Investigating ELSI issues that may facilitate or impede clinical translation of epigenomic research

摘要 影响疾病的环境因素可能是通过化学改变DNA中调节 基因表达。这些对遗传密码的修饰被称为“表观遗传学”。表观遗传变化 可通过暴露于环境污染物、社会压力或生活方式行为而获得。的利益或 这些改变的危害取决于基因的目的和改变基因表达的方式。 通信 促进 从 遗传 帮助人们理解和利用表观遗传信息的策略需要（1） 将表观遗传学研究转化为临床应用，（2）解决潜在的误导性信息 大众媒体，以及（3）防止与表观遗传学相关的有害信念的传播，如 决定论、本质主义、歧视、种族主义和污名化。我们的目标是 F 方便 翻译过程中，通过开发可理解的表观遗传交流策略， 对社会人口统计学上不同的观众有意义，并且最大限度地减少有害的信念（例如，决定论）。 具体目标是：（1）确定人们如何理解和解释表观遗传学信息;（2） 检查表观遗传学的伦理、法律的和社会影响（ELSI），以（a）创造或减少有害的 （B）鼓励或不鼓励接受在临床环境中使用表观遗传学;（3）识别 以促进对表观遗传学理解的方式交流有关表观遗传学信息的策略 概念，最大限度地减少有害的信念，并增加在临床环境中使用表观遗传学的接受度;以及（4） 确定种族、民族和正规教育如何影响目标1-3的结果。我们将使用探索性 序贯混合方法设计，包括一个定性阶段，然后是两个连续的定量 阶段。定性阶段将包括20个重点小组（总共N=160，每组n=8）。定量 阶段将包括一项全国代表性的、基于人口的调查（N=1,870）和一项全因子 测试沟通策略的实验（N= 1，954）。的 的 非西班牙 和 参与者 翻译 关于 人口统计 边缘化 公共 一 每个阶段的示例，其中包括成员 一般公众将按种族和民族被大致均等地划分（即，西班牙裔， 黑人、非西班牙裔白色、非西班牙裔亚裔、非西班牙裔美国印第安人、夏威夷原住民 其他太平洋岛民）和大约平均分配的正规教育（即，至少50%的 没有上过大学。我们提出的研究将克服一个关键的障碍，公平 基础表观遗传学研究在临床和公共卫生实践中的应用：有限的科学知识 如何以一种对社会来说是可理解和有意义的方式来传播表观遗传学 多样化的受众，从而最大限度地减少有害的信念，并包括 人口数量。此外，我们的发现可以作为研究的基础，以检查 对其他新兴基因组学技术的看法。我们将通过开发 传播我们发现的工具。 , 不

ABSTRACT Environmental factors that influence disease may do so by chemically altering parts of the DNA that regulate gene expression. These modifications to the genetic code are referred to as “epigenetics.” Epigenetic changes can be acquired via exposure to environmental pollutants, social stress, or lifestyle behaviors. The benefit or harm of these changes depends on the purpose of the gene and how the change alters genetic expression. Communication facilitate from genetic strategies that help people understand and use epigenetic information are needed to (1) translation o epigenetics research to clinical settings, (2) address potentially misleading information the mass media, and (3) prevent the propagation of harmful beliefs associated with epigenetics, such as determinism, essentialism, discrimination, racism, and stigma. Our objective is f to facilitate the translation process by developing epigenetic communication strategies that are understandable and meaningful to socio-demographically diverse audiences, and that minimize harmful beliefs (e.g., determinism). Thespecific aims will: (1)Determine how people come to understand and interpret epigenetics information; (2) Examine the ethical, legal, and social implications (ELSI) of epigenetics for (a) creating or minimizing harmful beliefs and (b) promoting or discouraging acceptance of using epigenetics in clinical settings; (3) identify strategies for communicating information about epigenetics in a way that fosters understanding of epigenetic concepts, minimizes harmful beliefs, and increases acceptance of using epigenetics in clinical settings; and (4) Determine how race, ethnicity, and formal education shape the results of Aims 1-3. We will use an exploratory sequential mixed methods design that includes one qualitative phase followed by two consecutive quantitative phases. The qualitative phase will include 20 focus groups (N=160 total, n=8 per group). The quantitative phases will include a nationally-representative, population-based survey (N=1,870) and a full-factorial experiment to test communication strategies (N=1,954). The of non-Hispanic and participants translation about demographically marginalized public a sample for each phase, which includes members the general public will be stratified to be approximately equally divided by race and ethnicity (i.e., Hispanic, Black, non-Hispanic White, non-Hispanic Asian, non-Hispanic American Indian, Native Hawaiian, other Pacific Islander) and approximately equally divided by formal education (i.e., at least 50% of with no college experience. Our proposed research will overcome a critical barrier to the equitable of basic epigenetics research into clinical and public health practice: limited scientific knowledge how to communicate about epigenetics in way a that is understandable and meaningful to socio- diverse audiences, tha minimizes harmful beliefs, and that includes t he perspectives of populations. Furthermore, our findings could be used as a foundation for research that examines perceptions of other emerging genomics technologies. We will expand our impact further by developing toolkit for disseminating our discoveries. , t