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Precision Medicine


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10 Saul, S. F.D.A.Approves a Heart Drug for African- Americans.The NewYork Times (2005). 11 Hawkins-Taylor,C and Carlson,AM.Communication Strategies Must BeTailored to a Medication’sTargeted Population: Lessons from the Case of BiDil.Am Health Drug Benefits 6, 401-412 (2013). 12 Krimsky, S.The short life of a race drug.The Lancet 379, 114-115 (2012). 13Wadelius,M and Pirmohamed,M. Pharmacogenetics of warfarin: current status and future challenges.The Pharmacogenomics Journal 7, 99-111 (2007). 14 Stewart,C and Pepper,MS. Cystic Fibrosis in the African Diaspora.Annals ATS 14, 1–7 (2016). doi: 10.1513/AnnalsATS.201606- 481FR. 15 Lek,M et al.Analysis of protein-coding genetic variation in 60,706 humans. Nature 536, 285-291 (2016) doi:10.1038/nature19057. 16 Popejoy,AB and Fullerton, SM.Genomics is failing on diversity.Nature News 538, 161 (2016). 17 Skyers, S. 100,000 Genomes Project – Black African and Black Caribbean Communities:A Qualitative Exploration ofViews on Participation.Genomics England (2018) Available online: http://bit.ly/ 100KBlackCommunities (full URL: https://www.genomics england.co.uk/wp- content/uploads/2018/07/black -african-black-caribbean- communities-participation- 100kgp.pdf). 18 Corbie-Smith,G,Thomas, SB and George,DMMS. Distrust, Race, and Research. Arch Intern Med 162, 2458– 2463 (2002). 19 Kaiser, J.NIH says its 1- million-person health study is off to good start. Science (2019). doi:10.1126/science. aax9741.


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to sign up, share health records on a secure site and volunteer to provide blood and urine samples. This will provide AllOf Us with a collection of informa- tion that links genetics to health. To ensure that it is reaching a wider cross section of the population than previous genetic studies, the NIH is actively engaging with minority groups, such as churches and community associations that bring together African American or Hispanic ancestry groups. As of May 2019, 143,000 people have already taken part in All Of Us and more than half of them are from ethnic minority groups19. But All Of Us is still not reaching everyone in the


US. Native Americans have expressed concern that the NIH had not consulted them before launching the programme20. They worried that people could be identified based on their DNA if they are from a very small tribe, or that findings from Native American individuals could lead to new treatments that would benefit companies more than the tribes that provided the information. In response to the concerns, All Of Us is now holding formal meet- ings with tribal leaders. Involving communities directly and early in the


process is thought to be an effective method to engage under-represented groups with genetic research. This community-driven approach is adopted by several other initiatives that are also trying to bring more diversity to genetic databases. Organisations such as Human Heredity & Health in Africa (H3Africa) and Global Gene Corp are expanding genetic knowledge of global popula- tions by working directly with researchers in coun- tries where people are most affected by the current gap in genomic data and insights. The African Society of Human Genetics


launched H3Africa in 2010 to increase participa- tion in genetic research on the African continent. Funded byWellcome and the NIH, it provides sup- port to African researchers to carry out genetics research within the continent, rather than relying on studies from Europe or North America. Since launch it has processed samples of more than 70,000 research participants across different coun- tries in Africa, for studies that are directly relevant to the health of these populations21. For example, a recent H3Africa project uncovered that certain variants of the gene APOL1, normally associated with chronic kidney disease, are linked to an increased incidence of stroke among indigenous West Africans22. Studying African genetics benefits people outside


of the continent as well, such as the 75 million African Americans in the United States. In addi- tion, because all humans ultimately originated


from Africa, genomes from this continent may hold valuable information for everyone. As part of their mission to democratise health-


care through genomics, Global Gene Corp has launched India’s largest DNA sequencing pro- gramme23. Currently, the 1.3 billion people living in Indiamake up 20%of the global population but represent less than 2% of genetic studies. The Indian diaspora also makes up a significant part of the global population, with an estimated 30 mil- lion people of Indian origin living in other coun- tries. By matching de-identified medical records to genomic sequencing data, this project is expanding the genetic dataset of people of Indian descent and providing vital insights for the pharmaceutical industry. The company is also using the data to build an evolving personalised pharmacogenomics app (ggcMETM) that is tailored to the Indian pop- ulation. Another initiative is the collaboration between


Global Gene Corp, the University of Namibia and the Namibian Ministry of Higher Education, Training and Innovation. In November 2018 it announced a new national genomic initiative in the country24, aiming to build a framework for genomic research and improve precision medicine. Future plans also include setting up a Centre of Excellence in Genomics in Namibia, providing training programmes to build local capacity and expertise in this fast-growing field. The twomillion people in this country represent several ethnic groups and tribes that are currently underserved by available genetic medicine. However, implementing genetic testing and


genomics research in healthcare systems around the world is not simply amatter of directly copying existing systems from European or North American countries. One recent example of this localisation comes from a project to establish such a system in Singapore, which took local cultures and attitudes to preventive healthcare into account and adapted the process accordingly25.


Democratising healthcare can expand the reach of precision medicine Merely increasing diversity in global genetic databases is not enough to close the healthcare inequality gap. Access to healthcare has long been a challenge in many countries, particularly in rural areas. How can people living in remote regions of Africa receive adequate healthcare if the only hos- pitals are in cities? This challenge must be met to ensure that the benefits of precision medicine are opened up to a truly global market, not just the minority with European ancestry.


Drug DiscoveryWorld Summer 2019


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