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 A randomized controlled trial examined interest in and uptake of MC1R testing. Study participants were randomized to either a usual care condition (NCI skin cancer pamphlet for diverse skin types) or an MC1R test offer. Setting University of New Mexico General Internal Medicine clinics. Participants Participants were registered clinic patients (≥ 6 months) and English or Spanish fluent. Of the N=600 recruited to the overall trial, the current study included those 499 participants randomized to the MC1R test offer (44% non-Hispanic white, 49% Hispanic, 79% female; mean age=54). Intervention Participants were presented with the option to log onto the study website to read three educational modules presenting the rationale, benefits and drawbacks of MC1R testing. Main Outcomes and Measures Main outcomes include website logon (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 About half of participants (46%, n=232) elected to learn about MC1R testing by logging onto the website; most that logged on decided to request testing (88%, n=204); and most who requested testing returned the kit (82%, n=167). The strongest predictors of website logon were race/ethnicity and education (non-Hispanic whites and more highly educated were more likely to log on); the strongest predictor of ordering the test was sunburn history. Conclusion 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.
BackgroundLimited 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.ObjectiveVariants 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.MethodsWe 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.ResultsAim 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.ConclusionsThis 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...
<b><i>Background:</i></b> 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 (<i>MC1R</i>) gene are common in the population and confer moderate risk for melanoma and basal cell cancers across skin types. Feedback about <i>MC1R</i> risk status may promote skin cancer risk awareness and risk reduction. <b><i>Aims:</i></b> We examined the level of interest in pursuing <i>MC1R</i> 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. <b><i>Methods:</i></b> We used a study website to inform primary care patients in Albuquerque, NM about the benefits and drawbacks of <i>MC1R</i> 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. <b><i>Results:</i></b> 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. <b><i>Conclusion:</i></b> 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.
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.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.