPs]; 51% of higher-risk participants [HRPs]). Miscomprehension was evident in fewer participants (i.e., 16% of ARPs, 11% of HRPs). A few ARPs misunderstood the purpose of testing, whereas a few HRPs reported confusion about the meaning of their risk feedback. Some participants' responses to the open-ended questions were too ambiguous to ascertain comprehension or miscomprehension (i.e., 21% of ARPs, 38% of HRPs). Taken together, these findings suggest that genetic testing feedback for MC1R risk variants is largely comprehensible to general population participants. This study adds to the work examining comprehension and usage of common, moderate risk genetic information in public health contexts. However, to maximize the utility of genetic risk information in the general population, further research is needed to investigate and address areas where common genetic risk feedback misunderstandings occur.
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INTRODUCTION: Moving beyond numeric representations of risk perceptions, we examine cognitive causation, or superstitious thinking, and negative affect in risk as predictors of MC1R (i.e., moderate v. high risk) skin cancer genetic testing and responses to this testing. METHODS: Participants (N = 496) completed baseline assessments using validated measures of cognitive causation (beliefs that thinking about cancer risk increases cancer likelihood) and negative affect in risk (negative feelings generated during risk perception) and subsequently received a test offer. Participants could access a website to learn about and request genetic testing. Those who tested (n = 167) completed assessments of cognitive and affective reactions 2 wk after testing, including the Impact of Events-Revised Intrusive thoughts subscale. RESULTS: Those with higher negative affect in risk were less likely to return a saliva sample for testing (odds ratio = 0.98, 95% confidence interval = 0.96-0.99). Those with higher cognitive causation reported more fear (b = 0.28-0.31; P's < 0.05). Higher negative affect in risk was associated with more emotion-laden test responses, particularly in those receiving higher-risk as compared with average-risk results. CONCLUSION: Negative affect in risk did not hamper test information seeking, although it did inhibit the uptake of genetic testing. Those with higher cognitive causation showed more fear regarding their test result, as indicated by higher distress in those who received average-risk results and lower believability in those who received higher-risk results.
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Intuición , Neoplasias Cutáneas , Cognición , Miedo/psicología , Pruebas Genéticas , Humanos , Neoplasias Cutáneas/genética , Neoplasias Cutáneas/psicologíaRESUMEN
Family communication about skin cancer risk may motivate protective behaviors. However, it is unclear how widespread such communication might be. In this study, we describe prevalence and patterns (across environmental, personal, and behavioral factors) of family communication about skin cancer across N = 600 diverse (79% female, 48% Hispanic, 44% non-Hispanic White) primary care patients from Albuquerque, New Mexico, a geographical location with year-round sun exposure. Over half reported discussing general cancer (77%) and skin cancer risks (66%) with their families. The most frequent target of skin cancer risk communication included doctors (54%), followed by friends/coworkers (49%), spouse/partner (43%), other family members (38%), sisters (36%), mothers (36%), daughters (33%), sons (32%), father (24%), and brothers (22%). On average, participants reported having talked to three family members about skin cancer risks. The most frequently discussed content of skin cancer risk communication was the use of sun protection (89%), followed by the personal risk of skin cancer (68%), who had skin cancer in the family (60%), family risk of skin cancer (59%), time of sun exposure (57%), and skin cancer screening (57%). A family or personal history of cancer, higher perceived risk, higher health literacy, being non-Hispanic, having higher education or income, and proactive sun protective behavior were associated with greater family communication about general cancer and skin cancer risks. These study findings have implications for interventions that encourage discussions about skin cancer risk, sun protection, and skin cancer screening that lead to adoption of sun-safe behaviors.
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Neoplasias Cutáneas , Protectores Solares , Comunicación , Femenino , Conductas Relacionadas con la Salud , Conocimientos, Actitudes y Práctica en Salud , Hispánicos o Latinos , Humanos , Masculino , Neoplasias Cutáneas/prevención & controlRESUMEN
Hispanic ethnicity can be captured with differing levels of granularity using various data standards, including those from the Office of Management and Budget, Health and Human Services and National Academy of Medicine. Previous research identified seven subgroups of Hispanics in New Mexico using open-ended interviews and information about the culture/history of the state. We examined age and manner of death to determine whether differences among subgroups are hidden by less-refined categorization. Significant differences in the mean age at death were found between some groups, including Spanish and Mexican Americans. We found an association between specific manners of death codes and subgroups. However, significance disappeared when manners of death were grouped (e.g. accident, homicide, etc.). This indicates that while certain manners of death are associated with group membership, overall types of death are not. Data descriptors for Hispanics should reflect more refined, regionally relevant groups, in order to unmask heterogeneity.
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Certificado de Defunción , Homicidio , Etnicidad , Hispánicos o Latinos , HumanosRESUMEN
Public availability of genetic information is increasing; thus, efforts to improve diversity in basic and translational research in genomics is a top priority. Given the increasing U.S. incidence and mortality of melanoma, and the prevalence of common melanocortin-1 receptor (MC1R) gene melanoma risk variants in the general population, we examined genomic testing of MC1R for skin cancer risk in a randomized controlled trial in Albuquerque, New Mexico primary care. Participants were 48% Hispanic and were randomized 5:1 to a MC1R test invitation or usual care. We assessed 3 month sun protection, skin cancer screening, and skin cancer worry outcomes associated with testing, and key effect moderators (e.g., cancer risk perceptions, and skin cancer risk factors). Our findings indicate that the primary outcomes were unchanged by the MC1R test offer, test acceptance, and level of risk feedback. Moderator analyses showed that those with lower risk perception, and those with skin that readily tans, significantly increased their sun protection in response to higher than average risk feedback. Risk feedback did not prompt cancer worry, and average risk feedback did not erode existing sun protection. This study paves the way for the development of tailored strategies to address low skin cancer risk awareness in this understudied context of public health genomics.
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OBJECTIVE: Differences between self-perceived biogeographic ancestry and estimates derived from DNA are potentially informative about the formation of ethnic identities in different sociohistorical contexts. Here, we compared self-estimates and DNA-estimates in New Mexico, where notions of shared ancestry and ethnic identity have been shaped by centuries of migration and admixture. MATERIALS AND METHODS: We asked 507 New Mexicans of Spanish-speaking descent (NMS) to list their ethnic identity and to estimate their percentages of European and Native American ancestry. We then compared self-estimates to estimates derived from 291,917 single nucleotide polymorphisms (SNPs), and we examined how differences between the estimates varied by ethnic identity. RESULTS: Most NMS (94%) predicted that they had non-zero percentages of European and Native American ancestry. Self-estimates and SNP-estimates were positively correlated (rEuropean = 0.38, rNative-American = 0.36, p < 0.001). The correlations belie systematic patterns of underestimation and overestimation based on ethnic identity. NMS with ancestral ties to 20th century immigrants, who identified as Mexican or Mexican American, often underestimated their European ancestry (self-estimate < SNP-estimate) and overestimated their Native American ancestry. The pattern was reversed for NMS who emphasized deep connections to colonial New Mexico and identified as Spanish or Spanish American. DISCUSSION: While NMS accurately predicted that they had European and Native American ancestry, they predicted ancestry percentages with only moderate accuracy. Differences between self-estimated and SNP-estimated ancestry were associated with ethnic identities that were shaped by migration to the region over the past 400 years. We connect ethnic identities and patterns of ancestry estimation to resistance to colonial hegemony and discuss the implications of our results for the construction of ethnic identities, now and in the past.
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Colonialismo , Etnicidad , Población Negra , Hispánicos o Latinos , Humanos , New Mexico , Polimorfismo de Nucleótido Simple/genéticaRESUMEN
Fluctuating asymmetry (FA) in adults is thought to reflect specific types of developmental stress. If true, adult FA may be a proxy for developmental stress in past as well as current populations. To date, studies of the link between development and adult FA have produced ambiguous results due to insufficient measurement data for childhood environments. This study seeks to overcome this limitation using a structural equation modeling approach to evaluate the relationship between 29 measures of developmental environments and precise measures of adult FA. Sociodemographic information and 3D facial photographs were collected from 80 adult New Mexicans. Facial FA was measured from the photographs using geometric morphometric analysis of 12 facial landmarks. Each participant responded to a questionnaire addressing the developmental environment, including childhood home environment, family SES, health, and dietary quality. We used structural equation models to examine predictive relationships between latent variables constructed from questionnaire responses and adult facial FA. Childhood dietary quality was negatively associated with adult FA scores, meaning that poorer diets predict higher FA (standardized path coefficient -0.174, p = 0.039). Factors that loaded positively on the dietary quality construct were a diet quality index, the frequency of homemade meals, and the frequency of homemade breakfast, while the frequency of fast-food meals loaded negatively. No other latent variable predicted adult facial FA. We posit that the negative relationship between dietary quality and FA reflects a negative energy balance experienced during development. Insufficient nutrition results in a reduced capacity to buffer against environmental perturbations, with increased FA as evidence. Given previously established links between FA and adult health outcomes in humans, this finding also underscores the importance of dietary quality during development for ensuring health and wellbeing later in life. These results indicate that FA in facial shape may signal the relative quality of dietary conditions during development.
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Cara , Asimetría Facial , Adulto , Niño , Dieta , HumanosRESUMEN
Geneticists have argued that the linear decay in within-population genetic diversity with increasing geographic distance from East Africa is best explained by a phylogenetic process of repeated founder effects, growth, and isolation. However, this serial founder effect (SFE) process has not yet been adequately vetted against other evolutionary processes that may also affect geospatial patterns of diversity. Additionally, studies of the SFE process have been largely based on a limited 52-population sample. In this modestly updated article, originally published in Human Biology in 2016 (vol. 88, no. 3, pp. 219-231), we assess the effects of founder effect, admixture, and localized gene flow processes on patterns of global and regional diversity using a published data set of 645 autosomal microsatellite genotypes from 5,415 individuals in 248 widespread populations. We used a formal tree-fitting approach to explore the role of founder effects. The approach involved fitting global and regional population trees to extant patterns of gene diversity and then systematically examining the deviations in fit. We also informally tested the SFE process using linear models of gene diversity versus waypoint geographic distances from Africa. We tested the role of localized gene flow using partial Mantel correlograms of gene diversity versus geographic distance controlling for the confounding effects of treelike genetic structure. We corroborate previous findings that global patterns of diversity, both within and between populations, are the product of an out-of-Africa SFE process. Within regions, however, diversity within populations is uncorrelated with geographic distance from Africa. Here, patterns of diversity have been largely shaped by recent interregional admixture and secondary range expansions. Our detailed analyses of the pattern of diversity within and between populations reveal that the signatures of different evolutionary processes dominate at different geographic scales. These findings have important implications for recent publications on the biology of race. Our new foreword situates these findings in a long line of anthropological research that categorically rejects racial interpretations of analyses of human diversity.
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Efecto Fundador , Flujo Génico , África , Variación Genética/genética , Genética de Población , Humanos , Repeticiones de Microsatélite , FilogeniaRESUMEN
OBJECTIVE: Few studies have examined how health literacy impacts responses to genetic information. METHODS: We examined this issue among 145 English or Spanish-speaking adult primary care patients enrolled in a trial that offered testing for MC1R gene variants that confer moderately increased melanoma risk. We investigated whether health literacy skills, educational attainment, or melanoma risk were related to short-term cognitive and affective responses to genetic test results. RESULTS: On average, participants found the test results to be highly believable and clear, with low levels of negative emotional responses and moderate levels of positive responses. In adjusted models, health literacy skills were significantly inversely associated with confusion (OR = 0.75, 95 % CI = 0.58, 0.96); those with higher education thought significantly less about their test results (ß = -0.66), were less hopeful (ß = -0.89), and had lower distress (ß = -1.15). We also observed a significant interaction (p < .001) between health literacy and melanoma risk in affecting the frequency of thoughts about test results. CONCLUSION: The findings indicate that health literacy skills may affect to what extent individuals elaborate cognitively on genetic information. PRACTICE IMPLICATIONS: Patients with lower health literacy skills or education may need support in understanding genetic test results.
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Alfabetización en Salud , Melanoma , Adulto , Comprensión , Escolaridad , Pruebas Genéticas , Humanos , Melanoma/diagnóstico , Melanoma/genéticaRESUMEN
OBJECTIVE: Socially constructed ethnic identities are frequently rooted in beliefs about common descent that form when people with disparate cultures, languages, and biology come into contact. This study explores connections between beliefs about common descent, as represented by ethnic nomenclatures, and histories of migration and isolation ascertained from genomic data in New Mexicans of Spanish-speaking descent (NMS). MATERIALS AND METHODS: We interviewed 507 NMS who further identified using one of seven ethnic terms that they associated with beliefs about connections to past ancestors. For groups of individuals who identified using each term, we estimated biogeographic ancestry, fit admixture models to ancestry distributions, and partitioned genetic distance into admixture and drift components. RESULTS: Regardless of which ethnic term they used, all NMS had appreciable Native American (avg. 27%) and European ancestry (avg.71%). However, individuals who identified using terms associated with beliefs connecting them to colonial-period Spanish ancestors had significantly higher European ancestry than individuals who identified using terms associated with ancestral connections to post-colonial-period migrants from Mexico. Model-fitting analyses show that this ancestry difference reflects post-colonial gene flow with non-NMS European Americans, not colonial-period gene flow with Spaniards. Drift, not admixture, accounted for most of the genetic distance between NMS who expressed connections to Mexican versus Spanish ancestors, reflecting relative isolation of New Mexico and Mexico through the 19th century. DISCUSSION: Patterns of genomic diversity in NMS are consistent with beliefs about common descent in showing that New Mexico was isolated for generations following initial colonization. They are inconsistent with these beliefs in showing that all NMS have substantial European and Native American ancestry, and in showing that a proportion of European ancestry derives from post-colonial-period admixture with non-NMS European Americans. Our findings provide insights into the construction of ethnic identity in contexts of migration and isolation in New Mexico and, potentially, throughout human prehistory.
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Colonialismo , Flujo Génico , Flujo Genético , Variación Genética , Adulto , Etnicidad/genética , Femenino , Humanos , Masculino , Persona de Mediana Edad , New Mexico/etnología , Terminología como AsuntoRESUMEN
BACKGROUND: The Melanocortin 1 Receptor (MC1R) contributes to pigmentation, an important risk factor for developing melanoma. Evaluating SNPs in MC1R and association with race/ethnicity, skin type, and perceived cancer risk in a New Mexico (NM) population will elucidate the role of MC1R in a multicultural population. METHODS: We genotyped MC1R in 191 NMs attending a primary care clinic in Albuquerque. We obtained individuals' self-identified race/ethnicity, skin type, and perceived cancer risk. We defined genetic risk as carriage of any one or more of the nine most common SNPs in MC1R. RESULTS: We found that one MC1R SNP, R163Q (rs885479), was identified in 47.6% of self-identified Hispanics and 12.9% of non-Hispanic whites (NHW), making Hispanics at higher "genetic risk" (as defined by carrying one of the MC1R common variants). When we deleted R163Q from analyses, Hispanics were no longer at higher genetic risk (33.3%) compared with NHW (48.3%), consistent with melanoma rates, tanning ability, and lower perceived risk. Hispanics had a perceived risk significantly lower than NHW and a nonsignificant better tanning ability than NHW. CONCLUSIONS: The R163Q variant in MC1R may not be a risk factor for melanoma among NM Hispanics. This suggestion points to the need to carefully interpret genetic risk factors among specific populations. IMPACT: Genetic risk cannot be extrapolated from Northern European populations directly to non-European populations.
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Receptor de Melanocortina Tipo 1/genética , Variación Genética , Genotipo , Humanos , New MexicoRESUMEN
BACKGROUND: Translational research in genomics has limited reach and requires efforts to broaden access and utility in diverse populations. Skin cancer is common and rates are rising, including among Hispanics. Germline variants in the melanocortin-1 receptor (MC1R) gene are common in the population and confer moderate risk for melanoma and basal cell cancers across skin types. Feedback about MC1R risk status may promote skin cancer risk awareness and risk reduction. AIMS: We examined the level of interest in pursuing MC1R testing, and patterns of interest across skin cancer perceived threat and control attitudes, cultural beliefs (family influence on health, health system distrust, cancer fatalism, skin cancer misconceptions), and health literacy. METHODS: We used a study website to inform primary care patients in Albuquerque, NM about the benefits and drawbacks of MC1R testing. Website logon, request of a saliva test kit, and return of the test kit (yes vs. no) were primary assessments of study interest and uptake. RESULTS: Of 499 participants provided with a test offer, 33% requested and returned the test. Lower family influence on participants' health was an important factor both overall and within ethnicity subgroups, and may indicate that primary care patients interested in skin cancer genetic testing see themselves as proactive health seekers, independent from family encouragement. Lower self-efficacy for skin cancer prevention was also an important characteristic of those who tested. CONCLUSION: As evidence for common genetic markers for skin cancer accumulates, these findings suggest characteristics of those most likely to pursue genetic testing for skin cancer risk.
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Actitud Frente a la Salud , Diversidad Cultural , Alfabetización en Salud , Hispánicos o Latinos/psicología , Melanoma , Psicología , Receptor de Melanocortina Tipo 1 , Neoplasias Cutáneas , Adulto , Femenino , Pruebas Genéticas/métodos , Humanos , Masculino , Melanoma/etnología , Melanoma/genética , Melanoma/psicología , Persona de Mediana Edad , New Mexico/epidemiología , Atención Primaria de Salud/métodos , Receptor de Melanocortina Tipo 1/análisis , Receptor de Melanocortina Tipo 1/genética , Neoplasias Cutáneas/etnología , Neoplasias Cutáneas/genética , Neoplasias Cutáneas/psicologíaRESUMEN
This study examines associations between ethnic identity, regional history, and genomic ancestry in New Mexicans of Spanish-speaking descent (NMS). In structured interviews, we asked 507 NMS to select from a list of eight ethnic identity terms identified in previous research. We estimated genomic ancestry for each individual from 291,917 single nucleotide polymorphisms (SNPs) and compared genomic ancestry, age, and birthplace between groups of individuals who identified using each ethnic identity term. Eighty-eight per cent of NMS who identified as "Hispanic," "Nuevomexicano/a," and "Spanish," on average, were born in New Mexico, as were the vast majority of their parents and grandparents. Thirty-three per cent of NMS who identified as "Mexican" and "Mexican American" were born in Mexico, as were 59 per cent of their parents and 67 per cent of their grandparents. Average Native American and African ancestry proportions in "Hispanic" (0.26, 0.02, respectively), "Spanish" (0.25, 0.01), and "Nuevomexicano/a" (0.24, 0.01) NMS were significantly lower than in "Mexican American" (0.37, 0.04) NMS. Significant age differences between older "Spanish" and younger "Nuevomexicano/a" individuals, combined with widespread use of the term "Hispanic," may reflect ongoing nomenclature changes. Patterns of correspondence between ethnic identity, ethnic nomenclatures, and genomic ancestry reflect historical patterns of migration, colonization, and cultural change.
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Etnicidad/genética , Hispánicos o Latinos/psicología , Adulto , Etnicidad/psicología , Femenino , Inestabilidad Genómica/genética , Genómica , Hispánicos o Latinos/genética , Humanos , Entrevistas como Asunto/métodos , Masculino , Americanos Mexicanos/genética , Americanos Mexicanos/psicología , New Mexico/etnologíaRESUMEN
Importance: Germline variants in the MC1R gene are common and confer moderate melanoma risk in those with varied skin types. Approaches to precision skin cancer prevention that include genetic information may promote risk awareness and risk reduction in the general population, including Hispanics. Objective: To examine prevalence of interest in and uptake of MC1R testing in the general population and examine patterns across demographic and skin cancer risk factors. Design, Setting, and Participants: A randomized clinical trial examined interest in and uptake of MC1R testing among patients at University of New Mexico General Internal Medicine clinics. Study participants were randomized to either a usual-care condition (National Cancer Institute skin cancer pamphlet for diverse skin types) or an MC1R test offer. Participants were registered clinic patients (≥6 months) and English or Spanish fluent. Of the 600 participants recruited to the overall trial, the present study included those 499 participants randomized to the MC1R test offer. Interventions: Participants were presented with the option to log onto the study website to read 3 educational modules presenting the rationale, benefits, and drawbacks of MC1R testing. Main Outcomes and Measures: Main outcomes include website log on (yes vs no), saliva test kit request (yes vs no), and saliva test kit return for MC1R testing (yes vs no). Demographic and skin cancer risk factors were examined as potential predictors of test interest and uptake. Results: Of the 499 participants (220 [44%] non-Hispanic white, 242 [48%] Hispanic, 396 [79%] female; mean [SD] age, 54 [14.3] years), 232 (46%) elected to learn about MC1R testing by logging onto the website; 204 (88%) of those who logged on decided to request testing; and 167 (82%) of those who requested testing returned the kit. The strongest predictors of website log on were race/ethnicity and education (non-Hispanic whites were more likely to log on [odds ratio for Hispanics vs non-Hispanic whites, 0.5; 95% CI, 0.3-0.7], as were more highly educated individuals [odds ratio for more than high school vs high school or less, 2.7; 95% CI, 1.7-4.3]). The strongest predictor of ordering the test was sunburn history (odds ratio, 5.4; 95% CI, 2.3-12.9 vs no sunburn history). Conclusions and Relevance: There were moderately high levels of MC1R test interest and uptake in this diverse sample. Addressing potential barriers to testing may be warranted as genomic information becomes integrated into general population approaches to the precision prevention of skin cancer. Trial Registration: ClinicalTrials.gov identifier: NCT03130569.
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Pruebas Genéticas/estadística & datos numéricos , Conocimientos, Actitudes y Práctica en Salud , Melanoma/prevención & control , Aceptación de la Atención de Salud/estadística & datos numéricos , Receptor de Melanocortina Tipo 1/genética , Neoplasias Cutáneas/prevención & control , Adulto , Anciano , Escolaridad , Femenino , Conocimientos, Actitudes y Práctica en Salud/etnología , Hispánicos o Latinos/estadística & datos numéricos , Humanos , Internet , Masculino , Melanoma/genética , Persona de Mediana Edad , New Mexico/epidemiología , Educación del Paciente como Asunto , Medición de Riesgo/métodos , Neoplasias Cutáneas/genética , Quemadura Solar/epidemiología , Población Blanca/estadística & datos numéricosRESUMEN
We examined the relationship between continental-level genetic ancestry and racial and ethnic identity in an admixed population in New Mexico with the goal of increasing our understanding of how racial and ethnic identity influence genetic substructure in admixed populations. Our sample consists of 98 New Mexicans who self-identified as Hispanic or Latino (NM-HL) and who further categorized themselves by race and ethnic subgroup membership. The genetic data consist of 270 newly-published autosomal microsatellites from the NM-HL sample and previously published data from 57 globally distributed populations, including 13 admixed samples from Central and South America. For these data, we 1) summarized the major axes of genetic variation using principal component analyses, 2) performed tests of Hardy Weinberg equilibrium, 3) compared empirical genetic ancestry distributions to those predicted under a model of admixture that lacked substructure, 4) tested the hypotheses that individuals in each sample had 100%, 0%, and the sample-mean percentage of African, European, and Native American ancestry. We found that most NM-HL identify themselves and their parents as belonging to one of two groups, conforming to a region-specific narrative that distinguishes recent immigrants from Mexico from individuals whose families have resided in New Mexico for generations and who emphasize their Spanish heritage. The "Spanish" group had significantly lower Native American ancestry and higher European ancestry than the "Mexican" group. Positive FIS values, PCA plots, and heterogeneous ancestry distributions suggest that most Central and South America admixed samples also contain substructure, and that this substructure may be related to variation in social identity. Genetic substructure appears to be common in admixed populations in the Americas and may confound attempts to identify disease-causing genes and to understand the social causes of variation in health outcomes and social inequality.
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Etnicidad/genética , Grupos de Población/genética , Identificación Social , Femenino , Humanos , América Latina , Masculino , Repeticiones de Microsatélite/genética , New Mexico , Análisis de Componente PrincipalRESUMEN
BACKGROUND: Limited translational genomic research currently exists to guide the availability, comprehension, and appropriate use of personalized genomics in diverse general population subgroups. Melanoma skin cancers are preventable, curable, common in the general population, and disproportionately increasing in Hispanics. OBJECTIVE: Variants in the melanocortin-1 receptor (MC1R) gene are present in approximately 50% of the population, are major factors in determining sun sensitivity, and confer a 2-to-3-fold increase in melanoma risk in the general population, even in populations with darker skin. Therefore, feedback regarding MC1R risk status may raise risk awareness and protective behavior in the general population. METHODS: We are conducting a randomized controlled trial examining Internet presentation of the risks and benefits of personalized genomic testing for MC1R gene variants that are associated with increased melanoma risk. We will enroll a total of 885 participants (462 participants are currently enrolled), who will be randomized 6:1 to personalized genomic testing for melanoma risk versus waiting list control. Control participants will be offered testing after outcome assessments. Participants will be balanced across self-reported Hispanic versus non-Hispanic ethnicity (n=750 in personalized genomic testing for melanoma risk arm; n=135 in control arm), and will be recruited from a general population cohort in Albuquerque, New Mexico, which is subject to year-round sun exposure. Baseline surveys will be completed in-person with study staff and follow-up measures will be completed via telephone. RESULTS: Aim 1 of the trial will examine the personal utility of personalized genomic testing for melanoma risk in terms of short-term (3-month) sun protection and skin screening behaviors, family and physician communication, and melanoma threat and control beliefs (ie, putative mediators of behavior change). We will also examine potential unintended consequences of testing among those who receive average-risk personalized genomic testing for melanoma risk findings, and examine predictors of sun protection at 3 months as the outcome. These findings will be used to develop messages for groups that receive average-risk feedback. Aim 2 will compare rates of test consideration in Hispanics versus non-Hispanics, including consideration of testing pros and cons and registration of a decision to either accept or decline testing. Aim 3 will examine personalized genomic testing for melanoma risk feedback comprehension, recall, satisfaction, and cancer-related distress in those who undergo testing, and whether these outcomes differ by ethnicity (Hispanic vs non-Hispanic), or sociocultural or demographic factors. Final outcome data collection is anticipated to be complete by October 2017, at which point data analysis will commence. CONCLUSIONS: This study has important implications for personalized genomics in the context of melanoma risk, and may be broadly applicable as a model for delivery of personalized genomic feedback for other health conditions.
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Genomic medicine has revolutionized disease risk identification and subsequent risk reduction interventions. Skin cancer risk genomic feedback is a promising vehicle to raise awareness and protective behaviors in the general population, including Hispanics who are largely unaware of their risks. Yet, personalized genomics currently has limited reach. This study is the initial phase of a randomized controlled trial investigating the personal utility and reach of genomic testing and feedback for melanoma. Semi-structured cognitive interviews (N = 28), stratified across education level, were conducted to assess the comprehension and acceptability of translated skin cancer genomic risk education materials with Spanish-speaking Hispanic primary care patients. Overall, materials were comprehensible and acceptable with 33 of 246 terms/concepts identified as difficult. Common problems included translation challenges (e.g., peeling from sunburn), ambiguous concepts (e.g., healthcare system), and problematic terms (e.g., risk version). Aiming to expand the reach of genomic medicine across subpopulations that may benefit from it, necessary modifications were made to education materials to improve comprehensibility, acceptability, and cultural relevance.
RESUMEN
In this study, we evaluated the extent to which regional history has shaped the social identity nomenclature in New Mexicans of Spanish-speaking descent (NMSD). We asked 507 NMSD to list the social-identity terms they used to describe themselves and their parents, and we examined the correspondence between these choices and family ties to the region, birthplace, and continental ancestry. NMSD frequently identified using the regional terms "Nuevomexicano/a" (15%) and "Spanish" (12%). These individuals reported family ties to the region that predate New Mexican statehood. They and their parents were frequently born in New Mexico, frequently chose the other of the two terms as a secondary descriptor, and frequently ascribed one of the two terms to their parents. About 10% of NMSD identified as "Mexican American" and "Mexican." About 25% of these individuals, and more than half of their parents, were born in Mexico. They also frequently chose the other of the two terms as a secondary descriptor and frequently ascribed one of the two terms to their parents. Compared to NMSD who identified as "Mexican" and "Mexican American," individuals who identified as "Nuevomexicano/a" and "Spanish" had higher European ancestry and lower Native American and African ancestry. Our results also suggest that the term "Hispanic," frequently chosen as both a primary and secondary social identity term by NMSD, may, as it continues to rise in prominence, mask more deeply rooted and potential socially relevant aspects of social identity in New Mexico. More broadly, these results indicate that regional history influences social identity nomenclatures in ways that are potentially incompatible with US Office of Management and Budget standards. This incompatibility may adversely affect the ability of researchers in the social sciences to assess the causes of social inequality and health disparities in individuals of Spanish-speaking descent in different regions of the United States. We argue that future studies would benefit from more fine-grained, region-specific analyses of social identity.