"Harnessing genomics to improve health in India" – an executive course to support genomics policy

BACKGROUND: The benefits of scientific medicine have eluded millions in developing countries and the genomics revolution threatens to increase health inequities between North and South. India, as a developing yet also industrialized country, is uniquely positioned to pioneer science policy innovations to narrow the genomics divide. Recognizing this, the Indian Council of Medical Research and the University of Toronto Joint Centre for Bioethics conducted a Genomics Policy Executive Course in January 2003 in Kerala, India. The course provided a forum for stakeholders to discuss the relevance of genomics for health in India. This article presents the course findings and recommendations formulated by the participants for genomics policy in India. METHODS: The course goals were to familiarize participants with the implications of genomics for health in India; analyze and debate policy and ethical issues; and develop a multi-sectoral opinion leaders' network to share perspectives. To achieve these goals, the course brought together representatives of academic research centres, biotechnology companies, regulatory bodies, media, voluntary, and legal organizations to engage in discussion. Topics included scientific advances in genomics, followed by innovations in business models, public sector perspectives, ethics, legal issues and national innovation systems. RESULTS: Seven main recommendations emerged: increase funding for healthcare research with appropriate emphasis on genomics; leverage India's assets such as traditional knowledge and genomic diversity in consultation with knowledge-holders; prioritize strategic entry points for India; improve industry-academic interface with appropriate incentives to improve public health and the nation's wealth; develop independent, accountable, transparent regulatory systems to ensure that ethical, legal and social issues are addressed for a single entry, smart and effective system; engage the public and ensure broad-based input into policy setting; ensure equitable access of poor to genomics products and services; deliver knowledge, products and services for public health. A key outcome of the course was the internet-based opinion leaders' network – the Indian Genome Policy Forum – a multi-stakeholder forum to foster further discussion on policy. CONCLUSION: We expect that the process that has led to this network will serve as a model to establish similar Science and Technology policy networks on regional levels and eventually on a global level

How can developing countries harness biotechnology to improve health?

<p>Abstract</p> <p>Background</p> <p>The benefits of genomics and biotechnology are concentrated primarily in the industrialized world, while their potential to combat neglected diseases in the developing world has been largely untapped. Without building developing world biotechnology capacity to address local health needs, this disparity will only intensify. To assess the potential of genomics to address health needs in the developing world, the McLaughlin-Rotman Centre for Global Health, along with local partners, organized five courses on Genomics and Public Health Policy in the developing world. The overall objective of the courses was to collectively explore how to best harness genomics to improve health in each region. This article presents and analyzes the recommendations from all five courses.</p> <p>Discussion</p> <p>In this paper we analyze recommendations from 232 developing world experts from 58 countries who sought to answer how best to harness biotechnology to improve health in their regions. We divide their recommendations into four categories: science; finance; ethics, society and culture; and politics.</p> <p>Summary</p> <p>The Courses' recommendations can be summarized across the four categories listed above:</p> <p>Science</p> <p>- Collaborate through national, regional, and international networks</p> <p>- Survey and build capacity based on proven models through education, training, and needs assessments</p> <p>Finance</p> <p>- Develop regulatory and intellectual property frameworks for commercialization of biotechnology</p> <p>- Enhance funding and affordability of biotechnology</p> <p>- Improve the academic-industry interface and the role of small and medium enterprise</p> <p>Ethics, Society, Culture</p> <p>- Develop public engagement strategies to inform and educate the public about developments in genomics and biotechnology</p> <p>- Develop capacity to address ethical, social and cultural issues</p> <p>- Improve accessibility and equity</p> <p>Politics</p> <p>- Strengthen understanding, leadership and support at the political level for biotechnology</p> <p>- Develop policies outlining national biotechnology strategy</p> <p>These recommendations provide guidance for all those interested in supporting science, technology, and innovation to improve health in the developing world. Applying these recommendations broadly across sectors and regions will empower developing countries themselves to harness the benefits of biotechnology and genomics for billions who have long been excluded.</p

Developing the agenda for European Union collaboration on non-communicable diseases research in Sub-Saharan Africa

<p>Abstract</p> <p>Background</p> <p>Health research is increasing in Africa, but most resources are currently chanelled towards infectious diseases and health system development. While infectious diseases remain a heavy burden for some African countries, non-communicable diseases (NCDs) account for more than half of all deaths globally and WHO predicts 27% increase in NCDs in Africa over the next decade. We present findings of a European-Africa consultation on the research agenda for NCDs.</p> <p>Methods</p> <p>A workshop was held in Yaoundé, Cameroon, organized by the Network for the Coordination and Advancement of Sub-Saharan Africa-European Union Science and Technology Cooperation (CAAST-Net). Drawing on initial presentations, a small expert group from academic, clinical, public-health and administrative positions considered research needs in Africa for cardiovascular disease, cancer and diabetes.</p> <p>Results</p> <p>Research in Africa can draw from different environmental and genetic characteristics to understand the causes of the disease, while economic and social factors are important in developing relevant strategies for prevention and treatment. The suggested research needs include better methods for description and recording, clinical studies, understanding cultural impacts, prevention strategies, and the integrated organisation of care. Specific fields proposed for research are listed.</p> <p>Conclusions</p> <p>Our paper contributes to transparency in the process of priority-setting for health research in Africa. Although the European Union Seventh Framework Research Programme prioritises biomedical and clinical research, research for Africa should also address broader social and cultural research and intervention research for greatest impact. Research policy leaders in Africa must engage national governments and international agencies as well as service providers and research communities. None can act effectively alone. Bringing together the different stakeholders, and feeding the results through to the European Union research programme is a valuable contribution of CAAST-Net.</p

Harnessing genomics to improve health in the Eastern Mediterranean Region – an executive course in genomics policy

BACKGROUND: While innovations in medicine, science and technology have resulted in improved health and quality of life for many people, the benefits of modern medicine continue to elude millions of people in many parts of the world. To assess the potential of genomics to address health needs in EMR, the World Health Organization's Eastern Mediterranean Regional Office and the University of Toronto Joint Centre for Bioethics jointly organized a Genomics and Public Health Policy Executive Course, held September 20(th)–23(rd), 2003, in Muscat, Oman. The 4-day course was sponsored by WHO-EMRO with additional support from the Canadian Program in Genomics and Global Health. The overall objective of the course was to collectively explore how to best harness genomics to improve health in the region. This article presents the course findings and recommendations for genomics policy in EMR. METHODS: The course brought together senior representatives from academia, biotechnology companies, regulatory bodies, media, voluntary, and legal organizations to engage in discussion. Topics covered included scientific advances in genomics, followed by innovations in business models, public sector perspectives, ethics, legal issues and national innovation systems. RESULTS: A set of recommendations, summarized below, was formulated for the Regional Office, the Member States and for individuals. • Advocacy for genomics and biotechnology for political leadership; • Networking between member states to share information, expertise, training, and regional cooperation in biotechnology; coordination of national surveys for assessment of health biotechnology innovation systems, science capacity, government policies, legislation and regulations, intellectual property policies, private sector activity; • Creation in each member country of an effective National Body on genomics, biotechnology and health to: - formulate national biotechnology strategies - raise biotechnology awareness - encourage teaching and training of biotechnology - devise integration of biotechnology within national health systems. CONCLUSION: The recommendations provide the basis for a road map for EMR to take steps to harness biotechnology for better and more equitable health. As a result of these recommendations, health ministers from the region, at the 50th Regional Committee Meeting held in October 2003, have urged Member States to establish national bodies of biotechnology to formulate a strategic vision for developing biotechnology in the service of the region's health. These efforts promise to raise the profile of genomics in EMR and increase regional cooperation in this exciting new field

Presymptomatic risk assessment for chronic non-communicable diseases

The prevalence of common chronic non-communicable diseases (CNCDs) far overshadows the prevalence of both monogenic and infectious diseases combined. All CNCDs, also called complex genetic diseases, have a heritable genetic component that can be used for pre-symptomatic risk assessment. Common single nucleotide polymorphisms (SNPs) that tag risk haplotypes across the genome currently account for a non-trivial portion of the germ-line genetic risk and we will likely continue to identify the remaining missing heritability in the form of rare variants, copy number variants and epigenetic modifications. Here, we describe a novel measure for calculating the lifetime risk of a disease, called the genetic composite index (GCI), and demonstrate its predictive value as a clinical classifier. The GCI only considers summary statistics of the effects of genetic variation and hence does not require the results of large-scale studies simultaneously assessing multiple risk factors. Combining GCI scores with environmental risk information provides an additional tool for clinical decision-making. The GCI can be populated with heritable risk information of any type, and thus represents a framework for CNCD pre-symptomatic risk assessment that can be populated as additional risk information is identified through next-generation technologies.Comment: Plos ONE paper. Previous version was withdrawn to be updated by the journal's pdf versio

A global framework for action to improve the primary care response to chronic non-communicable diseases: a solution to a neglected problem.

BACKGROUND: Although in developing countries the burden of morbidity and mortality due to infectious diseases has often overshadowed that due to chronic non-communicable diseases (NCDs), there is evidence now of a shift of attention to NCDs. DISCUSSION: Decreasing the chronic NCD burden requires a two-pronged approach: implementation of the multisectoral policies aimed at decreasing population-level risks for NCDs, and effective and affordable delivery of primary care interventions for patients with chronic NCDs. The primary care response to common NCDs is often unstructured and inadequate. We therefore propose a programmatic, standardized approach to the delivery of primary care interventions for patients with NCDs, with a focus on hypertension, diabetes mellitus, chronic airflow obstruction, and obesity. The benefits of this approach will extend to patients with related conditions, e.g. those with chronic kidney disease caused by hypertension or diabetes. This framework for a "public health approach" is informed by experience of scaling up interventions for chronic infectious diseases (tuberculosis and HIV). The lessons learned from progress in rolling out these interventions include the importance of gaining political commitment, developing a robust strategy, delivering standardised interventions, and ensuring rigorous monitoring and evaluation of progress towards defined targets. The goal of the framework is to reduce the burden of morbidity, disability and premature mortality related to NCDs through a primary care strategy which has three elements: 1) identify and address modifiable risk factors, 2) screen for common NCDs and 3) and diagnose, treat and follow-up patients with common NCDs using standard protocols. The proposed framework for NCDs borrows the same elements as those developed for tuberculosis control, comprising a goal, strategy and targets for NCD control, a package of interventions for quality care, key operations for national implementation of these interventions (political commitment, case-finding among people attending primary care services, standardised diagnostic and treatment protocols, regular drug supply, and systematic monitoring and evaluation), and indicators to measure progress towards increasing the impact of primary care interventions on chronic NCDs. The framework needs evaluation, then adaptation in different settings. SUMMARY: A framework for a programmatic "public health approach" has the potential to improve on the current unstructured approach to primary care of people with chronic NCDs. Research to establish the cost, value and feasibility of implementing the framework will pave the way for international support to extend the benefit of this approach to the millions of people worldwide with chronic NCDs

Public engagement on global health challenges

<p>Abstract</p> <p>Background</p> <p>Experience with public engagement activities regarding the risks and benefits of science and technology (S&T) is growing, especially in the industrialized world. However, public engagement in the developing world regarding S&T risks and benefits to explore health issues has not been widely explored.</p> <p>Methods</p> <p>This paper gives an overview about public engagement and related concepts, with a particular focus on challenges and benefits in the developing world. We then describe an Internet-based platform, which seeks to both inform and engage youth and the broader public on global water issues and their health impacts. Finally, we outline a possible course for future action to scale up this and similar online public engagement platforms.</p> <p>Results</p> <p>The benefits of public engagement include creating an informed citizenry, generating new ideas from the public, increasing the chances of research being adopted, increasing public trust, and answering ethical research questions. Public engagement also fosters global communication, enables shared experiences and methodology, standardizes strategy, and generates global viewpoints. This is especially pertinent to the developing world, as it encourages previously marginalized populations to participate on a global stage. One of the core issues at stake in public engagement is global governance of science and technology. Also, beyond benefiting society at large, public engagement in science offers benefits to the scientific enterprise itself.</p> <p>Conclusion</p> <p>Successful public engagement with developing world stakeholders will be a critical part of implementing new services and technologies. Interactive engagement platforms, such as the Internet, have the potential to unite people globally around relevant health issues.</p

Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in Jeddah, Kingdom of Saudi Arabia

International audienceABSTRACT: BACKGROUND: The development of polymerase chain reaction (PCR)-based methods for the detection of known mutations has facilitated detecting specific red blood cell (RBC) enzyme deficiencies. We carried out a study on glucose-6-phosphate dehydrogenase (G6PD) deficient subjects in Jeddah to evaluate the molecular characteristics of this enzyme deficiency and the frequency of nucleotide1311 and IVS-XI-93 polymorphisms in the glucose-6-phosphate dehydrogenase gene. RESULTS: A total of 1584 unrelated Saudis (984 neonates and 600 adults) were screened for glucose-6-phosphate dehydrogenase deficiency. The prevalence of glucose-6-phosphate dehydrogenase deficiency was 6.9% (n=110). G6PD Mediterranean mutation was observed in 98 (89.1%) cases, G6PD Aures in 11 (10.0%) cases, and G6PD Chatham in 1 (0.9%) case. None of the samples showed G6PD A mutation. Samples from 29 deficient subjects (25 males and 4 females) were examined for polymorphism. The association of two polymorphisms of exon/intron 11 (c.1311T/IVS XI 93C) was observed in 14 (42.4%) of 33 chromosomes studied. This association was found in 9 (31.0%) carriers of G6PD Mediterranean and in 4 (13.8%) carriers of G6PD Aures. CONCLUSIONS: The majority of mutations were G6PD Mediterranean, followed by G6PD Aures and <1% G6PD Chatham. We conclude that 1311T is a frequent polymorphism in subjects with G6PD Mediterranean and Aures variants in Jeddah

Research on health transition in Africa: time for action

With rapidly increasing globalization, trends towards unhealthy diets, obesity, sedentary lifestyles and unhealthy habits are resulting in an increased worldwide burden of chronic non-communicable diseases (NCDs). In Africa this means that health systems face the challenge of an increasing burden of NCDs and of continuing high morbidity and mortality from communicable diseases. This health transition represents an enormous challenge to Africa as the region with the least resources for an effective response. Whereas previous epidemics, including HIV, have caught Africa unprepared, the opportunity now arises to take the advancing wave of health transition in Africa seriously. Health research has a key role to play in meeting health and development goals, and must be responsive to changing disease patterns, such as health transition. There is an urgent need for research on health transition in Africa to enable countries to respond effectively to rapidly changing health needs