Advancing equitable implementation of genomic medicine in nephrology

国家在精准医学方面投入了巨大的资金，但其承诺的实现取决于 在肾病学家和患者中广泛使用基因检测，其中许多人来自边缘化群体 种族/少数民族。研究表明，肾脏疾病的遗传形式相对普遍， 并且它们的识别可以个性化护理，然而基因检测不是肾脏病学标准临床护理的一部分。 本K 01建议确定患者、临床医生和医疗保健人员在肾脏病学中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微差别， 目前还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。要求1 将评估肾脏病基因检测的采用率，以及障碍、促进因素和可接受性。 潜在的实施策略，以加快采用基因检测在肾脏病。解决 肾科医生对遗传学的信心不足--这是将实验室知识转化为临床知识的一个关键障碍。 在目标2中，我将使用参与式设计来开发一个工具箱， 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） 面向患者的信息图表材料，以及（iii）患者的遗传扫盲屏幕。在目标3中，我将评估 通过与肾脏病学家进行试点测试，该K 01将为未来的疗效试验提供信息，并奠定基础。 为今后研究确保公平获得基因检测的干预措施奠定了基础。候选人：我持有 遗传咨询硕士，遗传学和基因组学博士学位，并在肾脏病领域接受博士后培训。 基因组学为了推进基因组医学在肾脏病学中的应用，需要研究人员 在遗传学、肾脏病学、实施科学、健康传播、健康公平方面具有综合专长 研究，以及基因组学的伦理、法律的和社会影响（ELSI）。我的目标是发展一个独立的 研究计划侧重于新领域的“公平实施基因组医学， 肾脏病学”。在K 01的培训期间，我将：（1）发展理论框架的专业知识， 实施科学，（2）精通ELSI和健康公平研究，（3）发展专业知识， 质性研究方法，（4）完善我在调查设计方面的专业知识，（5）学习健康传播研究 （6）向独立过渡。环境：指导和支持我的研究和培训目标， 我已经组建了一个强大的肾脏病学和肾脏遗传学专家指导团队（Gharavi博士，主要 导师），基因组学研究转化为临床实践（拉姆博士，共同导师），实施科学 (Dr Moise，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（巴肯博士，顾问）和统计（Ionita-Laza博士，顾问）。该研究将在 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 顺利过渡到独立。

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.