Survey
* Your assessment is very important for improving the workof artificial intelligence, which forms the content of this project
* Your assessment is very important for improving the workof artificial intelligence, which forms the content of this project
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. 496 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