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Health: Genomics

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Nutrigenomics and nutrigenetics: the emerging faces of nutrition

Source: Federation of American Societies for Experimental Biology Journal (FASEBJ) | October 2005

This paper reviews the emerging fields of nutrigenetics and nutrigenomics to explain how new analytical tools can investigate the link between diet and genes. Nutrigenetics studies single gene interactions, whereas nutrigenomics studies how genes interact with each other or with proteins and nutrients.

In the post-genomic era, nutrition is more than just eating well and getting a balance of vitamins and minerals — our genes significantly influence our nutritional needs and the way we process nutrients. The authors argue that understanding these fields is vital to improving nutrition worldwide.

An introduction to the basics of genomics explains how it has been used by pharmaceutical companies to create the field of pharmacogenetics, which has the potential to produce personalised therapies based on an individual's genes.

Some dietary links with illness — food allergies, for example — are straightforward. Others, such as in heart disease or obesity are more complex. The authors offer a fairly comprehensive overview of known links in both cases.

The health implications of studying the link between genes and diet are great, say the authors. For example, cancer or heart disease management relies on dietary modifications but patients often respond differently. A greater understanding of nutrigenetics could lead to better-tailored treatment.

South Africa — blazing a trail for African biotechnology

Source: Nature Biotechnology | October 2004

Based on data from 28 interviews among scientists, this commentary describes in clear terms how the health biotechnology industry is thriving in South Africa, nurtured by a confidence among scientists that arose originally with the development of mining and arms industry during the apartheid regime. With the emphasis on serving local needs, particularly the development of new drugs and vaccines for HIV/AIDS, South Africa is providing a shining example of how other developing countries can follow suit.

Genomes for medicine

Source: Nature | May 2004

In this article, David R Bentley explores the potential role of genomics in diagnosis and treatment of human diseases. He summarises current knowledge of the human genome and describes research into disease-related human genes — more than 1,400 of which have been identified. He then discusses ways that this knowledge might be used to develop predictive tests or target research towards effective cures that correct or replace defective proteins.

The article describes various 'roadblocks' to the application of genomics to medicine such as a limited understanding of when and where genes are expressed, and what causes their expression. A limited understanding of how molecules function and interact and a lack of knowledge about the functional sections of DNA outside genes are further constraints.

Major advances in diagnosis and treatment of disease are likely to emerge from a fuller understanding and annotation of all of the functionally important elements in the human genome. Bentley calls for all new human genome data to continue to be made freely available to promote continued innovation and further progress towards this goal.

Reference: Nature 429, 440 (2004)

Opportunities in Africa for Training in Genome Science

Source: African Journal of Biotechnology | February 2004

Across Africa, several types and levels of training are available in genetics, biochemistry and molecular biology. The emphasis of this 'perspective' article is on opportunities for training in computational aspects of genome science. It offers a pan-African survey of  initiatives, and suggestions on how to perform hypothesis-based bioinformatics research.

Current efforts to increase the ability of African scientists to process and analyse genomic and post-genomic data have the potential to accelerate the continent's scientific and technological development. But the authors' central concern is that unless the entire global community obtains access to genome science, rapid growth in the area will have little impact on scientific and technological development, particularly in developing countries.

The authors review opportunities for degree training in bioinformatics, along with short-term training workshops and online training. They also provide a list of networks, mailing lists and information about access to relevant online journals.

Bioscience and its Impact on Developing Countries

Source: EMBO Reports | 2001

In this 'viewpoint' article Jisnuson Svasti, Professor of Biochemistry at Mahidol University in Bangkok, examines the ways in which bioscience research is being explored and applied in Thailand. Recombinant DNA and gene expression therapies are well established, and Thailand has participated in two sequencing projects, including the rice genome. A limited amount of proteomics research is also underway. But Svasti explains that it is difficult to compete with research undertaken elsewhere: hardware is expensive and the new technologies evolve quickly.

Though the importance of genomic reseearch has been recognised - it forms one of the pillars of Thailand's 'research triangle' in biosciences - the author emphasises that greater efforts are required. The biosciences programme has been set back due to difficulties in establishing an appropriate research and management strategy, but will eventually consist of a collection of projects linked to local needs and expertise, covering biomedical science as well as research on animals and plants.

In conclusion, Svasti explains, developing countries such as Thailand must strive to make modest gains in genomics in selected areas of particular relevance. Failure to do so will not only result in the loss of commercial benefits, but more importantly, lead to a decay in scientific manpower resources and capability to such an extent that they will no longer fulfil the country's development objectives.

A Vision for the Future of Genomics Research

Source: Nature | April 2003

Written on behalf of the US National Human Genome Research Institute (NHGRI) to coincide with the completion of the human genome sequence, this review article attempts to provide a "blueprint" that encompasses the reality of the "genomic era". It is the outcome of almost two years of intense discussions of with hundreds of scientists and members of the public, in more than a dozen workshops and numerous individual consultations.

The vision is formulated into three major themes: genomics to biology, genomics to health, and genomics to society. It identifies a series of 'grand challenges' for each theme, which represent ambitious research targets for the scientific community, and proposes ways in which these can be moved forward.

The article focuses on the future involvement of the NHGRI in the future of genomics research, but acknowledges that extensive collaboration between scientists and funding sources - as characterised the Human Genome Project - will be essential.

Shaping Science Policy in the Age of Genomics

Source: Nature Reviews Genetics | April 2004

Genomic technologies continue to transform biomedical research and are being widely used to help understand the biochemical mechanisms that underlie disease. But the rapid proliferation of genomics-based technologies - and their application in a clinical context - poses immense social and policy-making challenges.

This 'perspective' article states that until several ethical, legal and social issues are addressed by effective science policy, the potential of genomic technologies will not be fully realised. The authors argue that more widespread public debate and subsequent policy action are urgently required.

Although the article focuses largely on the US situation, it includes a useful discussion of the mechanisms by which science policy tends to develop, drawing on recent examples. The authors conclude by proposing an independent genome policy organisation, which would provide a forum for to explore public concerns and develop policy options.

Bridging the Genomics Divide

Source: Ludwig Centre for Cancer Research | 2003

This fact sheet suggests the ways in which developing countries can contribute to - and benefit from - advances in genomics. It suggests that some public money would be better spent on supporting genomic science in developing countries, which can aid both poor and wealthy societies. It also provides a round-up of developing nations currently pursuing genomic programmes.

Genomic science, the fact sheet suggests, holds several advantages for developing countries:

  • Sequencing is a straightforward process that can be done effectively and efficiently in the developing world
  • There are fewer barriers to achieve genomic discoveries compared to other disciplines
  • Tropical diseases that affect mainly poor nations stem from clearly defined pathogens that are best deciphered through genetic research
  • Genomics is an emerging science allowing early investments to pay off in the future


  • Given the long list of problems that developing countries face, funding genomic research must be carefully balanced against other health necessities. When done wisely - for example, by relying on a network of coordinated labs, and utilising existing talent - these initiatives have prooved financially viable.

     

    Genetics and Developing Countries

    Source: British Medical Journal | April 2001

     

    This article briefly considers the ways in which developing countries could benefit from the new drugs and vaccines that will result from mapping the human genome.

    The impact of potential scientific advances will, the authors note, vary according to each country’s burden of disease, financial resources, educational attainment and health systems. But they suggest that even if only 10 per cent of the genome represents targets for new drugs, the possibility exists for creating at least 3,000 new molecular entities to combat disease.

    Knowledge of the genome, the article goes on, should encourage medical researchers to seek out new interventions that are population-based and emphasis should be put on developing inexpensive drugs and vaccines that prevent disease and disability in populations. If not, the Human Genome Project has the potential to widen the gap in health care between the rich and poor on an unprecedented scale.

    Key Drivers of Genomics: Forecasts for 2015

    Source: UK Economic and Social Research Council | January 2002

    This paper attempts to forecast the directions that genomics research and design will take up until 2015. Although not focusing explicitly on the developing world, it articulates some pertinent issues in an accessible, easily digestible way.

    It identifies ten political, social, economic, and technical drivers of genomics over the next decade, and offers different scenarios for each. The drivers include: social attitudes; social mobilisation; demand; functionality of genomics technologies; governance of knowledge; business forces; and regulation. From a developing-world perspective, it appears likely that the more pessimistic scenarios may proliferate.

    The paper implicitly highlights the contestations, differing values, and widely different contexts in which genomics research must be conducted, and how appropriate technologies are brought to the marketplace.

    Report of the International Bioethics Committee on Ethics, Intellectual Property and Genomics

    Source: UNESCO | January 2002

    This report arose from a realisation of the need to clarify international intellectual property law in light of recent advances in genomics, most visibly the mapping of the human genome. It is the result of a working party convened by UNESCO in 2001.

    The report hinges on the following key issues:

  • The broad shift away from publicly funded pure science;
  • The intimacy of the study of the human genome to individual and groups of people
  • Refocusing of research priorities away from the greatest human need to the greatest achievable profit;
  • "Premature protection" brought about by rapid and blanket acquiring of patents while the study of the genome is still in its infancy and poorly understood;
  • A lack of equity in benefit sharing, whereby developing countries do not accrue the correct benefits for the utilisation of genetic material sourced from their countries.

  • The report acknowledges the strengths and the weaknesses of current legislative frameworks surrounding bioethics and endorses the creation of an inter-agency committee on bioethics, and for closer links between governments, scientists, institutes and corporations engaged in genomic research. It also acknowledges the potential for genomics to widen the technology and the knowledge gap and calls for closer relationships between institutions like WHO and UNESCO.

     

    Genomics and Global Health

    Source: British Medical Journal | May 2002

    Written to coincide with publication of the World Health Organisation's report, Genomics and World Health, this editorial opens with issues of ownership and genomics. It points out that most genomics-related patents are owned by the United States, and of the 1233 new drugs marketed between 1975 and 1999, only 13 were approved specifically for tropical diseases.

    Aside from the complex scientific and technical problems of bringing genomics to the clinic,  ensuring that its benefits will be reaped by developing countries will require paying attention to many challenges. For example, there are questions over who will pay to test, develop and deliver important vaccines, drugs and diagnostics for diseases of the developing world, and who will ensure equitable access to those who need it most.

    The article concludes with a reference to the globalisation of disease, with many poorer countries making the epidemiological transition towards a pattern of disease similar to that of the developed countries. The authors conclude that development of research partnerships between developed and developing countries will not only help to combat the global inequity of health care but will also be of enormous benefit to both parties.

    Statement of the WHO Expert Consultation on New Developments in Human Genetics

    Source: Human Genetics Programme, World Health Organisation | 2000

    In 2000 the World Health Organisation (WHO) undertook a consultation exercise involving both invited experts in human genetics and staff members, to review WHO’s activities in human genetics, identify challenges and priorities for WHO, and assess the future role of the organisation in genetics.

    The paper briefly outlines WHO's role as a leader in health-related issues, and emphasises its need to provide policies on human genetics quickly and decisively. It includes a short statement that underlines the importance of applying knowledge from the human genome in an ethical way, with "due regard to autonomy, justice, education, and the beliefs and resources of each nation and community".

    Priority recommendations for WHO include:

  • Developing its capacity to offer a global response to the ethical, legal and social issues posed by the revolution in human genetics
  • Convening a public, high-level meeting to consider these issues and to stimulate global dialogue
  • Ensuring the establishment of a genetic resource centre
  • Encouraging all nations to set up genetic services and prepare for future needs.
  • Developing international norms and standards for genetic testing and other health-related gene technologies
  • Considering the implications of the use of experimental transgenic animals, possible hazards from zenotransplantation to humans, and relevant issues arising from the development of these and other genetically modified organisms
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    Tackling the Most Difficult Diseases

    Source: EMBO Reports | 2001

    Vector-borne infectious diseases such as malaria and yellow fever have continued to evade attempts to find lasting programmes of prevention. This article examines the potential of genomics to open new strategies to fight such diseases. Scientists are focusing on genetics in order to analyse and ulitimately modify the parasites and their vectors. Such strategies will aim to complement other forms of healthcare and vaccine, drug and pesticide development.

    The article predates recent progress on mosquito sequencing, and traces the earlier efforts of the National Institute of Allergy and Infectious Diseases to map the genome of the malaria-transmitting mosquito. The article also describes research into producing a DNA vaccine encoding a saliva protein found in sand flies infected with the leishmania parasite.

    The practical dilemmas of field-testing are also covered. For example, how do you convince people not to use mosquito nets in order to facilitate studies of transgenic mosquitos?

    Human Genome Patents and Developing Countries

    Source: Commission on Intellectual Property Rights | 2002

    The UNESCO Declaration on the Human Genome and Human Rights (1997) outlines the principle that human genome sequence information should be freely available to all countries. This report, by Sivaramjani Thambisetty, attempts to clarify what access really exists and questions to what extent national patent systems should be allowed to impinge on this international consensus.

    The report discusses:

  • The possibility and implications of patenting of human genetic material taken from developing countries
  • Patenting and informed consent of participants in genetic research
  • The relevance of community consultation and consent
  • Benefit sharing with the research participant
  • Patent laws in developed countries with respect to informed consent and benefit sharing
  • Post-grant control over use of a patent
  • Developing countries and patent protection for human genetic material

    The author suggests that merely making the human genome sequence available on the Internet satisfies the principle only in letter and not in spirit, and concludes that the relevance and implementation of UNESCO’s Declaration should now be reviewed. The report was commissioned as a background paper for the UK Commission in Intellectual Property Rights.
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    The User’s Guide to the Human Genome

    Source: Nature Genetics | 2002

    A guide for scientists to help them browse and analyse data produced by the International Human Genome Sequencing Consortium and other systematic sequencing projects. The introduction points out that although the Human Genome Project (HGP) has produced a flood of data with enormous potential, many research programmes that stand to gain from access to the information have not been able to capitalise on its potential. Some have found the data hard to use, while others are not conversant with the many databases and analytical tools that are now available.

    This guide covers a series of worked examples, providing an overview of the types of data available, details of how these data can be browsed, and offers step-by-step instructions for using many of the most commonly-used tools for sequence-based discovery

    The major web portals featured include: the National Center for Biotechnology Information Map Viewer; the University of California, Santa Cruz Genome Browser; and the European Bioinformatics Institute’s Ensembl system.

    An Introduction to Genomics

    Source: US Department of Energy Joint Genome Institute | 2004

    Produced by the Joint Genome Institute at the US Department of Energy as part of its educational materials, this is one of the best basic primers available online.

    It examines some of the technological applications of genomics - such as fighting disease, protecting plant life and harnessing "nature's technology" (for instance, outlining ways of using bacteria and other microbes to solve a variety of environmental problems, develop new energy sources, and improve industrial processes).

    The article goes on to explain the biology behind DNA sequencing, describing the reasons for human differences and mutations, and how proteins are produced from DNA. It then compares the DNA sequence patterns of humans with a variety of other sequenced organisms, explaining why this is important.

    World Survey of Funding for Genomics Research

    Source: Global Forum for Health Research/World Health Organisation | September 2000

    This report publishes the results of a survey of organisations that fund genomics research throughout the world, and was produced for an international conference hosted by the Global Forum for Health Research and the World Health Organisation. It provides an analysis of funding and links it to current (at September 2000) trends that include private sector research and development funding, patent ownership and the market value of publicly traded firms.

    Findings include: the private sector is a larger funder of genomics than the public sector; the majority of genomics funding goes to the United States; ownership of patents and other intellectual property is heavily concentrated in the United States.

    The report concludes that the focus in genomics research has been to create valubale data rather than to consider a balanced distribution of benefits among the world's population. This lack of focus at the international level has meant that the initial technological fruits of genomics are likely to consist primarily of therapeutic and diagnostic applications for conditions affecting rich countries.

    Cures for the Third World's problems

    Source: EMBO Reports | 2002

    Genomic research has already advanced our knowledge of infectious diseases, with the genome sequences of many pathogens now established. The authors of this 'viewpoint' article say that the new tools of comparative genomics, computational biology, and informatics offer remarkable opportunities for reducing the negative impact of diseases in developing countries.

    They claim that biotechnology coupled with genomics might emerge as the key technology for improving global health in the 21st century, and say that developing countries stand to profit most from advances in genome science.

    But they also warn that developing-world diseases should no longer be viewed in purely medical or public health contexts. Infectious diseases are likely to pose a major risk to the economic survival of many developing nations. And recent studies suggest that some of these diseases may have wider implications for global security, with possible links to the probability that a nation will experience armed conflict.

    Genomics and World Health: Report of the Advisory Committee on World Health

    Source: World Health Organisation | April 2002

    This major report was produced by the WHO's Advisory Committee on Health Research - after wide consultation - to highlight the relevance of genomics for global healthcare, with a particular focus on the implications for developing countries. It aims to ensure that genome technology is used to reduce rather than exacerbate global inequalities in health status.

    The report focuses on human and pathogen genomics but also acknowledges the potential benefits of plant and animal genomics. Some of the issues surrounding the impact of genomics in developing countries are highlighted, for example, the high cost of genomic research, intellectual property rights and the way in which the pharmaceutical industry operates.

    The report concludes with a series of recommendations for genomics and health in WHO member states, focusing in particular on the ways in which international cooperation may provide greater universal benefit of genomics research and technologies. The report is a useful resource, overviewing many aspects of genomics and the implications for healthcare in the future.