s c i e n c e A n d s o c i e t y

Universal health care, genomic medicine and Thailand: investing in today and tomorrowBéatrice Séguin, Billie-Jo Hardy, Peter A. Singer and Abdallah S. Daar

Abstract | One potential outcome of investing in genomic medicine is the provision of tools for creating a more cost-effective health-care system. Partly with this aim in mind, Thailand has launched two genotyping initiatives: the Thai sNP Discovery Project and the Thai centre for Excellence in Life sciences Pharmaco genomics Project. Together, these projects will help Thailand understand the genomic diversity of its population and explore the role that this diversity has in drug response and disease susceptibility in its population. A major future challenge will be for Thailand to integrate genomic medicine in its relatively young universal health-care system.

One of Thailand’s distinguishing features as an emerging economy is the universal health-care coverage for its population — a feature that can present both an opportunity

and a challenge in the context of applying genomic medicine. An objective of Thai universal health-care coverage is to ensure local access to essential medicines. However,

as with most universal health-care schemes, financial resources are limited and govern-ment providers must focus health expen-ditures on those medicines that are most likely to achieve the greatest health benefit at present. It is therefore legitimate to ask if drugs that have been developed and tested in Caucasian populations of industrialized countries would have the same therapeutic index (benefit/risk ratio) in the Thai popula-tion1. Policy makers and scientists are aware that genomic diversity research presents an opportunity to understand local patterns of complex disease risk and variation in drug response, susceptibility to adverse drug reactions (ADrs), as well as patterns of infectious disease resistance. This knowledge should translate into better diagnostics, better informed therapeutic choices and eventually perhaps into new therapeutics and improved lifestyle choices that promote health and prevent disease.

The Thai SNP Discovery Project, a col-laboration between Mahidol University’s Faculty of Medicine, ramathibodi Hospital and Oracle Co. Ltd (Thailand), the National Center for Genetic Engineering and biotechnology (bIOTEC; Thailand)

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13. Indo-Asian News Service. Indian biotech sector crosses $2 billion in FY 2007. Twocircles.net [online], <http://www.twocircles.net/2007jun07/indian-biotech-sector-crosses-2-billion-fy-2007.html> (2007).

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15. Becerril, A. Aprueba el Senado sanciones a quienes trasladen tejido humano fuera de México. La Journada [online], <http://www.jornada.unam.mx/2008/03/28/index.php?section=sociedad&article=046n1soc> (2008) (in Spanish).

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19. Kukreti, R. et al. Beta(2)-adrenergic receptor polymorphisms and response to salbutamol among Indian asthmatics. Pharmacogenomics 6, 399–410 (2005).

20. Bhatnagar, P., Guleria, R. & Kukreti, R. Variable therapeutic response in asthma: a genetic perspective. Personalized Medicine 3, 61–78 (2006).

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22. Thorsteinsdottir, H., Quach, U., Daar, A. S. & Singer, P. A. Conclusions: promoting biotechnology innovation in developing countries. Nature Biotechnol. 22 (Suppl), DC48–DC52 (2004).

23. Frew, S. E., Sammut, S. M., Siu, W. W., Daar, A. S. & Singer, P. A. The role of the domestic private sector in developing countries for addressing local health needs. Int. J. Biotechnology 8, 91–102 (2006).

24. Holm, S. in The Power of Pills: Social, Ethical and Legal Issues in Drug Development, Marketing and Pricing (eds Cohen, J. C., Illingworth, P. & Schuklenk, U.) 98–109 (Pluto Press, Ann Arbor, Michigan, 2006).

25. Prahalad, C. K. & Hart, S. L. The Fortune at the Bottom of the Pyramid. Strategy and Business Magazine. [online], <http://www.cs.berkeley.edu/~brewer/ict4b/Fortune-BoP.pdf> (2002).

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AcknowledgementsThis project was funded by Genome Canada through the Ontario Genomics Institute. The Indian Council of Medical Research provided in kind co-funding for this research. The McLaughlin–Rotman Centre for Global Health, Program on Life Sciences, Ethics and Policy is primarily supported by Genome Canada through the Ontario Genomics Institute, the Ontario Research Fund, and the Bill and Melinda Gates Foundation. Other matching partners are listed atThe McLaughlin–Rotman Centre for Global Health web site. A.S.D. and P.A.S. are supported by the McLaughlin Centre for Molecular Medicine. P.A.S. is supported by a Canadian Institutes of Health Research Distinguished Investigator award. The IGV project was supported by SCIR, India.

FURtHeR inFoRMAtionMcLaughlin–rotman centre for Global Health: http://www.mrcglobal.org Africa Genome education institute: http://www.africagenome.co.zacensus of india rural–Urban Distribution: http://www.censusindia.gov.in/census_Data_2001/India_at_glance/rural.aspxethical Guidelines for Biomedical research on Human Participants: http://www.icmr.nic.in/ethical_guidelines.pdfGenetics india: http://www.geneticsindia.comGuidelines for exchange of Human Biological Material for Biomedical research Purposes: http://icmr.nic.in/min.htmHuman Genetics and Genome Analysis: http://dbtindia.nic.in/oldwebsite/r&d/humangenome.htmlindia country Overview 2007, World Bank web site: http://go.worldbank.org/NLcX7c1vc0National Biotechnology Development strategy: http://dbtindia.nic.in/biotechstrategy/National%20Biotechnology%20Development%20strategy.pdfNational institute of Genomic Medicine (iNMeGeN), Mexico: http://www.inmegen.gob.mxNew Millennium indian technology Leadership initiative: http://www.csir.res.in/external/Heads/collaborations/Nmitli.htmthailand center for excellence in Life sciences: http://www.tcels.or.th/en/index.aspthe Human Genome: http://pib.nic.in/feature/feyr2001/fsep2001/f120920011.html

All links Are Active in the online pdF

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and Centre National de Génotypage (CNG; France), has collected samples from the Thai population and created a SNP data-base containing allele frequency and linkage disequilibrium (LD) block patterns for all annotated human genes and their regulatory regions. Initiated as Thailand’s contribu-tion to the Human Genome Organisation (HUGO) Pan-Asian SNP Consortium, the database will also contain other information generated by the principal investigators of the Thai SNP Discovery Project, such as genomic sequences, genomic structure, primer sequences and functional genomic information.

A second major genotyping project in Thailand is the Thailand Centre of Excellence in Life Sciences (TCELS) Pharmacogenomics Project, which is per-forming SNP genotyping of genes involved in drug responses in the Thai population. Although the two projects were initiated separately, the participating research scientists collaborate extensively on several projects.

Applications resulting from these initia-tives in the context of universal health care will require a long-term approach. The hope is that costs to Thailand’s health-care system will be reduced through selective use of safe and efficacious drugs as a result of these research initiatives. The cost of drugs in Thailand is an issue of major national concern; it is one of a few coun-tries that has issued compulsory licenses in order to access existing therapeutics at a more affordable price2. Compulsory licenses are issued by a government under certain conditions, such as a health emer-gency, to manufacture a patented product without the permission of the patent holder, and with adequate compensation (see the world Trade Organization’s FAQs on compulsory licensing of pharmaceu-ticals). Thailand is thus at a crossroad, balancing its efforts between addressing the short-term problems of drug access while investing in the long-term research aimed at increasing the chances of meeting its own local health needs through local research and development (r&D) and innovation.

Using previously described qualitative methods3,4 we performed 15 in-depth semi-structured interviews with key informants, including scientists and managers at the Thai SNP Discovery Project and the TCELS’ Pharmacogenomic Project, as well as regula-tory and government officials, a policy analyst, and experts in the area of genomics/pharmacogenetics and ethics from devel-oped and developing countries. below we

explore these results within the context of a universal health-care system in an emerging economy.

Adoption of genomic medicine in thailandPolitical will. Thai stakeholders from vari-ous institutions, including local universi-ties, bIOTEC, the National Science and Technology Development Agency (NSTDA) and the Thai Ministry of Public Health, participated in an Asia-Pacific Economic Cooperation (APEC)-wide foresight study in 2003. The meeting culminated in a report entitled: ‘DNA Analysis for Human Health in the Post-Genomic Era’, which included a chapter authored by Thai stakeholders exploring opportunities and implications associated with the adoption of genomic medicine for member nations, titled ‘Issues Paper’. In response, Thailand has promulgated its national policy, and in the National biotechnology Policy Framework 2004–2009 genomics and bioinformatics were identified as key strategy areas for improving the health of the Thai people, developing new bio-businesses as well as creating a self-sufficient economy.

The second major project is aimed at a more downstream and potentially more immediate application of studies of human genomic variation. The establish-ment of TCELS, which initiated the Thai Pharmacogenomics Project by a royal Decree of the King of Thailand in June 2004, attests to the importance of this project, as does the initial investment of 120 mil-lion bhat (approximately US$3.9 million) from the Thai government. This initiative is consistent with the Thai biotechnology policy framework. Although some of our key informants realistically expected that the fruits of their research will take time to have an impact on both local health care and the economy, they are aware that the applica-tions of genomic medicine are already being applied clinically in ways that are relevant to Thailand. For example, Abacavir, an HIv antiretroviral, is associated with a hypersen-sitivity reaction5 that is associated with the allelic variant HLA‑B*5701, the frequency of which varies across populations6–9. Prospective screening for this genotype can result in decreased occurrence of hypersen-sitivity reactions because individuals with this variant are not prescribed Abacavir10,11.

Local health benefits. with a population of 64 million, Thailand spends 3.5% of its gross domestic product (GDP) on health care (see the world Health Organisation’s Thailand overview). 95% of the Thai population has

health-care coverage, with 72% accessing it through the Thai Universal Health Scheme (UC)12. Aiming towards cost-effective, local health-care solutions, the Thai SNP Discovery Project will provide a reference database for spin-off projects that look specifically at disease associations. Such projects will include understanding genetic susceptibility to clinical malaria, identify-ing genetic factors involved in the clinical severity of thalassaemia–haemoglobin E disease, and understanding the development of Dengue haemorrhagic fever. The TCELS’ Pharmacogenomics Project, on the other hand, has collected 1,500 samples from patient populations or healthy Thais from throughout Thailand for five pharmacog-enomics projects: an HIv pharmacogenom-ics project (studying Nevirapine-induced skin rash); drug allergy to allopurinol and carbamazepine; pharmacogenomics in childhood acute lymphoblastic leukaemia; studies into oncology-chemotherapy (using fluorouracil, 5-FU); and investigation of thalassaemia–haemoglobin E disease.

researchers from the TCELS’ Pharmacogenomics Project and the Thai SNP Discovery Project are focusing on diseases that are common in Thai patients. One key informant emphasized the value of conducting research for local benefit. He pointed out that given the small size of the Thai market there is little to no incentive for multinational corporations to ensure that therapeutics have a good response rate with few adverse effects within the Thai population. The same, in fact, applies to many emerging economies and developing countries.

One application that would be amenable to public health interventions is the screen-ing of HIv patients for susceptibility to nevirapine-induced skin rash, an antiretro-viral treatment that is used in Thailand. Such an application would have important public health implications. According to a docu-ment issued by the Thai Ministry of Public Health and the National Health Security Office, approximately 20% of patients using nevirapine-based triple antiretrovirals, such as GPO-vIr, develop the adverse reac-tion13,14. Nevirapine can be replaced with an alternative therapeutic that does not cause the ADr — Efavirenz-based triple antiretro-viral. However, the cost of this treatment is more than twice that of GPO-vIr14,15. Thus, nevirapine is still used as a first-line treat-ment in Thailand, and those patients who develop the ADr are subsequently switched to Efavirenz. If a genetic basis for the reac-tion to nevirapine was known, diagnostic

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screens could be developed leading to a decreased incidence of nevirapine-induced ADrs and rational use of Efavirenz.

In addition, TCELS has a particular interest in addressing a locally relevant mental health problem: it is collaborating with scientists at rIKEN Institute, Japan, to perform genome-wide scans on 3,000 samples from Tsunami victims that have experienced post-traumatic stress disorder (PTSD), a disease with negative socio-economic and health consequences on chil-dren and adults16. This project provides a good example of north–south collaboration (that is, between developed and develop-ing economies) and further supports the argument that genotyping projects build scientific capacity.

Genomic sovereignty. At the onset of our study of large-scale genotyping projects in emerging economies, we found that in Mexico there was a desire to capture the value of investments in large-scale human genotyping projects and to protect Mexican biological samples from foreign exploitation. Key informants in Mexico spoke of protect-ing ‘genomic sovereignty’17. The concept of genomic sovereignty did not appear as explicitly in interviews with our key Thai informants, but we heard of a need to protect Thai DNA samples. One key informant puts it thus: “the export of the DNA from the developed country, like the UK or Japan, is very difficult. but if the DNA is coming out from Thailand, it’s very easy […]. we should have a clear regulation or law about how and who should authorize the transfer of the material abroad.” Others expressed concerns that inappropriately tough guidelines and/or legislation pertaining to genomic sovereignty might impede international collaborations and partnerships, which Thai researchers consider valuable because they contribute towards building local scientific capacity.

At present, it is difficult to evaluate the impact of the export of Thai samples. One key informant pointed out that there are institutional guidelines (within universities and hospitals) but no central unified national legislation on the export of human DNA samples. For example, there are guidelines from the Ministry of Public Health (MoPH) to restrict the export of DNA samples without proper justification (for instance, benefits to Thailand must be specified, and the MoPH requires that samples be accompanied by a local researcher), but these only apply to researchers who are funded through the Ministry. Thus, even if legislation in Thailand were not to go as far as to introduce

a genomic sovereignty law that is similar to the one recently passed in Mexico18, it would benefit from a standardized central system that would at a minimum provide Thailand with a better understanding of where its DNA samples were going and why. This is an important consideration if Thailand is to ensure a self-sufficient economy and a thriv-ing bio-business, as stated in the National biotechnology Policy Framework. Given the recent controversies over Thailand issu-ing compulsory licenses for antiretrovirals, ensuring that knowledge generated from human genomic variation studies is protected through legislation or intellectual property could avoid similar future scenarios with respect to products and services derived from

its own resources and research.Knowledge-based economy. As part of a broader indication that innovation and com-mercialization of local research are a priority for the Thai government, it has made an ini-tial public investment of $175 million in the Thailand Science Park19, which is intended to attract start-up as well as existing firms, including those focused on biotechnology and genomics. This type of support from the Thai government can be leveraged by organizations such as TCELS. The TCELS’ Pharmacogenomics Project, by virtue of its association with TCELS, is able to leverage available in-house administrative systems for managing its own intellectual property and translating basic research.

Although TCELS does promote com-mercialization of research, no results have been commercialized so far. we therefore sought private firms that might be investing in human genomics, wanting to understand what types of bottlenecks are currently in place with respect to early commercialization of knowledge stemming from human genomic variation studies. we interviewed chief executive officers (CEOs) of two recently established start-up private companies that provide genotyping

services to detect pre-dispositions to com-mon diseases. These services are different from a large-scale project such as the one initiated by Avesthagen in India3,20. They are more comparable to ones offered by health and wellness companies such as Sciona or 23andMe. Delphi Health Services Ltd provides genotyping services for complex disease such as type II diabetes, psoriasis and eczema through physicians in private hospi-tals and to medical tourists. HeartGenetics is mainly focused on providing genotyping services for cardiovascular disease; muta-tions in the low-density lipoprotein receptor gene and the cholesterol ester transfer gene are screened for. The company offers its genotyping services to hospitals, but also directly to consumers via its website.

both companies are at an early stage in their development, hence it is too early to analyse their capabilities, business models and economic benefit. Interestingly, how-ever, key informants from the Thai private sector suggested that initial health benefits from genomics will be primarily directed towards the medical tourism industry and private Thai hospitals. One CEO stated that: “the initial market that we and others are interested in are the medical tourists. Thailand serves as an excellent base of operation for developing these tests [for example, SNP genotyping] because field labour is so cheap here.” According to the Thailand board of Investment (bOI), typical labour costs for researchers and technicians are approximately $571 and $286 per month, respectively, making the cost of establish-ing local businesses very attractive and conducive to a medical tourism industry, which is already thriving in Thailand (see Thailand’s Advantages on the bOI web site). This feature is unique among the genotyping projects in the emerging economies we stud-ied. we found that the efforts supported by TCELS might eventually lead to diagnostics and/or therapeutics that would be amenable to local public health as well as economic benefits. The private sector firms we studied have so far not used these data because their focus, at present, is different.

Institutional leadership. Key informants acknowledge that the Thai population needs to understand the potential behind genomic medicine to encourage its adoption. various institutions in Thailand have shown leader-ship in the general area of public engagement. For example, science institutions like bIOTEC and the National Health Foundation promote public meetings to discuss general bioethics issues. One key informant stated that, at this

Close linkages that establish and encourage knowledge flows are necessary for innovation to occur. We have shown that, in general, successful firms in emerging economies proactively pursue collaborations and partnerships with the public and private sectors.

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stage, issues that concern the public relate more to stem-cell technologies, reproductive technologies and cloning, which they perceive as more contentious issues than human genomics. TCELS’ representatives have made appearances in the media, published materials in local newspapers, encouraged companies to produce educational material about DNA and pharmacogenomics, and conducted tours of local pharmaceutical firms, accompanied by journalists, in order to promote general public awareness on the importance of r&D in life sciences. In conjunction with local scientists, TCELS have released books and reports including ‘Pharmacogenomics for lay-man’ and ‘Pharmacogenomics in a resource-limited country, Thailand: building a better quality of life for Thai people’. written in Thai, they have been generated as part of an effort to gain support from the public, decision makers and funding bodies. Such public engagement initiatives are fully supported by our informants, even though they might be misunderstood. One informant put it this way: “someone even accused TCELS that ‘you spend too much money on the advertisement’ but I have a different idea. we need to educate people until they understand. And at that day, whether they will accept or reject it is up to their background. Not just based on some-thing that they don’t know.”

Genomic medicine in thailandDelivery and access. Thailand has universal health-care coverage, yet we did not come across any existing programme to implement genomic medicine into the public health-care system in the short term. Potential benefits are clear. For instance, one interviewee claimed that patients undergoing kidney transplant, if they were covered, would benefit from pharmacogenetic testing to prevent adverse reactions to azathioprine, a com-monly used drug to stop organ rejection. As he later stated, “in order to get the benefit of health, of genomics, universal health insur-ance is probably a pre-requisite.” However, Thai universal health-insurance coverage is new and only covers basic services. The addition of genetic tests as part of a public health initiative might be seen as an addi-tional financial strain on the system, an issue common to all health systems globally. At present, such testing is within reach of only the wealthier portions of Thai society.

Education of health-care professionals. Adoption of genomic medicine will require a well trained workforce. Although local genomics researchers have produced hand-books in Thai language to educate physicians

on how to “maximize the effectiveness of HIv-1 treatment by using molecular techniques, bioinformatics, and pharmaco-genomics”21, others revealed that one of the main barriers to the adoption of genomic medicine in a public health setting is indeed the formal training of human resources in this field, including the lack of genetic counsellors. This is a challenge facing most countries, including the industrially developed ones22.

Innovation framework. Critics of the Thai innovation system suggest there is too much emphasis upon supporting research and capacity in the public sector, at the expense of providing similar support to domestic indus-try23. Accordingly, one participant pointed out that vaccine production is often outsourced to foreign companies, which he saw as obstruc-tive towards long-term capacity building in science and technology in Thailand. This lack of support poses an additional challenge to developing newer fields such as genom-ics. In addition, Thailand is confronted by numerous capacity-building challenges. For instance, despite the National Health Foundation’s reverse brain Drain Project, one key informant stressed that there are still few human genomics researchers in Thailand and felt that many of their skilled Ph.D. graduates continue to leave the country.

Regulatory frameworks. Thailand has been noteworthy internationally because of its policy of compulsory licensing of essential medicines (for example, antiretrovirals)24–27. Thailand is therefore keen to innovate locally to reduce its dependence on other countries. One of the questions we heard repeatedly during our research in this and other coun-tries was whether drugs developed in indus-trialized nations will have the same effect in different populations and circumstances. The absence of a requirement for adequate clini-cal trials for all imported drugs in Thailand makes this a difficult question to answer. For example, we were told that in many instances bioequivalence studies alone are considered sufficient. The importance of this issue was reflected by one Thai participant who pointed out that there is a debate on whether or not products such as the roche Amplichip apply to Thai SNP variation patterns. As reaffirmed by one Thai key informant “a lot of drug com-panies will not have this research [population genomic variation] before launching their product, or they have but they are not includ-ing our group of people which are different from European, western, African. So we need these things so that they can be used for our people.” we were told that, currently, systemic

collection of genomic and pharmacogenomic data is not being requested by the Thai Food and Drug Administration during clinical studies. This is similar to other emerging economies we have studied (such as Mexico, India and South Africa) and is also common in developed countries. Nevertheless, the fact that we found two private firms in Thailand who offer genotyping services through health professionals and directly to consumers indi-cates there is consumer demand for personal-ized genomic medicine and, therefore, the need to regulate such services (and products that derive from genomics) might be more imminent than expected. Given the above, the challenges posed by genomic medicine might lead to the rethinking of the global regulatory architecture.

Collaboration. The Pharmacogenomic Project at TCELS collaborates with the rIKEN Institute, the Craig venter Institute, the beijing Genomics Institute and researchers at Yale University. The Thai SNP Discovery Project also has extensive collaborations, the most notable is with the HUGO Pan-Asian SNP Consortium. Nevertheless, during our interviews, we identified local collaboration challenges. Key informants in Thailand stressed the lack of collaboration between the academic and hospital research institutions and the local private sector. For example, individuals in the private sector stated that academic and hospital research institutions are unsupportive of commercialization efforts owing to ‘cultural’ differences between the academic and private sectors. As one key informant stated, “people say that it is very unethical to commercialize research projects like this [genomics].” Another suggested that the fear of giving up one’s own chances at academic publications is a factor. within the private sector, although we identified two local firms that are developing genotyping services, they were not aware of each other. Close link-ages that establish and encourage knowledge flows are necessary for innovation to occur28. we have shown that, in general, successful firms in emerging economies proactively pursue collaborations and partnerships with the public and private sectors28,29.

Race and ethnicity. The issue of the use of race and ethnicity in biomedical research has received a lot of attention, especially in the United States30–35, this topic is also relevant in emerging economies that are investing in population genotyping projects. we found that, although it was generally acknowledged that there are probably differences between Caucasian and Thai populations, differences

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within Thai subgroups were considered more contentious: “if you set up a project saying you would like to see the ethnic difference between the northernmost province and the southernmost province, you are in trouble, immediately.” One key informant explained that the word Thai refers to cultural identity and that it is preferable not to emphasize any potential genetic differences in research projects. This issue is not likely to dissipate in the near future and it will need to be considered within the cultural context of each country. For example, in a recent press release from the Indian Genome variation (IGv) consortium, IGv researchers have admitted to having “intense debates” on whether or not to reveal the names of the communities that have been sampled because of the social ramifications36,37.

concluding remarksThailand is making efforts to meet its urgent health-care needs as a result of infectious disease (for example, HIv) through univer-sal health-care coverage and compulsory licensing of essential medicines. At the same time, chronic disease rates are on the increase in Thailand, and elsewhere in the developing world, creating a double burden and often eclipsing the rate of infec-tious disease38,39. As a result, Thailand will soon face an additional financial burden on their universal health-coverage system. Accordingly, Thailand must also make the appropriate investments in its science and technology sector to generate innovation in order to reduce its reliance upon compulsory licensing — a short-term solution at best.

The Thai SNP Discovery Project and TCELS’ Pharmacogenomic Project reflect the vision of its government in addressing these challenges. Together, these initia-tives provide an insight into how Thailand is harnessing genomic variation in the Thai population and conducting the basic research towards discovery. Although they are in their early stages, these projects can result in economic benefits through stimulation of the bio-economy, and might result in a new generation of locally devel-oped and commercialized health-care prod-ucts and therapeutics. Through TCELS, the Thailand government has already begun to develop the essential infrastructure required for their effective translation. However, to meet this goal, Thailand will need to address the concerns raised here regarding the com-mercialization and collaboration gaps and the lack of regulatory oversight in this sector.

Implementing genomic medicine into public health-care systems will require

innovative models — the National Institute for Genomic Medicine in Mexico (INMEGEN) provides one, although Mexico lacks an equivalent universal health scheme17. INMEGEN, however, is part of the Mexican National Institutes of Health, whereas TCELS’ Pharmacogenomics Project is integrated within a not-for-profit government-funded entity with commer-cialization in life sciences as its mandate. In Thailand, many identified genomic medicine, such as diagnostics, as too costly for implementation within the universal health-care system. For now, testing seems to be only within reach of the wealthier por-tions of Thai society and medical tourists. Thus, Thailand has a choice. will it adopt a trickle-down model of incorporating genomic medicine into its health-care system, or will it instead demonstrate lead-ership amongst other developing nations and emerging economies and leverage its universal health-care system towards this goal, providing equal access and local health benefits to all of its citizens?

Billie-Jo Hardy, Béatrice Séguin, Peter A. Singer and Abdallah S. Daar are at the McLaughlin–Rotman

Centre for Global Health, Program on Life Sciences, Ethics and Policy, University Health Network and

University of Toronto, MaRS Centre, South Tower, Suite 406, 101 College Street, Toronto, Ontario M5G 1L7,

Canada.

Béatrice Séguin is also at the Leslie Dan Faculty of Pharmacy, University of Toronto, 144 College Street,

Toronto, Ontario M5S 3M2, Canada.

Peter A. Singer and Abdallah S. Daar are also at the McLaughlin Centre for Molecular Medicine, MaRS

Centre, Toronto Medical Discovery Tower, Suite 701, 101 College Street, Toronto, Ontario M5G 1L7,

Canada.

Correspondence to A.S.D. e-mail: a.daar@utoronto.ca

doi:10.1038/nrg2443

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AcknowledgmentsWe gratefully acknowledge M. Maliakkal for her contributions to this project. This project was funded by Genome Canada through the Ontario Genomics Institute. The McLaughlin–Rotman Centre for Global Health, Program on Life Sciences, Ethics and Policy is primarily supported by Genome Canada through the Ontario Genomics Institute, the Ontario Research Fund, and the Bill and Melinda Gates Foundation. Other matching partners are listed the McLaughlin–Rotman Centre for Global Health web site. A.S.D. and P.A.S. are supported by the McLaughlin Centre for Molecular Medicine. P.A.S. is supported by a Canadian Institutes of Health Research Distinguished Investigator award.

FURtHeR inFoRMAtion23andMe: https://www.23andme.comDelphi Health services Ltd: http://www.delphihealthservices.comDNA Analysis for Human Health in the Post-Genomic era, APec: http://www.apecforesight.org/php/publication/download1.php?pub_id=25FAQs on compulsory licensing of pharmaceuticals, World trade Organization: http://www.wto.org/english/tratop_e/TrIPs_e/public_health_faq_e.htmHeartGenetics: http://www.heartgenetics.comissues Paper from DNA Analysis for Human Health in the Post-Genomic era: http://www.apecforesight.org/apec_wide/docs/dna/IssuesPaper.docMcLaughlin–rotman centre for Global Health: http://www.mrcglobal.orgNational Biotechnology Policy Framework 2004–2009: http://www.biotec.or.th/document/W-Eng/FrameWork9-11-2548.pdfreverse Brain Drain Project, National Health Foundation: http://rbd.nstda.or.th/rbdweb/index.phproche Amplichip: http://www.roche.com/med_backgr-ampli.htmsciona: http://www.sciona.comtceLs Pharmacogenomics Project: http://www.tcels.or.th/en/ProjectsDetail.asp?projectID=60thai sNP Discovery Project: http://thaisnp.biotec.or.ththailand centre of excellence in Life sciences (tceLs): http://www.tcels.or.th/enWorld Health Organization’s thailand overview: http://www.who.int/countries/tha/enthailand’s Advantages, thailand Board of investment: http://www.boi.go.th/english/why/thailand_advantages.asp

All links Are Active in the online pdF

s c i e n c e A n d s o c i e t y

South Africa: from species cradle to genomic applicationsBillie-Jo Hardy, Béatrice Séguin, Raj Ramesar, Peter A. Singer and Abdallah S. Daar

Abstract | The south African government is committed to science and technology innovation, to establishing a knowledge-based economy and to harnessing life-sciences research for health and economic development. Given the constraints and the early stage of development of the field as a whole in south Africa, we found an impressive amount of research on human genomic variation in this country. Encouragingly, south Africa is beginning to apply genomics to address local health needs, including HIv and tuberculosis (TB) infections. We document a number of initiatives in south Africa that are beginning to study genetic variation within the various local indigenous populations. Other early initiatives focus on pharmacogenetic studies, mutation characterization in individual disease genes and genome-wide association studies. Public engagement in genomic issues is spear-headed by The Africa Genome Education Institute.

Sub-Saharan Africa, where modern humans arose1–3, is home to a wealth of human genetic, linguistic and cultural diversity4. There is thus much to be learnt from characterizing human genomic variation in this part of Africa, especially with regards to health applications. In recent years,

the African Society of Human Genetics (AfSHG) has begun to raise awareness of genomics and genetics in Africa with a focus on networking and capacity building throughout the continent. South Africa in particular has generated new scientific capacity in the field of genomic sciences,

including the recently launched high-throughput genomics platform at Lifelabs located at the Nelson r. Mandela School of Medicine at the University of KwaZulu-Natal, and the Centre for Proteomic and Genomic research (CPGr) at the University of Cape Town (UCT). These initiatives are in line with the recent report by the African Union High Level Panel on Modern biotechnology, entitled ‘Freedom to Innovate’, which recommends that Southern Africa focuses on a ‘core mission’ in health biotechnologies while other regions direct biotechnology efforts towards animal health (East Africa), agriculture (west Africa) and forestry (Central Africa).

we have previously described a potential roadmap towards the development of large-scale genotyping projects in emerging economies and the developing world, with examples from Mexico, India and Thailand5. Here we describe a study carried out in South Africa. Using previously described qualita-tive methods5,6 we conducted 21 in-depth semi-structured interviews with members of the African Genome Education Institute (AGEI) and the Division of Human Genetics at UCT as well as key informants from diverse backgrounds, including institutional research units, government officials, funding agen-cies, genomics/pharmacogenetics experts and bioethicists from both developed and developing countries. where applicable, we present our results using the framework of themes identified in Mexico, India and Thailand: political will, genomic sovereignty, institutional leadership, local health benefits and knowledge-based economy5.

Political willwe have previously highlighted the value of political will in creating the necessary policy and legislation, public funding and support to encourage the development of genomic medicine in emerging economies and devel-oping nations. For instance, government support through funding and legislation was crucial to the establishment of large-scale genotyping initiatives for health in Mexico, India and Thailand5.

In 2002, the National biotechnology Strategy report for South Africa7, commis-sioned by the South African government, recommended that the country focus on documenting the genomic diversity contained within the local indigenous and immigrant populations, including: “the mapping and identification of genes underlying disease structure, elucidation of the molecular basis of diseases com-mon to South Africa and the development

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