Engaging adolescents in decisions about return of genomic research results

项目摘要：本研究的目的是评估同意和同意 青少年对学习基因组研究成果的选择。我们将完善现有的决定 通过使用focus促进知情基因组决策的工具和流程 从现有的基因组研究中招募的青少年和父母组成的小组， 多样化，医疗服务不足的社区，以评估是否以及如何招募途径 参与基因组研究的影响、感知价值、风险和收益以及 个人基因组信息。一旦这些材料被提炼，同意的青少年 年龄在18-21岁之间，同意年龄在13-17岁之间的青少年及其父母 （同意的青少年可选）将被邀请使用电子 使用两个不同的基因组测序面板进行实际结果返回研究的决策工具。 涉及青少年、父母（如适用）和研究团队的联合决策过程 会员将协助确认选择。还将要求一部分青少年 反思他们选择学习的遗传结果，影响他们选择的因素， 深度访谈中的决策稳定性。基因组研究结果将返回， 反映参与者的选择。调查和面谈将在下列人员返回后进行： 结果，以评估参与者的理解，感知的风险和利益，心理社会和 行为影响，以及决策后悔是否与决策稳定性相关。 在整个研究过程中，与青少年偏好有关的法律的、伦理的和社会问题 将探讨对基因组研究成果返还的反应，包括规范 评估经验性结果以及人口一级的效用和影响， 青少年参与决策过程。本研究的发现将有助于填补 关于让青少年参与学习基因组学的决定的文献中存在重大空白 研究成果，并将有助于为青少年提供最佳做法。这 鉴于美国医学院最近的建议， 遗传学将儿童的成人发病情况结果返回给父母的任何时候的整个外显子组 或进行基因组测序。这项研究的结果也将有助于为日益增长的 期望大规模地返回研究结果，需要检查 研究结果的道德回报与从各种环境中招募的一系列人群。

PROJECT ABSTRACT: The purpose of this study is to assess assenting and consenting adolescents’ choices about learning genomic research results. We will refine existing decision tools and processes to promote informed genomic decision-making through the use of focus groups with adolescents and parents recruited from an existing genomic research study and a diverse, medically-underserved community to assess whether and how recruitment pathways impact perceived value, risks, and benefits of participation in genomic research and return of personal genomic information. Once these materials have been refined, consenting adolescents between the ages of 18-21, assenting adolescents between the ages of 13-17, and their parents (optional for consenting adolescents) will be invited to make choices using an electronic decision tool for an actual return of results study using two different genome sequencing panels. A joint decision-making process involving adolescents, a parent (if applicable), and a study team member will facilitate confirmation of choices. A subset of adolescents will also be asked to reflect upon the genetic results they chose to learn, factors that impacted their choices, and decision-stability during in-depth interviews. Genomic research results will be returned that reflect the participants’ choices. Surveys and interviews will be conducted following return of results to assess participants’ understanding, perceived risks and benefits, psychosocial and behavioral impact, and whether decisional regret is associated with decisional stability. Throughout the study legal, ethical, and social issues pertaining to adolescents’ preferences and responses to return of genomic research results will be explored, including normative assessments of empirical findings as well as the population-level utility and impact of involving adolescents in the decision-making process. Findings from this study will contribute to filling a critical gap in the literature regarding engaging adolescents’ in the decision to learn genomic research results, and will help inform best practices with adolescent populations. This information is critical given recent recommendations by the American College of Medical Genetics to return children’s results for adult onset conditions to parents’ anytime whole exome or genome sequencing is performed. Findings from this study will also help inform a growing expectation to return research results on a large-scale basis, necessitating examination of ethical return of research results with a range of populations recruited from a variety of settings.