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中调节疾病的部分 基因表达。这些对遗传密码的修改被称为“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。收益或 这些变化的危害取决于基因的目的以及这种变化如何改变基因表达。 沟通 利便 从… 遗传 帮助人们理解和使用表观遗传信息的策略是必要的(1) 将表观遗传学研究转化为临床环境，(2)解决潜在的误导性信息 大众媒体，以及(3)防止传播与表观遗传学有关的有害信仰，如 决定论、本质论、歧视、种族主义和耻辱。我们的目标是 F 为了方便 通过制定可理解和可理解的表观遗传沟通策略来实现翻译过程 对社会人口结构不同的受众有意义，并尽量减少有害信仰(例如，决定论)。 具体的目标将：(1)决定人们如何理解和解释表观遗传学信息；(2) 研究表观遗传学对以下方面的伦理、法律和社会影响(ELSI)：(A)产生或减少有害影响 信仰和(B)促进或不鼓励在临床环境中使用表观遗传学；(3)确定 以促进对表观遗传学理解的方式交流表观遗传学信息的策略 概念，最大限度地减少有害信念，并提高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。我们将使用一种探索性的 包括一个定性阶段和两个连续定量阶段的序贯混合方法设计 阶段。定性阶段将包括20个重点小组(总共160个，每组8个)。量化的 阶段将包括具有全国代表性的基于人口的调查(N=1,870)和全面因素调查 测试沟通策略的实验(N=1,954)。这个 的 非西班牙裔美国人 和 参与者 翻译 关于 从人口统计角度看 边缘化 公共的 一个 每个阶段的样本，其中包括成员 普通公众将被分层，按种族和民族大致平均划分(即西班牙裔， 黑人，非西班牙裔白人，非西班牙裔亚洲人，非西班牙裔美国印第安人，夏威夷土著， 其他太平洋岛民)，并按正规教育大致平均分配(即至少50% 没有上过大学的经验。我们提议的研究将克服公平竞争的关键障碍 临床和公共卫生实践中的基础表观遗传学研究：有限的科学知识 如何以一种可理解的、对社会有意义的方式交流表观遗传学 多样化的受众，将有害的信仰降至最低，这包括 人口。此外，我们的发现可以作为研究的基础 对其他新兴基因组学技术的看法。我们将进一步扩大影响，通过发展 传播我们发现的工具包。 ， T

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