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.

项目概要/摘要 培训：本 K01 提案的目的是让凯瑟琳·普雷斯·卡拉汉 (Katharine Press Callahan) 博士为职业生涯做好准备 独立医师科学家专注于危重疾病基因检测的伦理和社会影响 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。 为此，卡拉汉博士和她的指导团队使用定量和定性方法对新生儿进行研究。 制定了职业发展计划，其中包括：（1）来自导师团队的强化指导和 卡拉汉博士与其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) 创新研究计划 旨在研究新生儿科医生和新生儿父母如何应对遗传的不确定性 信息。 研究：基因检测越来越多地用于患病新生儿，有望改善护理。 在实践中，许多基因结果包含很大的不确定性，这可能导致参议员和家长 误解或误用结果，导致治疗计划存在偏差，但人们对不确定性知之甚少。 影响新生儿科医生对遗传信息的使用和交流或父母对此的理解 卡拉汉博士指导下的混合方法研究将满足识别的关键需求。 并调解随着新生儿科医生和父母越来越多地利用遗传不确定性而出现的潜在风险 目标 1 将确定新生儿科医生和家长在何时感知到的不确定性类型。 他们收到基因结果并检查这种不确定性如何影响目标 2 的理解和使用。 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 目标 3 将开发并初步测试一种信息管理工具，旨在 提高对遗传信息和相关不确定性的理解并使其沟通标准化 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为 卡拉汉博士将成为一名独立调查员，准备执行 NHGRI 整合复杂的愿景 这项研究的结果将为 R01 提供信息。 建议验证和传播目标 3 中开发的遗传信息管理工具。