Advancing equitable implementation of genomic medicine in nephrology

国家在精密医学上有巨大的投资，然而它的承诺的兑现取决于 基因检测在肾病学家和患者中的广泛应用，他们中的许多人来自边缘 少数族裔。研究表明，肾脏疾病的遗传形式相对普遍， 他们的身份识别可以个性化护理，然而基因测试并不是肾病标准临床护理的一部分。 本K01建议在患者、临床医生和医疗保健人员中确定肾脏病基因检测的障碍 系统层面，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微差别， 目前没有关于这些问题的数据，目的是为今后的执行准则提供信息。目标1 将评估基因检测在肾脏病中的采用率，以及障碍、促进者和可接受性 制定潜在的实施战略，以加速在肾脏病中采用基因检测。致信地址 肾病学家对遗传学的信心不足--这是将实验室的知识转化为 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 肾病学家。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) 面向患者的材料和信息图表，以及(Iii)患者的遗传识字屏幕。在目标3中，我将评估 通过与肾病学家进行试点测试，工具箱的潜力。这款K01将通知未来的疗效试验，并为 为今后关于确保公平获得基因检测的干预措施的研究奠定基础。候选人：我持有 遗传咨询硕士，遗传学和基因组学博士，并接受过肾脏博士后培训 基因组学。为了推进基因组医学在肾脏病中的实施，需要研究人员 拥有遗传学、肾病学、实施科学、健康传播、健康公平等方面的综合专业知识 研究以及基因组学的伦理、法律和社会影响(ELSI)。我的目标是发展一个独立的 致力于“公平实施基因组医学”这个新领域的研究计划 肾脏学“。在K01‘S培训期间，我将：(1)在 实施科学，(2)精通ELSI和健康公平研究，(3)发展专门知识 质的研究方法，(4)提炼我在调查设计方面的专业知识，(5)学习健康传播研究 工具和(6)向独立的过渡。环境：指导和支持我的研究和培训目标， 我组建了一个由肾病学和肾脏遗传学专家组成的强大导师团队(Gharavi博士，初级 导师)，将基因组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)，Equity和ELSI Research(Sabatello博士，共同导师)，健康传播和 信息图表(巴肯博士，顾问)和统计(Ionita-Laza博士，顾问)。这项研究将在 哥伦比亚大学，这将使我获得广泛的研究资源和培训，以帮助我 成功过渡到独立。

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.