Supplementary Material for: Psychosocial and Cultural Determinants of Interest and Uptake of Skin Cancer Genetic Testing in Diverse Primary Care

<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.

背景：基因组学转化研究的覆盖范围有限，亟需通过相关工作拓展其在不同人群中的可及性与应用价值。皮肤癌为常见恶性肿瘤，且发病率持续攀升，西班牙裔人群亦为受影响群体之一。黑皮质素1受体（melanocortin-1 receptor, MC1R）基因的生殖系变异在人群中较为普遍，可在不同皮肤类型个体中增加黑色素瘤与基底细胞癌的中等发病风险。针对MC1R风险状态的相关反馈，或可提升皮肤癌风险认知水平并推动风险规避行为。
目的：本研究旨在探讨受试者对MC1R基因检测的意愿程度，以及该意愿与皮肤癌感知威胁、控制态度、文化信念（含家庭对健康的影响、医疗系统不信任、癌症宿命论、皮肤癌认知误区）及健康素养之间的关联模式。
方法：本研究通过研究网站向美国新墨西哥州阿尔伯克基市的初级保健患者介绍MC1R基因检测的利弊得失。以受试者的网站登录行为、唾液检测试剂盒申领情况及试剂盒返还情况（是/否）作为评估研究意愿与参与度的核心指标。
结果：在499名收到检测邀约的受试者中，33%的受试者申领并返还了检测试剂盒。较低的家庭对自身健康的影响程度，无论是在整体队列还是种族亚组分析中，均为重要影响因素，这提示对皮肤癌基因检测感兴趣的初级保健患者，更倾向于成为主动寻求健康服务的个体，而非依赖家庭鼓励。此外，皮肤癌预防自我效能感较低，亦是参与检测人群的显著特征。
结论：随着皮肤癌常见遗传标记相关研究证据的不断积累，本研究结果明确了最有可能主动寻求皮肤癌风险基因检测的人群特征。