JANUARY 2011 Harnessing Genomic Technologies Toward Improving Health in Africa: OPPORTUNITIES AND CHALLENGES Recommendations for the Human Heredity and Health in Africa (H3Africa) Initiative to the Wellcome Trust and the National Institutes of Health Harnessing Genomic Technologies Toward Improving Health in Africa: OPPORTUNITIES AND CHALLENGES January 2011 This white paper is a community-generated document outlining the opportunities and challenges for the National Institutes of Health (NIH) and the Wellcome Trust (WT) in creating a genomics-focused, population-based research initiative in Africa. This document discusses problems and solutions for the Human Heredity and Health in Africa (H3Africa) Initiative identified by senior African scientists and others that have worked extensively on the continent. The document was prepared by the H3Africa Working Group, with editing and composition provided by Emmanuel K. Peprah, Ph.D., and Charles N. Rotimi, Ph.D., M.P.H., both of the Center for Research on Genomics and Global Health, National Human Genome Research Institute, NIH. Harnessing Genomic Technologies Toward Improving Health in Africa OPPORTUNITIES AND CHALLENGES CONTENTS I. Executive Summary ...............................................................................................................................................................1 � Background ........................................................................................................................................................................1 � The Role of H3Africa ..........................................................................................................................................................1 � Ethos and Vision for H3Africa ............................................................................................................................................2 � Ethos ............................................................................................................................................................................2 � Vision ..........................................................................................................................................................................2 � Recommendations for H3Africa .........................................................................................................................................2 � Resource Development .................................................................................................................................................2 � Infrastructure ...............................................................................................................................................................2 � Education and Training ................................................................................................................................................2 � Population/Health/Disease Foci ...................................................................................................................................2 � Ethical, Legal, and Social Issues ....................................................................................................................................3 � The Future of H3Africa .....................................................................................................................................................3 � II. Summary Recommendations of the H3Africa Working Groups ...........................................................................................4 � Resources (Internet) ............................................................................................................................................................4 � Infrastructure ......................................................................................................................................................................4 � Education and Training ......................................................................................................................................................4 � Disease Research .................................................................................................................................................................4 � Ethical, Legal, and Social Issues ..........................................................................................................................................4 � Governance.........................................................................................................................................................................4 � III. Harnessing Genomic Technologies Toward Improving Health in Africa: Opportunities and Challenges ..............................5 � 1. The Opportunity of Genomics and Health Research for African Populations ..................................................................5 � 1.1. The Health Burden in Africa .................................................................................................................................5 � 2. Resource Utilization and Development ...........................................................................................................................6 � 2.1. Specific Recommendations for Database Development as a Resource for African Scientists ...................................6 � 3. Infrastructure Development ............................................................................................................................................7 � 3.1. Research Network (Hub and Spoke Model) ..........................................................................................................8 � 3.1.1. African Bioinformatics Network ..................................................................................................................8 � 3.1.2. Incentives for ABN Membership .................................................................................................................8 � 3.1.3. Criteria for a Full Node ...............................................................................................................................9 � 3.1.4. Criteria for an Associate Node .....................................................................................................................9 � 3.1.5. Defining Target Health-Related Areas Where Bioinformatics Can Make an Impact ...................................10 � 3.2. Clinical Centers ..................................................................................................................................................10 � 3.3. Biological Laboratories for Phenotyping, Genotyping, and Sequencing ...............................................................10 � 3.4. Biorepositories.....................................................................................................................................................10 � i Harnessing Genomic Technologies Toward Improving Health in Africa OPPORTUNITIES AND CHALLENGES 4. Education and Training ................................................................................................................................................11 � 4.1. Retention of African Scientists ............................................................................................................................11 � 4.2. Specific Recommendations ..................................................................................................................................11 � 4.2.1. Build an Extensive Skills Base in Africa for the Disciplines Needed for Research Projects ...........................11 � 4.2.2. Hold Annual H3Africa Meetings on the Continent ..................................................................................11 � 5. Population Health and Disease Research .......................................................................................................................12 � 5.1. Comprehensive Evaluation of Human Genetic Variation in African Populations .................................................12 � 5.2. Noncommunicable Diseases ................................................................................................................................12 � 5.2.1. Sickle Cell Disease .....................................................................................................................................13 � 5.2.2. Monogenic Disorders ................................................................................................................................14 � 5.2.3. Stroke ........................................................................................................................................................15 � 5.2.4. Cardiovascular Disease ...............................................................................................................................15 � 5.2.5. Hypertension .............................................................................................................................................16 � 5.2.6. Type 2 Diabetes Mellitus and Obesity ........................................................................................................16 � 5.3. Communicable Diseases ......................................................................................................................................17 � 5.3.1. Tuberculosis ...............................................................................................................................................18