Hay Jennifer L, Meyer White Kirsten, Sussman Andrew, Kaphingst Kim, Guest Dolores, Schofield Elizabeth, Dailey Yvonne T, Robers Erika, Schwartz Matthew R, Zielaskowski Kate, Li Yuelin, Buller David, Hunley Keith, Berwick Marianne
Memorial Sloan Kettering Cancer Center, New York, New York, USA,
University of New Mexico, Albuquerque, New Mexico, USA.
Public Health Genomics. 2019;22(1-2):58-68. doi: 10.1159/000501985. Epub 2019 Aug 22.
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.
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.
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.
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.
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.
基因组学的转化研究范围有限，需要努力扩大不同人群的获取途径和实用性。皮肤癌很常见且发病率在上升，包括在西班牙裔人群中。黑皮质素-1受体（MC1R）基因中的种系变异在人群中很常见，并赋予不同皮肤类型的人患黑色素瘤和基底细胞癌的中度风险。关于MC1R风险状态的反馈可能会提高皮肤癌风险意识并降低风险。
我们研究了进行MC1R检测的兴趣水平，以及在对皮肤癌的感知威胁和控制态度、文化信仰（家庭对健康的影响、对医疗系统的不信任、癌症宿命论、皮肤癌误解）和健康素养方面的兴趣模式。
我们使用一个研究网站向新墨西哥州阿尔伯克基的初级保健患者介绍MC1R检测的利弊。网站登录、唾液检测试剂盒的申请以及检测试剂盒的返还（是与否）是研究兴趣和接受程度的主要评估指标。
在499名收到检测提议的参与者中，33%申请并返还了检测。家庭对参与者健康的影响较低是总体以及各种族亚组中的一个重要因素，这可能表明对皮肤癌基因检测感兴趣的初级保健患者将自己视为积极的健康追求者，独立于家庭鼓励之外。皮肤癌预防自我效能较低也是进行检测者的一个重要特征。
随着皮肤癌常见基因标记的证据不断积累，这些发现表明了最有可能进行皮肤癌风险基因检测者的特征。
