Managing the Uncertainty of Genetic Information in Neonates

项目摘要/摘要 培训：本K01提案的目的是为Katharine Press Callahan博士的职业生涯做好准备 独立内科医生兼科学家专注于危重患者基因检测的伦理和社会影响 新生儿。她的长期职业目标是对基因检测的使用进行有影响力的研究 同时使用定量和定性方法的新生儿。为此，卡拉汉博士和她的导师团队 我制定了职业发展计划，其中包括：(1)来自导师团队的密集指导和 与卡拉汉博士有成功合作记录的顾问，(2)高级培训 基因科学和测试、定性方法和医学模拟，以及(3)创新的研究计划 旨在调查新生儿科医生和新生儿父母如何处理遗传的不确定性 信息。 研究：基因检测越来越多地用于患病新生儿，并有望改善护理。但是，在 实践中，许多遗传结果包含很大的不确定性，这可能会导致临床医生和父母 误解或误用结果，导致有偏见的治疗计划。关于不确定性是如何产生的，我们知之甚少 影响新生儿科医生对遗传信息的使用和沟通或父母对此的理解 实践中的信息。卡拉汉博士的有指导的混合方法研究将满足识别 并调解随着新生儿医生和父母越来越多地使用不确定基因而出现的潜在风险 在实践中取得了良好的效果。目标1将确定新生儿专家和父母在以下情况下感知的不确定性的类型 他们接收遗传结果，并检查这种不确定性如何影响对结果的理解和使用。目标2 将评估预后不确定性对新生儿科医生遗传信息咨询的影响 和潜在的残疾。目标3将开发和初步测试一个信息管理工具，旨在 提高对遗传信息及相关不确定性的理解和标准化交流 遗传学家、新生儿专家和父母之间的关系。 意义：在有条理的职业发展计划范围内完成这些目标将为 卡拉汉博士将成为一名独立研究员，准备执行NHGRI整合综合体的愿景 将基因信息纳入新生儿医学的临床工作流程。这项研究的结果将为R01提供信息 关于验证和传播目标3中开发的遗传信息管理工具的提案。

PROJECT SUMMARY/ABSTRACT Training: The purpose of this K01 proposal is to prepare Dr. Katharine Press Callahan for a career as an independent physician-scientist focused on the ethical and social implications of genetic testing for critically ill neonates. Her long-term career objective is to conduct impactful research on the use of genetic testing for neonates using both quantitative and qualitative methods. To this end, Dr. Callahan and her mentorship team have devised a career development plan that integrates: (1) intensive mentorship from a team of mentors and advisors with whom Dr. Callahan has a track record of successful collaboration, (2) advanced training in genetic science and testing, qualitative methods, and medical simulation, and (3) an innovative research plan designed to investigate how neonatologists and parents of neonates manage the uncertainty of genetic information. Research: Genetic testing is increasingly used in ill neonates and holds promise to improve care. However, in practice, many genetic results contain substantial uncertainty, which can lead both clinicians and parents to misunderstand or misapply results, resulting in biased treatment plans. Little is known about how uncertainty affects neonatologists’ use and communication of genetic information or parents’ understanding of this information in practice. Dr. Callahan’s mentored, mixed-methods research will fill the critical need to identify and mediate potential risks that emerge as neonatologists and parents increasingly use uncertain genetic results in practice. Aim 1 will identify the types of uncertainty that neonatologists and parents perceive when they receive genetic results and examine how this uncertainty affects understanding and use of results. Aim 2 will assess the effect of uncertainty about prognosis on neonatologists’ counseling about genetic information and potential disability. Aim 3 will develop and preliminary test an information management tool that aims to improve understanding and standardize communication of genetic information and associated uncertainty between geneticists, neonatologists, and parents. Significance: Completing these aims within the context of a structured career development plan will prepare Dr. Callahan to be an independent investigator poised to execute the NHGRI vision of integrating complex genetic information into the clinical workflow in newborn medicine. Findings from this study will inform an R01 proposal to validate and disseminate the genetic information management tool developed in Aim 3.