Advancing equitable implementation of genomic medicine in nephrology

促进基因组医学在肾病学领域的公平实施

基本信息

批准号：
10701851
负责人：
Hila Milo Rasouly
金额：
$ 12.92万
依托单位：
COLUMBIA UNIVERSITY HEALTH SCIENCES
依托单位国家：
美国
项目类别：
财政年份：
2022
资助国家：
美国
起止时间：
2022-09-15 至 2027-08-31
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/10701851
关键词：
Acceleration Address Adoption Characteristics Chronic Kidney Failure Clinic Clinical Collaborations Communication Research Communities Competence Data Development Dissemination and Implementation Doctor of Philosophy Educational Status Ensure Environment Equity Ethnic Origin Feasibility Studies Foundations Funding Future Genes Genetic Genetic Counseling Genetic Determinism Genomic medicine Genomics Goals Grant Guidelines Health education Healthcare Systems High Prevalence International Intervention Interview Investments Kidney Kidney Diseases Knowledge Lead Learning Measures Medical Genetics Mentored Research Scientist Development Award Mentors Mentorship Methods National Institute of Diabetes and Digestive and Kidney Diseases Nephrology Online Systems Outcome Participant Pathology Patients Population Prospective Studies Provider Qualitative Research Race Recommendation Research Research Methodology Research Personnel Research Priority Research Training Resources Respondent Strategic Planning Surveys Testing Training Translating United States National Institutes of Health Universities arm clinical care clinical practice cohort computer human interaction design efficacy trial ethical, legal, and social implication ethnic minority experience feasibility testing future implementation genetic counselor genetic disorder diagnosis genetic testing health communication health disparity health equity health literacy implementation framework implementation research implementation science implementation strategy improved innovation kidney biopsy literacy marginalization novel patient engagement patient screening personalized care pilot test point of care post-doctoral training practice setting pragmatic study precision medicine prevent programs prospective public health relevance racial minority screening secondary outcome skills social determinants socioeconomics statistics structural determinants symposium theories tool translational genetics translational genomics uptake

项目摘要

There is an immense national investment in Precision Medicine, however fulfillment of its promises depends on broad utilization of genetic testing among nephrologists and patients, many of whom are from marginalized racial/ethnic minorities. Research demonstrates that genetic forms of kidney disease are relatively prevalent, and their identification can personalize care, yet genetic testing is not part of standard clinical care in nephrology. This K01 proposes to identify the barriers to genetic testing in nephrology at the patient, clinician, and healthcare system levels, and to develop and test possible facilitators. I will use a mixed methods design to collect nuanced, currently unavailable, data on these issues with the goal of informing future implementation guidelines. Aim 1 will assess the rate of adoption of genetic testing in nephrology, and the barriers, facilitators, and acceptability of potential implementation strategies to accelerate the adoption of genetic testing in nephrology. To address the low confidence of nephrologists in genetics—a key barrier in effort to translate knowledge from labs to the clinics—in Aim 2, I will use participatory design to develop a toolbox with the input of both patients and nephrologists. The toolbox will include (i) a self-paced course in clinical renal genetics and external resources, (ii) patient-facing materials with infographics, and (iii) a genetic literacy screen for patients. In Aim 3, I will assess the toolbox’s potential by pilot testing it with nephrologists. This K01 will inform future efficacy trials and lay the foundations for future research on interventions to ensure equitable access to genetic testing. Candidate: I hold a Master in Genetic Counseling, a PhD in genetics and genomics and have a post-doctoral training in renal genomics. To advance the implementation of genomic medicine in nephrology, there is a need for researchers with combined expertise in genetics, nephrology, implementation science, health communication, health equity research, and ethical, legal, and social Implications (ELSI) of genomics. My goal is to develop an independent research program focusing on the novel field of “equitable implementation of genomic medicine in nephrology”. During the K01’s training period, I will: (1) Develop expertise in the theoretical frameworks in implementation science, (2) Become proficient in ELSI and health equity research, (3) Develop expertise in qualitative research methods, (4) Refine my expertise in survey design, (5) Learn health communication research tools and (6) Transition to independence. Environment: To guide and support my research and training goals, I have assembled a strong mentorship team of experts in nephrology and renal genetics (Dr Gharavi, primary mentor), translation of genomics research into clinical practice (Dr Rahm, co-mentor), implementation science (Dr Moise, co-mentor), Equity and ELSI research (Dr Sabatello, co-mentor), health communication and infographics (Dr Bakken, Advisor), and statistics (Dr Ionita-Laza, Advisor). The research will be conducted at Columbia University, which will give me access to extensive research resources and training to help me successfully transition to independence.

国家对精准医疗投入巨额资金，但其承诺的兑现取决于肾病专家和患者广泛使用基因检测，其中许多人来自边缘化群体研究表明，遗传形式的肾脏疾病相对普遍，它们的识别可以个性化护理，但基因检测并不是肾脏病标准临床护理的一部分。本 K01 旨在找出患者、临床医生和医疗保健人员在肾病学领域进行基因检测的障碍系统级别，并开发和测试可能的促进者，我将使用混合方法设计来收集细致入微的、目前无法获得有关这些问题的数据，目的是为未来的实施指南提供信息。将评估肾脏病学中基因检测的采用率，以及障碍、促进因素和可接受性加速肾脏病学基因检测采用的潜在实施策略。肾病学家对遗传学的信心不足——将知识从实验室转化为临床的一个关键障碍诊所——在目标 2 中，我将使用参与式设计来开发一个工具箱，其中包含患者和患者的输入该工具箱将包括（i）临床肾脏遗传学和外部资源的自定进度课程，（ii）带有信息图表的面向患者的材料，以及 (iii) 患者的基因素养筛查在目标 3 中，我将评估患者的遗传素养。通过与肾脏病学家进行试点测试，了解工具箱的潜力，该 K01 将为未来的疗效试验提供信息并奠定基础。确保公平获得基因检测的未来干预研究的基础候选人：我支持。遗传咨询硕士、遗传学和基因组学博士，并接受过肾脏病博士后培训为了推进基因组医学在肾脏病学中的实施，需要研究人员。拥有遗传学、肾病学、实施科学、健康传播、健康公平方面的综合专业知识我的目标是开发一个独立的基因组学研究以及伦理、法律和社会影响（ELSI）。研究项目专注于“公平实施基因组医学”这一新领域在K01的培训期间，我将：（1）发展肾病学理论框架方面的专业知识。实施科学，(2) 精通 ELSI 和健康公平研究，(3) 发展以下方面的专业知识定性研究方法，(4) 提高我在调查设计方面的专业知识，(5) 学习健康传播研究 (6) 过渡到独立性：指导和支持我的研究和培训目标，我组建了一支由肾脏病学和肾脏遗传学专家组成的强大指导团队（Gharavi 博士，初级导师）、将基因组学研究转化为临床实践（Rahm 博士，共同导师）、实施科学（Moise 博士，共同导师）、公平和 ELSI 研究（Sabatello 博士，共同导师）、健康传播和信息图表（Bakken 博士，顾问）和统计数据（Ionita-Laza 博士，顾问）。哥伦比亚大学，它将为我提供广泛的研究资源和培训来帮助我成功过渡到独立。