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Conference Report
OMICS A Journal of Integrative Biology
Volume 20, Number 9, 2016
ª Mary Ann Liebert, Inc.
DOI: 10.1089/omi.2016.0128
Conference Report:
First Pharmacogenetics and Precision Medicine Conference
in Africa (April 7–9, 2016, Cape Town, South Africa)
Collet Dandara,1 Guilherme Suarez-Kurtz,2 and Eleni Aklillu3
Throughout the conference proceedings, I had to remind myself, that, yes, it was happening, the local organizing
committee had done it. Assembling 14 invited guest speakers, 22 oral presenters and 34 posters was no average feat.
Collet Dandara
Chair, Local Organizing Committee
A Conference for All Seasons and Continents
A
frica, the second most populous continent, is
home to the most genetically diverse people on earth
with at least 3000 distinct ethnic groups and more than 2000
languages. Geographic, ethnic and cultural diversity, socioeconomic, scientific, and technological disparities across
Africa should be taken into account in the design, interpretation, and implications of pharmacogenomics studies in this
region. Hence, we are delighted to report on the first pharmacogenetics and precision medicine conference in the
continent, held in Cape Town from April 7 to 9.
The conference covered some of the mentioned pioneering
dimensions that impact pharmacogenetics and precision medicine in the early 21st century. However, the conference also
took on a more global approach on the growing contribution of
genomic information and biotechnology tools to the way innovative medicines are developed, regulated, and prescribed to
patients. Translation of pharmacogenomics into clinical practice was the topic of a keynote lecture and two debate sessions.
A preconference Introductory Course of Bioinformatics was
offered, coordinated by Professor Nicola Mulder (University of
Cape Town, Cape Town, South Africa).
With the theme ‘‘Going back to our roots to find biomarkers
of disease susceptibility and drug response,’’ the First Pharmacogenetics and Precision Medicine conference in Africa
was attended by an audience of nearly 150 delegates from
around the world, including Africa, Brazil, Europe, and the
United States. A presentation by Professor Michele Ramsay
(University of the Witwatersrand, Johannesburg, South Africa)
on ‘‘Mining the African Genome Data for Variants of Pharmacogenomics Relevance’’ opened the conference. Professor
Ramsay presented data analyzing 24 genomes sequenced using whole genome sequencing (WGS) as part of the Southern
African Human Genome Programme (SAHGP) and reported
on the differences in sequences observed among the Zulu,
Sotho, and Coloured populations of South Africa. Pharmacogenomics significance was extrapolated from the observed
differences. The presentation further confirmed the genetic
diversity and heterogeneity among African ethnic groups, even
those in the same geographical area.
The Key Note Plenary address was given to a full-capacity
lecture hall by Professor Munir Pirmohamed (University of
Liverpool, Liverpool, United Kingdom) on ‘‘Genomics and
Therapeutics’’, covering identification of drug targets through
genetic diseases, drugs targeted at specific genetic mutations,
determination of dosages, improvement of drug safety, and the
emerging concept of pre-emptive genotyping on the critical
path to global precision medicine and rational therapeutics.
Professor Pirmohamed underscored the importance of clinical
adoption of pharmacogenomics-informed prescription.
Professor Pirmohamed delivered a second presentation in
the ‘‘Pharmacogenomics of Infectious Disease and Population
Diversity’’ session, which was sponsored by the Pharmacogenetics and Genomics (PGx) Section of the International Union
of Basic and Clinical Pharmacology (IUPHAR). In that section,
three additional invited speakers, Professor Guilherme SuarezKurtz (Chair of the PGx Section, IUPHAR and the National
Coordinator of the Brazilian Pharmacogenomics Network, Rio
de Janeiro, Brazil), Professor Eleni Aklillu (Karolinska Institute,
Stockholm, Sweden), and Professor Collet Dandara (University
of Cape Town), presented. Professor Suarez-Kurtz introduced
the Brazilian Pharmacogenetics Network and discussed the
pharmacogenomics implications of admixture and diversity
among Brazilians, highlighting the difficulty of using race,
ethnic group, and color to capture the diversity of the Brazilian
population, which presents itself as a genetic continuum.
Professor Aklillu presented on the pharmacogenomics of
antiretroviral therapy, the challenges of pharmacogenomics in
the treatment or management of comorbidities such as human
immunodeficiency virus/acquired immunodeficiency syndrome
(HIV/AIDS), tuberculosis, and malaria, the major disease
1
Division of Human Genetics, Department of Pathology and Institute of Infectious Disease and Molecular Medicine, Faculty of Health
Sciences, University of Cape Town, Cape Town, South Africa.
2
Brazilian Pharmacogenomics Network and Division of Pharmacology, Instituto Nacional de Cancer, Rio de Janeiro, Brazil.
3
Division of Clinical Pharmacology, Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden.
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PGX AND PRECISION MEDICINE CONFERENCE IN AFRICA
burdens in Africa. Professor Aklillu reported on key pharmacogenetic studies in different African populations, with a focus
on treatment optimization of HIV/AIDS and its comorbidities
such as tuberculosis. Effect of pharmacogenetic variations on
drug interactions between the first-line antiretroviral regimens
and antituberculosis or antimalarial drugs and their multipronged impacts on the safety and efficacy of HIV and malaria
treatment was presented. Relevance of pharmacogenetics-based
efavirenz dose modification for sub-Saharan African populations was additionally highlighted.
Professor Collet Dandara discussed the parameters for
possible introduction of a pharmacogenomics test for
genotype-assisted dosing of efavirenz, evaluating analytical
attributes, potential impact of this test especially among
African populations, and postanalytic factors such as clinical
validity and clinical utility. The anticipated improvements in
quality of life for patients after such a global health and
precision medicine diagnostic test constituted part of the
presentation and discussion.
The clinical implementation of pharmacogenomics-informed
prescription was also the focus of the talks by Professor Markus
Paulmichl (Paracelsus Medical University, Salzburg, Austria)
who offered an overview of ‘‘Implementation of Pharmacogenomics in the Austrian healthcare system’’, followed by
Professor Minoli Perera (Northwestern University Chicago,
USA), who discussed novel genetic variants that improve the
bleeding risk prediction in warfarin-treated African-Americans.
Professor Andrea Gaedigk (Children’s Mercy Hospital, Kansas
City, MO, USA) covered ‘‘CYP2D6 pharmacogenetics from
WGS to clinical implementation’’, drawing on her distinguished contribution to the pharmacogenomics knowledge and
utility of CYP2D6 genotyping.
Professor Keymanthri Moodley (Stellenbosch University,
Stellenbosch, South Africa) presented on ‘‘Ethical Legal and
Social Implications for Genomic Bio-banking in South
Africa’’ challenging researchers/clinicians on the use of biological material for genetics research. Related to this session
was a presentation by Dr. Gary Kantor (Discovery Health
Insurance, Cape Town, South Africa) on ‘‘Discovery Health
Exome screening project’’, an initiative by Discovery Medical Insurance to sequence exomes of patients in a joint
venture with the Craig Venter’s Institute.
There was a wide range of presentations covering the scope
of diseases that Africa is battling. Professor Ambroise Wonkam
(University of Cape Town) gave a presentation with the title,
‘‘Perspectives on Pharmacogenetics of Sickle Cell Disease,’’
explaining the epidemiology of sickle cell disease and the
pharmacogenomics of hydroxyurea, the only drug used in sickle
cell disease. Among the young scholars and presenters, it was
particularly inspiring to hear the presentation by Dr. Mamadou
Kaba (University of Cape Town) on ‘‘Perspectives on Human
Microbiome Research in Africa,’’ which challenged our human
genetics-centric thinking of pharmacogenomics. His presentation highlighted how disease susceptibility and drug response
are affected by one’s microbiome profile.
Professor Jonathan Blackburn (University of Cape Town,
South Africa) gave a talk on ‘‘Discovery & Validation of
Urinary Biomarkers of Tuberculosis Disease’’. It was noted in
the presentation that proteins could be used as biomarkers of
both disease susceptibility and treatment response. The final
concluding presenter, Professor Robert Wilkinson (Clinical
Infectious Diseases Research Initiative [CIDRI], Cape Town,
497
South Africa), spoke on ‘‘Host Directed Therapies Against
Tuberculosis’’, focused on the deeper understanding that host
genetics could aid in improving drug treatment.
Part of the conference was dedicated to the inaugural African
Pharmacogenomics Consortium meeting that resulted in the
formation of a steering committee, which was confirmed as an
arm of the African Society of Human Genetics, to convene
a month later in Dakar, Senegal. The steering committee
comprised Collet Dandara (South Africa), Mamadou Kaba
(Cameroon), Collen Masimirembwa (Zimbabwe), Eleni Aklillu
(Sweden), Jackson Mukonzo (Uganda), Alice Matimba
(Zimbabwe), Michael Pepper (South Africa), and Sarah El
Jadid (Morocco). The consortium aims to operate along the
lines of the Clinical Pharmacogenomics Implementation Consortium (CPIC) of the Pharmacogenetics Knowledge Base
(PharmGKB) and to draft and deliver state-of-the-art guidelines
for use of pharmacogenomics-based tests in African populations with a view on global precision medicine. It is our
collective hope that the African continent, together with a
global team of dedicated scholars in the field of precision
medicine and its societal and humanities dimensions, will
help catapult precision medicine from theory to practice in
the 21st century.
Author Disclosure Statement
The authors declare that no conflicting financial interests
exist.
Address correspondence to:
Collet Dandara, PhD
Pharmacogenetics Research Group
Division of Human Genetics
Department of Pathology and
Institute of Infectious Disease and Molecular Medicine
Faculty of Health Sciences
University of Cape Town
Anzio Road Observatory 7925
South Africa
E-mail: [email protected]
Eleni Aklillu, BPharm, MSc, PhD
Karolinska Institutet
Karolinska University Hospital
Huddinge C1:68, SE-141 86
Stockholm
Sweden
E-mail: [email protected]
Abbreviations Used
AIDS ¼ acquired immunodeficiency syndrome
CIDRI ¼ Clinical Infectious Diseases Research
Initiative
CYP2D6 ¼ cytochrome P450 2D6
HIV ¼ human immunodeficiency virus
PGx ¼ pharmacogenetics and genomics
PharmGKB ¼ Pharmacogenetics Knowledge Base
SAHGP ¼ South African Human Genome Program
WGS ¼ whole genome sequencing