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CVJAFRICA • Volume 26, No 2, H3Africa Supplement, March/April 2015
AFRICA
S3
Editorial
H3Africa comes of age
George A Mensah, Emmanuel K Peprah, Uchechukwu KA Sampson, Richard S Cooper
With the advent of technology that made possible large-scale
sequencing and genotyping studies, it quickly became apparent
that the demographic history of our species had been recorded
in the genome and we could reconstruct our wanderings across
the globe by studying DNA. While the vast majority of
genetic variation is shared among continental populations, the
most prominent finding from these early surveys of regional
populations was the substantially greater degree of heterozygosity
found in contemporary African populations.
1
The ‘out of Africa’
story has long been a central dogma in paleoanthropology, and
the rich cultural and linguistic heritage of the continent has also
been well documented; yet the implications of this phase of
human history for biomedicine had never been fully appreciated.
Major research endeavours, including the HapMap
Project,
2
the 1,000 Genomes,
3
and more recently the African
Genome Diversity Project,
4
have exhaustively demonstrated
that African populations exhibit greater sequence variation,
shorter population-shared haplotype lengths, and less linkage
disequilibrium than other continental groups, all a result of
the long history of human occupation of sub-Saharan Africa
(SSA).
2-4
At the same time, the biomedical research community
was confronted with the glaring reality that genetic research
on both normal phenotypic traits as well as conditions of
medical interest had been grossly neglected in Africa. As a
result, in 2010, the US National Institutes of Health and the
UK Wellcome Trust joined forces to launch an unprecedented
research programme, now known as
Human Heredity and
Health in Africa, or H3Africa.
5
H3Africa has established an ambitious agenda that includes
not only large-scale, disease-specific research projects but
training and capacity development as well. In this special issue
of
Cardiovascular Journal of Africa,
some of the initial efforts
of the disease-oriented programme of H3Africa are described.
The articles document the enormous effort contributed by
staff at the NIH and the Wellcome Trust and teams of scientists
in Africa and their collaborators in Europe and North America
to bring state-of-the art genomic science to Africa. These reports
primarily reflect presentations that were made at the 30 May
2014 workshop of the H3Africa cardiovascular disease (CVD)
working group held in conjunction with the fourth H3Africa
consortium meeting in Cape Town, South Africa.
6
The primary workshop objectives were to review the burden
of CVD in sub-Saharan Africa, advance our understanding of
the genetic underpinnings of the major CVDs in Africa, and
strengthen collaborations among the H3Africa research teams
and other researchers using novel genomic and epidemiological
tools in the assessment of CVD in Africa.
6
As is readily apparent,
CVD research consortia sponsored by H3Africa are well on their
way to becoming mature international collaborations that are
capable of coordinating recruitment of participants, phenotype
characterisation and analysis of genetic variation and other key
physiological traits.
Defining the historical and biomedical contest
for H3Africa
H3Africa has taken on a series of daunting challenges. As
confirmed above, however, the record of accomplishment on
display in the collection of reports in this issue demonstrate that
progress is being made – both to create a coherent intellectual
framework for the research that has been initiated and to build a
structure that can carry out the complex logistical and laboratory
tasks that the work scope demands. However H3Africa has set an
even higher standard against which it will ultimately be judged.
While dedicated to capacity building and the application of the
powerful new tools of genomics on the continent, as described
in the White Paper,
7
written at the launch of H3Africa, there is
also a clear recognition that in a region of the world with limited
resources for biomedical research and healthcare delivery, all
scientific ventures in SSA must take account of this context of
under-development. This perspective was clearly articulated in
the final paragraph of the H3Africa White Paper
7
Genomics is under increasing pressure to demonstrate the
value of the enormous investment… that have been made (and
must) accept a direct comparison to epidemiology and public
health as weapons to improve human health… Nowhere will
this competition be more difficult than in Africa.
7
For research in CVD, the bar in terms of the competition
for relative efficacy is raised even higher than for many other
diseases. In the last half-century, epidemiology has provided
a near-complete description of the environmental factors that
cause common CVD, and both preventative and therapeutic
measures with great efficacy have been identified.
Wide implementation of these prevention and treatment
strategies in most industrialised countries has led to dramatic
declines in both coronary heart disease and stroke mortality of
60–80% in the last 50 years.
8,9
At least half of the decline in CVD
Center for Translation Research and Implementation
Science (CTRIS), National Heart, Lung, and Blood Institute,
National Institutes of Health, Bethesda, Maryland, USA
George A Mensah, MD,
George.Mensah@nih.govEmmanuel K Peprah, PhD
Uchechukwu KA Sampson, MD
Department of Public Health Sciences, Stritch School of
Medicine, Loyola University, Chicago, Maywood, Illinois, USA
Richard S Cooper, MD