Genetic Testing for Accurate Diabetes Differentiation in Nigeria

尼日利亚用于准确区分糖尿病的基因检测

• 批准号: 9402137
• 负责人: Williams Onabumeh Balogun
• 金额: $ 7.25万
• 依托单位: COLLEGE OF MEDICINE, UNIVERSITY OF IBADAN
• 依托单位国家: 美国
• 财政年份: 2017
• 资助国家: 美国
• 起止时间: 2017-08-22 至 2022-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9402137
• 关键词: Address; Africa; African; Age-Years; Americas; Area; Attitude; Attitude to Health; Award; Awareness; Bioinformatics; Centers of Research Excellence; Chicago; Cities; Clinic; Clinical; Competence; Complex; Consultations; Course Content; DNA sequencing; Decision Analysis; Detection; Developed Countries; Developing Countries; Development; Diabetes Mellitus; Diagnosis; Disease; Eligibility Determination; Frequencies; Future; Genes; Genetic Research; Genetic Services; Genetic screening method; Genomic medicine; Genomics; Genotype; Goals; Grant; Guidelines; Health Personnel; Health Professional; Hospital Administration; Human Resources; Institution; Insulin-Dependent Diabetes Mellitus; Knowledge; Lead; Leadership; Learning; Life; Link; Mentorship; Molecular; Molecular Diagnostic Techniques; Motivation; Nigeria; Nigerian; Non-Insulin-Dependent Diabetes Mellitus; Outcome; Patients; Pattern; Perception; Phenotype; Physicians; Population; Public Health; Research; Research Personnel; Research Training; Resources; Scientist; Seeds; South Africa; Specimen; Surveys; Test Result; Testing; Time; Training; Training Programs; Translating; United States National Institutes of Health; Universities; Variant; accurate diagnosis; biobank; biomedical referral center; career; clinical practice; design; diabetes mellitus genetics; diabetic patient; experience; genetic variant; genome wide association study; improved; interest; low and middle-income countries; maltreatment; molecular diagnostics; personalized diagnostics; programs; prototype; screening; skills; support tools; tool; translational genomics; translational impact

PROJECT /SUMMARY ABSTRACT My prior training and exposures linked with my long-term goal makes this K43 Emerging Global Award for Developing Countries the ideal opportunity for me to realise my aspiration as an independent researcher in the field of translational genomics in non-communicable diseases. Genetic research in the area of NCDs in general, but particularly in diabetes is very sparse in Africa. I was however opportuned to be part of the only notable diabetes genetic project in West Africa, the Africa America Diabetes Mellitus Study, by which the seed of my interest in genetic research was cultivated. Recently, through the NIH D43 collaborative research-training programme between University of Ibadan and University of Chicago, I was exposed further to the impact of genomics advances in improving diagnostic precision of diabetes. In order to advance my career as independent investigator, I now ask whether acquisition of competency in diagnostic molecular genomics in NCDs, and its application in the clinic setting, can translate into improved diagnostic precision of diabetes, particularly detection of monogenic cause of diabetes as a test case. Non-communicable diseases (NCDs) such as diabetes have devastating consequences on African nations such as Nigeria. Contributing to this is very little access to genetic testing resulting in misdiagnosis or, in some cases like monogenic diabetes (MD), non-diagnosis. Consequently, the proportion, spectrum and pattern of undiagnosed MD among patients with commoner types of diabetes in Nigeria remain unknown. It is not known whether identifying and addressing physicians' related barriers to genetic testing could facilitate genotypic description of MD in Nigeria, as a prototype for application of genetic testing to other NCDs. My overall objective for this K43 application is to describe the frequency and spectrum of genetic variants of MD in Nigeria, while I obtain training and competency in diagnostic molecular genomics focused on NCDs, so as to improve diagnostic precision of these conditions and thereby make Ibadan, Nigeria, a referral center for the entire West Africa. My hypothesis is that physicians' related factors constitute significant barriers to application and utility of genetic testing in the clinic, with consequent undiagnosed or misdiagnosed MD among patients with diabetes in Nigerian, who are likely to have different genotypic variants compared to other population. In the research plan, I describe the three specific aims that need to be achieved in the Nigerian setting to move from non-application of genetic testing in the clinic to using the outcome of genetic testing to describe the genotypic spectrum of a previously undiagnosed condition such as MD in Nigeria. The knowledge and experience gained can then be extended to other NCDs and, through training of others, increase capacity and impact the whole of West Africa. First, there is need to identify physicians' related barriers by carrying out surveys among eligible doctors practicing in public health institutions in Ibadan. Secondly, I plan to develop and implement a genomics programme to diagnose and classify diabetes in the clinic through design of a practical, contextualised decision support tool for physicians. Lastly, using a two-step strategy of screening likely patients by a practical guideline and sequencing DNA of selected patients, I will then describe the frequency, spectrum and genotypic pattern of MD among clinic patients with diabetes. In order to be successful at application of genomics to improve diagnostic precision of NCDs in Nigeria, I need further training in genomics, bioinformatics as well as leadership skills required to build a RCE in a LMIC. I have identified and assembled a mentorship committee in these areas and together we have planned a curriculum of courses training programme that will lead me to this end. The K43 award will enable me to develop the competency to independently carry out phenotype-genotype matching in NCDs, and make Ibadan a referral and training centre for other parts of West Africa.

项目/摘要 我之前的培训和与我的长期目标相关的接触使这个K43新兴全球奖成为 发展中国家的理想机会，我实现我的愿望，作为一个独立的研究人员， 非传染性疾病的转化基因组学领域。非洲非传染性疾病领域的基因研究 一般来说，但特别是糖尿病在非洲非常罕见。然而，我有机会成为唯一一个 西非著名的糖尿病遗传项目，非洲-美洲糖尿病研究， 我对基因研究的兴趣的种子被培养了起来。最近，通过NIH D43合作， 伊巴丹大学和芝加哥大学之间的研究培训项目，我被曝光 进一步说明基因组学进步对提高糖尿病诊断精确度的影响。为了 作为一名独立的调查员，我现在问，获得诊断能力是否 非传染性疾病的分子基因组学及其在临床环境中的应用，可以转化为改进的诊断， 糖尿病的精确性，特别是作为测试案例的糖尿病的单基因原因的检测。 糖尿病等非传染性疾病对非洲国家造成破坏性后果 例如尼日利亚。造成这种情况的原因是很少有机会进行基因检测，导致误诊， 一些病例如单基因糖尿病（MD），无诊断。因此，比例，频谱和 在尼日利亚的普通型糖尿病患者中未确诊的MD的模式仍然未知。它 目前尚不清楚识别和解决医生对基因检测的相关障碍是否可以 促进尼日利亚MD的基因型描述，作为将基因检测应用于其他 非传染性疾病我对K43应用程序的总体目标是描述遗传频率和频谱， 我在尼日利亚获得了MD变种，而我则获得了诊断分子基因组学方面的培训和能力 以提高对这些疾病的诊断准确性，从而使尼日利亚的伊巴丹成为一个 整个西非的转诊中心我的假设是，医生的相关因素构成了 基因检测在临床中的应用和效用的重大障碍， 在尼日利亚的糖尿病患者中误诊为MD，这些患者可能具有不同的基因型 与其他人群相比。 在研究计划中，我描述了在尼日利亚环境中需要实现的三个具体目标， 从临床上不应用基因检测到使用基因检测的结果来描述 以前未诊断的疾病（例如尼日利亚的MD）的基因型谱。的知识和 然后，可以将获得的经验推广到其他非传染性疾病，并通过培训其他人，提高能力 影响整个西非首先，需要通过携带来识别医生的相关障碍 在伊巴丹的公共卫生机构执业的合格医生中进行了调查。其次，我计划 制定和实施基因组学方案，通过以下方式在诊所对糖尿病进行诊断和分类： 为医生设计一个实用的、情境化的决策支持工具。最后，采用两步战略 通过一个实用的指南筛选可能的患者，并对选定的患者进行DNA测序，然后我将 描述MD在临床糖尿病患者中的频率、谱和基因型模式。 为了成功应用基因组学提高尼日利亚非传染性疾病的诊断精度，我 需要在基因组学，生物信息学以及领导技能方面进行进一步的培训，以建立一个RCE LMIC。我已经在这些领域确定并组建了一个指导委员会， 我计划了一个课程培训方案的课程表，以实现这一目标。K43奖项将 使我能够发展独立进行非传染性疾病表型-基因型匹配的能力， 并使伊巴丹成为西非其他地区的转诊和培训中心。