Khan Erva, Kaphingst Kimberly A, Meyer White Kirsten, Sussman Andrew, Guest Dolores, Schofield Elizabeth, Dailey Yvonne T, Robers Erika, Schwartz Matthew R, Li Yuelin, Buller David, Hunley Keith, Berwick Marianne, Hay Jennifer L
Department of Psychiatry and Behavioral Sciences, Mount Sinai Beth Israel, 281 1st Avenue, New York, NY, 10003, USA.
Huntsman Cancer Institute and Department of Communication, University of Utah, Salt Lake City, UT, USA.
J Community Genet. 2022 Feb;13(1):113-119. doi: 10.1007/s12687-021-00566-9. Epub 2021 Nov 19.
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.
很少有研究考察普通人群对中度风险基因的遗传风险反馈的理解和误解情况。我们调查了那些接受了黑皮质素-1-受体（MC1R）基因变异检测的人群中，准确和不准确的遗传风险反馈理解的发生率及性质，该基因变异会带来中度的黑色素瘤风险。参与者（N = 145，新墨西哥州阿尔伯克基市）作为一项随机对照试验的一部分接受了检测。在收到MC1R遗传风险反馈两周后，参与者回答了关于他们对MC1R反馈报告反应的开放式问题。通过对开放式回答的定性分析来评估参与者对其反馈（黑色素瘤平均风险或更高风险）的理解。大多数参与者表现出对其反馈结果的理解（即63%的平均风险参与者[ARPs]；51%的更高风险参与者[HRPs]）。误解在较少的参与者中明显存在（即16%的ARPs，11%的HRPs）。一些ARPs误解了检测的目的，而一些HRPs报告对其风险反馈的含义感到困惑。一些参与者对开放式问题的回答过于模糊，无法确定其理解或误解情况（即21%的ARPs，38%的HRPs）。总体而言，这些发现表明普通人群参与者对MC1R风险变异的基因检测反馈在很大程度上是可理解的。这项研究补充了在公共卫生背景下考察常见中度风险遗传信息的理解和使用情况的工作。然而，为了最大限度地提高普通人群中遗传风险信息的效用，需要进一步研究来调查和解决常见遗传风险反馈误解发生的领域。
