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African genomics project takes shape at Cape Town meeting

CAPE TOWN — More than 200 medical populations. For instance, the presence of a researchers met under sunny skies here on duplication within CYP2D6, a gene associated 4 and 5 March to discuss practical ways for with adverse reaction to codeine, a common the African continent to start benefiting from painkiller, varies widely between African advances in genomics. populations, from being totally absent among The meeting’s aim was to inform the design South Africa’s Bantu population to being of the $37 million, five-year Human Heredity present in 29% of Ethiopians and nearly 40% and Health in Africa (H3Africa) initiative. of Algerians. The initiative, funded by the Wellcome Trust, Other studies hint to the danger of using a UK medical research charity, and the US studies on Europeans as a basis for clinical National Institutes of Health (NIH), aims to care in Africa. One paper found that African- bring modern medical technology to bear on Americans had a higher frequency of a Africa’s heavy disease burden. variant in the gene TPMT associated with Africans are extremely genetically deafness induced by the cancer drug cisplatin diverse—yet little is known about this than did people of European ancestry (Nat. variance and its health impact. To date, three Genet. 41, 1345–1349, 2009). With cancer quarters of the thousands of genetics studies cases a “looming epidemic” in Africa, such completed worldwide have been conducted insights are increasingly valuable, says on populations of European descent. Africans Michael Hayden, a geneticist at the University are also poorly represented in international of British Columbia in Vancouver, Canada genetics projects such as the HapMap and who attended the meeting. 1,000 Genomes projects. The H3Africa initiative will build on and

This gap presents both an opportunity and Irene Abdou/Newscom link local research elements, such as the South a challenge for Africa, NIH director Francis African National Bioinformatics Institute Ready for a close-up: Sudanese children. Collins said at the meeting. The rapidly based near Cape Town and the Biosciences falling cost of sequencing and genetic analysis eastern and central Africa Hub based in has put the technology within reach for cash- plug Africa’s genomics knowledge gap by Nairobi, Kenya. strapped African researchers. Moreover, addressing shortfalls in equipment, training “African researchers talk to people in the importance of Africa as the birthplace and regulations. Although the exact remit Europe; they talk to people in the US. But of humanity makes African genetics an for H3Africa remains flexible, a white paper they don’t talk to each other,” Charles Rotimi important and intriguing area of study, he presented at the Cape Town meeting set said at the meeting. “I don’t think this is said. out a number of possible activities for the because they don’t like each other. They are But the continent’s poor health systems— initiative. These include the development of just following the money,” added Rotimi, including scant medical data, low research regional centers of excellence in genotyping director of the NIH's Center for Research on capability and a lack of trained health and sequencing and a continent-wide Genomics and Global Health and one of the © 2011 Nature America, Inc. All rights reserved. All rights Inc. America, Nature © 2011 professionals—means this research effort bioinformatics network. founders of the H3Africa initiative. risks being managed outside the continent, The white paper presented at the meeting he continued. “We need capacity building in Gauging reactions set out some ambitious projects that areas where disease occurs.” Research suggests that reactions to commonly may or may not be funded as part of the The H3Africa initiative plans to help used drugs vary greatly between African initiative. One is a plan to collect samples from 10,000 people—100 individuals from 100 ethnic African populations—to map Moreover, 69 of the primary trials this idea are ongoing within the Cochrane genetic diversity on the continent. Another disclosed at least one author with financial Collaboration, the parent organization is a continental repository to store all the ties to industry, yet none of the meta- that coordinates the publication of many biological samples gathered by the H3Africa analyses reported these disclosures. health-related reviews. project in one place. And whereas 126 of the trials reported But not all investigators agree that more The initial funding will not stretch to pay at least one author being employed by guidelines are needed. “Meta-analyses for all these projects, but the funders want the pharmaceutical industry, none of the are already so onerous to read,” says Colin H3Africa to act as an umbrella that will meta-analyses made mention of these ties. Baigent, an expert in clinical trial design enable others to step in and sponsor projects, To create more transparency, Thombs at the University of Oxford, UK. Instead, making use of H3Africa infrastructure. “I and his colleagues suggest developing Baigent argues that judgments about think lots of funders will be interested in disclosure guidelines for financial disclosing conflicts should rest with authors using the H3Aafrica network in specific conflicts for meta-analyses. According to and reviewers. “There is a whole industry disease areas,” said Collins. Ciprian Jauca, a managing editor at the generating rules about meta-analyses and it H3Africa’s first call for proposals is due Cochrane Hypertension Review Group in is already so challenging,” he says. in early summer, and the first awards are Vancouver, Canada, discussions about Nazlie Latefi expected to be announced next year. Linda Nordling

nature medicine volume 17 | number 4 | april 2011 401