Managing the Uncertainty of Genetic Information in Neonates

管理新生儿遗传信息的不确定性

• 批准号: 10721451
• 负责人: Katharine Press Callahan
• 金额: $ 16.97万
• 依托单位: CHILDREN'S HOSP OF PHILADELPHIA
• 依托单位国家: 美国
• 财政年份: 2023
• 资助国家: 美国
• 起止时间: 2023-07-14 至 2028-05-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10721451
• 关键词: Address; Affect; Caring; Childhood; Clinical; Collaborations; Communication; Complex; Confusion; Counseling; Critical Illness; Data; Decision Making; Development Plans; Diagnostic; Distress; Ethicists; Ethics; Genetic; Genetic Diseases; Genomic medicine; High Prevalence; Infant; Information Management; Interview; Lead; Measures; Mediating; Medical; Medicine; Mentors; Mentorship; Methodology; National Human Genome Research Institute; Neonatal Intensive Care Units; Newborn Infant; Parents; Patients; Physicians; Prognosis; Qualitative Methods; Research; Research Methodology; Research Personnel; Risk; Science of genetics; Scientist; Standardization; Structure; Taxonomy; Testing; Training; Uncertainty; Video Recording; Vision; Visual; analog; career; career development; clinical practice; design; disability; ethical, legal, and social implication; exome sequencing; experience; experimental study; feasibility testing; genetic association; genetic counselor; genetic disorder diagnosis; genetic information; genetic technology; genetic testing; genome sciences; genome sequencing; hazard; improved; individualized medicine; innovation; neonate; prognostic; simulation; social implication; tool; treatment planning; variant of unknown significance

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.

项目摘要/摘要 培训：该K01提案的目的是为Katharine Press Callahan博士做好准备工作的职业 独立的身体科学家专注于重病的基因检测的道德和社会含义 新生儿。她的长期职业目标是对使用基因检测的有影响力的研究 使用定量和定性方法的新生儿。为此，Callahan博士和她的Mentalship团队 已经制定了一项融合的职业发展计划：（1）一组精神团队和 卡拉汉博士与之成功合作的顾问（2） 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 旨在调查新生儿学家和新生儿的父母如何管理通用的不确定性 信息。 研究：基因检测越来越多地用于疾病的新生儿，并有望改善护理。但是，在 练习，许多遗传结果都包含很大的不确定性，这可能导致临床医生和父母 误会或误用的结果，导致偏见的治疗计划。关于多么不确定性知之甚少 影响新生儿学家对遗传信息的使用和交流或父母对此的理解 实践中的信息。卡拉汉博士的修改，混合方法研究将满足确定的关键需求 并调解作为新生儿学家和父母越来越多地使用不确定遗传的潜在风险 导致实践。 AIM 1将确定新生儿学家和父母认为的不确定性类型 他们收到遗传结果并检查这种不确定性如何影响结果的理解和使用。目标2 将评估预后不确定性对新生儿学家对遗传信息的咨询的影响 和潜在的残疾。 AIM 3将开发和初步测试信息管理工具，旨在 改善理解并标准化遗传信息和相关不确定性的沟通 在遗传学家，新生儿学家和父母之间。 意义：在结构化职业发展计划的背景下完成这些目标将准备 Callahan博士是一名独立的研究者 遗传信息到新生儿医学的临床工作流程。这项研究的发现将告知R01 验证和传播目标3中开发的遗传信息管理工具的建议。