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Genome-wide studies
Current needs for human and medical genomics research infrastructure in low and middle income countries
  1. Diego A Forero1,
  2. Ambroise Wonkam2,
  3. Wei Wang3,4,
  4. Paul Laissue5,
  5. Catalina López-Correa6,
  6. Juan C Fernández-López7,
  7. Raja Mugasimangalam8,
  8. George Perry9
  1. 1Laboratory of Neuropsychiatric Genetics, Biomedical Sciences Research Group, School of Medicine, Universidad Antonio Nariño, Bogotá, Colombia
  2. 2Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa
  3. 3School of Medical Sciences, Edith Cowan University, Joondalup, Australia
  4. 4Beijing Municipal Key Laboratory of Clinical Epidemiology, Capital Medical University, Beijing, China
  5. 5Unidad de Genética, Grupo GENIUROS, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogotá, Colombia
  6. 6Department of Scientific Affairs, Génome Québec, Montréal, Canada
  7. 7Instituto Nacional de Medicina Genómica, Mexico City, Mexico
  8. 8Genotypic Technology Ltd, Bangalore, India
  9. 9College of Sciences, University of Texas at San Antonio, San Antonio, Texas, USA
  1. Correspondence to Professor Diego A Forero, Laboratory of Neuropsychiatric Genetics, Biomedical Sciences Research Group, School of Medicine, Universidad Antonio Nariño, Bogotá, 110231, Colombia; diego.forero{at}uan.edu.co

https://doi.org/10.1136/jmedgenet-2015-103631

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    Genomics has facilitated the identification of a large number of genetic variants that are causal and/or risk factors for both rare and common human diseases. Low and middle income countries (LMIC) represent a large proportion of the human population, with distinct health priorities from the developed world. There have been some initiatives in LMIC focused on medical genomics research. We review successful examples of existing genomics centres in LMIC and suggest some recommendations to develop the research infrastructure that is needed in LMIC. There is an urgent need to improve local infrastructures of many LMIC to carry out medical genomics research.

    The World Bank’s list of countries having reduced income includes 139 countries, which have been classified in six groups (East Asia and Pacific, Europe and Central Asia, Latin America and Caribbean, Middle East and North Africa, South Asia, and Sub-Saharan Africa). In addition, as the total population living in LMIC will increase even more in the following decades, basic health research in these populations is of high global importance.1 ,2

    Due to the high costs of the needed research infrastructure (eg, high technology equipment that cost millions of dollars and scientific personnel with advanced training and experience in those areas), a large number of the human genomic centres around the globe are located in developed countries.1 Indeed, most of the 400 000 human whole-exome sequencing assays expected to be accomplished in 2015 will be performed in developed countries.

    To date, there have been some initiatives in LMIC focused on human and medical genomics research (table 1). In Mexico, the National Institute of Genomic Medicine was created in 2004,3 dedicated to research on diseases with emphasis on the characterisation of population structure of complex traits in admixed populations (type 2 diabetes, hypertension, obesity, cancer).3 India, one …

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