Billie-Jo Hardy

Genomic medicine and developing countries: creating a room of their own

The notion that developing countries must wait for the developed world to make advances in science and technology that they later import at great cost is being challenged. We have previously argued that developing countries can harness human genetic variation to benefit their populations and economies. Based on our empirical studies of large-scale population genotyping projects in Mexico, India and Thailand, we describe how these resources are being adopted to improve public health and create knowledge-based economies. A significant additional benefit is building the capacity for scientific research and internalizing advances in technology, whatever their source.

The next steps for genomic medicine: challenges and opportunities for the developing world

This is a historical moment on the path to genomic medicine — the point at which theory is about to be translated into practice. We have previously described human genome variation studies taking place in Mexico, India, Thailand, and South Africa. Such investments into science and technology will enable these countries to embark on the path to the medical and health applications of genomics, and to benefit economically. Here we provide a perspective on the challenges and opportunities facing these and other countries in the developing world as they begin to harness genomics for the benefit of their populations.

Genomics, public health and developing countries: the case of the Mexican National Institute of Genomic Medicine (INMEGEN).

In 2004, the government of Mexico established the National Institute of Genomic Medicine (INMEGEN), to carry out disease-related genomic studies that will address national health problems and stimulate scientific and technological development by generating new commercial products and services in genomic medicine. Towards this end, INMEGEN is carrying out a large-scale genotyping project to map genomic variation within its own population. The initiative is expected to generate a key resource for local researchers to understand disease susceptibility and variation in drug responses, which will contribute to Mexicos goal of developing public health genomics — a field in which Mexico is proving to be a leader amongst emerging economies.

South Africa: from species cradle to genomic applications

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.

From diversity to delivery: the case of the Indian Genome Variation initiative

India currently has the worlds second-largest population along with a fast-growing economy and significant economic disparity. It also continues to experience a high rate of infectious disease and increasingly higher rates of chronic diseases. However, India cannot afford to import expensive technologies and therapeutics nor can it, as an emerging economy, emulate the health-delivery systems of the developed world. Instead, to address these challenges it is looking to biotechnology-based innovation in the field of genomics. The Indian Genome Variation (IGV) consortium, a government-funded collaborative network among seven local institutions, is a reflection of these efforts. The IGV has recently developed the first large-scale database of genomic diversity in the Indian population that will facilitate research on disease predisposition, adverse drug reactions and population migration.

Universal health care, genomic medicine and Thailand : investing in today and tomorrow

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 Pharmacogenomics 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.

Bidil: recontextualizing the race debate.

June 2007 marked the second anniversary of the Food and Drug Administration (FDA)’s approval of BiDil, the first drug to be licensed for a specific ethnic population, namely self-identified blacks. However, BiDil remains mired in controversy over race-based medicine. This controversy has played out mainly in the United States (US), but has important implications world wide for the trajectory of personalized medicine. There is compelling evidence of BiDil’s efficacy. No other drug combination has been shown, under the same circumstances, to have such a large survival advantage, and improvement in time to first hospitalization and quality of life in African Americans with heart failure. African Americans are a minority with a particularly high risk of heart failure. The American College of Cardiologists, the American Heart Association and others (http://circ.ahajournals.org/ cgi/content/full/112/12/e154) have accepted these findings and made recommendations in keeping with the evidence. Yet today, only a very small proportion of African-American patients, who might benefit from it, are currently receiving it. The series of prior scientific and clinical studies leading to the AfricanAmerican Heart Failure Trial (A-HeFT) and the approval of BiDil are well known. They provide adequate scientific justification for a clinical trial to have recruited self-identified blacks exclusively. Following the eruption of the race-based medicine controversy, the FDA strongly defended its decision. There is little doubt it was acting within its mandate and primarily with a view to benefiting the African-American community of heart failure patients that had little other choice. To understand the BiDil case and by extension, potential opportunities and harms of marketing drugs targeted at specific populations, we interviewed 18 key informants including scientists, clinicians involved in the A-HeFT clinical trial, representatives of groups that supported or cosponsored the trial, including the Association of Black Cardiologists, regulators at the FDA, ethicists and the management team of NitroMed, the company that developed BiDil. The opinions expressed here are based on these interviews, on the published literature and on our own perspective of exploring emerging technologies to improve global health. We found that a very substantial part of the discourse did indeed focus on the risks and threats of race-based medicine. This subject has been covered well in the literature, and we have summarized the concerns and recommendations from our data in Table 1. We found that this concern, in some instances, seems to be very narrowly conceived and overshadows the broader context in which the BiDil case exists. We conclude that to make race-based medicine the defining issue of BiDil overlooks other, more compelling perspectives.