Managing the Uncertainty of Genetic Information in Neonates

项目总结/摘要 培训：本K 01提案的目的是为凯瑟琳·普雷斯卡拉汉博士的职业生涯做好准备， 独立的医生科学家专注于基因检测对危重病患者的伦理和社会影响 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， 新生儿使用定量和定性方法。为此，卡拉汉博士和她的导师团队 我设计了一个职业发展计划，其中包括：（1）导师团队的密集指导， 与卡拉汉博士有成功合作记录的顾问，（2）高级培训， 遗传科学和测试，定性方法和医学模拟，以及（3）创新的研究计划 旨在调查产科医生和新生儿父母如何管理遗传学的不确定性， 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。但在 实践中，许多遗传结果包含大量的不确定性，这可能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。我们对不确定性 影响了遗传学家对遗传信息的使用和交流，也影响了父母对遗传信息的理解。 实践中的信息。卡拉汉博士的指导，混合方法的研究将填补关键需要，以确定 和调解潜在的风险，出现作为生殖学家和父母越来越多地使用不确定的遗传 实践中的结果。目标1将确定幼儿园医生和家长在以下情况下感知到的不确定性类型： 他们收到遗传结果，并研究这种不确定性如何影响对结果的理解和使用。目的2 将评估预后的不确定性对生殖科医生关于遗传信息的咨询的影响 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， 提高对遗传信息和相关不确定性理解并使其标准化 遗传学家生殖学家和父母之间的联系 意义：在结构化的职业发展计划范围内完成这些目标， 博士卡拉汉是一个独立的调查员准备执行NHGRI的愿景，整合复杂的 遗传信息纳入新生儿医学的临床工作流程。本研究的结果将告知R 01 关于验证和传播目标3中开发的遗传信息管理工具的建议。

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.