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Is genetics the next V-chip, or an iPad? In other words, will genetic technologies be leapfrogged by other, less cumbersome technologies, or will genetic science launch a technological revolution, akin to the iPad, that fundamentally alters how human society lives, works and plays?
In 2011-2012, the World Economic Forum convened a group of experts and policy-makers to consider the above question, as well as the implications of emerging knowledge of genetic codes for the economy and society. Participants from China, India, the USA, Europe and Africa gathered during the Summit on the Global Agenda 2011 in Abu Dhabi and in virtual forums throughout the year, to discuss how precisely global collaboration could make a positive contribution to the dissemination and development of genetic technologies. The Council represented many different points of view – from industrialized economies, to developing countries, and from constraints faced by the private sector, to priorities set by public health authorities. Ultimately, the Council agreed that global collaboration could and should address three issues raised by genetic technologies:
- Policies to facilitate the potential of genetic research to improve human health, and food quality and crop yields
- Frameworks to facilitate access to and sharing of genetic data
- Harmonizing genetic data standards
In the past decade genetic research has driven valuable discoveries for human health, energy, and agriculture. New vaccines and drugs to combat disease, improved crop yields, and fuels produced by converted bio-mass are now within reach thanks to advances in genetic techniques. According to research conducted by the Batelle Technology Partnership Practice in collaboration with the Life Technologies Foundation, “between 1988 and 2010 the human genome sequencing projects, associated research and industry activity – directly and indirectly – generated an economic (output) impact of US$ 796 billion, personal income exceeding US$ 244 billion, and 3.8 million job‐years of employment”.1 More recently, countries such as Malaysia and China registered up to 2.5% growth in this sector, while the USA and India saw between 15-20% growth in their national genetic industries during 2010.2 With the potential to spur new job creation and billions in economic activity, genetics provides a promise of new growth and innovation for countries around the world.
Genetics can be thought of as having reached the same point today as the computer industry did in the 1970s, when the two previous decades had created a foundation through research and large government projects. However, in the case of computers, a shift in technology triggered a migration from research to mainstream applications creating an era of huge economic growth with far-reaching societal impact. Specifically, the triggers were microprocessor technology from Intel and the personal computer from Apple, introducing affordable and easy-to-use computers and enabling distributed deployment and greater utility.
In much the same way, the past two decades have developed the foundation for a genetics industry, and companies are indeed introducing the disruptive technology that enables broad deployment and application of DNA-sequencing technology and allied methods to open up new applications and markets.3 In the case of genetics, the trigger has been the development of technologies from various fields that reduce the cost of applying genetics to real-life problems such that the benefits heavily offset the costs. The sequencing of the first human genome took 13 years and cost US$ 2.7 billion. Researchers can now sequence a human genome in less than two weeks for a fraction of that cost – in the autumn of 2011, a sequence cost US$ 7,700. The extraordinary advances in DNA-sequencing technologies are accelerating discoveries across all areas of biomedical research and are invigorating genomics-oriented translational research.
Yet, to fully realize the potential of genetic technologies for society and the economy, several challenges must be addressed by researchers, governments and businesses in partnership. On the one hand, there is a need for continued public education and awareness-raising among policy-makers on the applications of genetics. Regulation and advances in technology should build in measures to ensure that differing ethical and religious perspectives are respected. In addition, privacy issues regarding genetic data must be addressed. The lack of national or global policies regarding genetic issues, plus a confusing “spaghetti bowl” of data standards and intellectual property regimes for genetic material, are crucial aspects of the enabling environment which must be improved.
In this context, the incentives for genetic research, business development and investment may be inadequate. On the one hand, biotech is benefiting from an explosion of sequencing, sample preparation, and data management, and analysis/interpretation companies are being formed. However, the companies using these technologies still need to demonstrate that the genetics revolution is also improving their success rate and making a good return on investment (ROI). For most biotech or genetics companies, the ROI is difficult to assess and achieve in the short to medium term. In addition, some of the areas where genetic technologies would be extremely beneficial for public health or environmental sustainability do not yet offer sufficient ROI for companies to take on the risks of investments in R&D. Researchers could benefit from increased international collaboration, and from methodologies that facilitate translation of new findings into practical applications.
The Global Agenda Council on Genetics 2011 brought together a unique constellation of actors from different parts of the world, active in the genetics space – from researchers and scientists, to business representatives, doctors and public policy specialists. Their deliberations, agreements and disagreements resulted in the following set of ideas and key recommendations for action to facilitate the practical application of genetic research in society.
1. The potential of genetic knowledge for improving human sustainability – health, food and environment
All life forms are subject to the primacy of the genetic code (ATCG), which governs heritability, the ability to reproduce, and the propensity to evolve. Therefore, to understand and improve life forms for health, agriculture and biofuels, knowledge of their genomes becomes the critical enabling factor. While best known for their application to human health, genetic technologies have potential benefits that transcend applications in healthcare. As society faces the challenges of insufficient food production, environmental degradation, and renewable energy sourcing, genetics will become a survival tool for humanity.
As with other transforming technologies, industrialized and developing countries face similar incentives and limitations regarding genetics – the differences being ones of scale. Developing countries stand to save as much in costs from advances in genetic technology as industrialized countries, but face more severe financial limitations on their ability to invest in and develop genetics applications for health, food and the environment.
Genetics and Health: Currently, healthcare costs amount to an unsustainable 20% of global GDP.4 Genetic applications could lower these costs and make healthcare more effective through improving prevention, accurate diagnosis, and treatment of disease, while also personalizing treatment. The Beery’s case (twins with cerebral palsy) discussed in Annex 2 of this report, illustrates how genetic science will ultimately revolutionize medicine by making diagnosis more precise and helping to develop life-changing treatments. Genetic science can also help to develop new innovative therapies for disease, for example, the use of monoclonal antibodies against inflammatory and oncological diseases.5 Genetic science may also play an increasingly important role in global security through its potential to address emerging infectious disease threats.
At present, certain genetic technologies are already being widely used in healthcare – for example, in testing foetuses for genetic mutations, or in cancer diagnostics. Yet, the widespread deployment of genetics in public healthcare is currently severely limited.
The benefits for health of genetic science need not be exclusive to technologically advanced nations. In developing countries, genetic technologies might be even more fruitfully deployed to identify diseases, personalize treatments and identify the most cost-effective medicines for patients. For example, access to generic biopharmaceuticals made through genetic manipulation (such as insulin, interferons for the therapy of hepatitis C, anti-hepatitis B and HPV vaccinations, monoclonal antibodies, and so on) should be improved, possibly by encouraging local production of biosimilars no longer under patent protection. Emerging economies such as India, for example, have started to make large investments in genetic research and applications with the expectation that these will make healthcare costs more manageable .
However, costly and sophisticated genetic therapies may have less relevance for developing countries in comparison to certain basic preventatives, such as clean water and vaccination programmes. In such situations, personalized medicine may not be where genetic technologies stand to make the most impact on health in developing nations.
Genetics and Food:In the face of growing world population and demand for food, as well as the uncertain effects of climate change on food production, genetic science stands to play a crucial role in securing adequate food supplies in the future. Current genetic technologies can and do already improve yield as well as the nutritional content of food.6 There are widespread examples of the use of transgenic (GM) crops which promise lower environmental impact both in developed economies (USA, Canada, Australia) and less developed ones (Argentina, Brazil and some African countries). These examples of land used for big GM crops over long periods could provide further data as to whether GMOs present a threat to the environment or not , and whether they are comparable to, better than, or no worse in their environmental impact than the use of classical herbicides, fertilizers, etc.
In developed countries, where the quantity of food production is no longer a salient concern, genetic science has the potential to generate food that is better for human health. In many developing countries, where food security is the issue – i.e., the quality/abundance/reliability of food – genetic technologies can also improve crop abundance and resistance to pests and diseases. Given the rise of non-communicable diseases worldwide, particularly obesity and diabetes, the nutritional quality and composition of food is important for the citizens of developed and developing countries alike.
However, there are few new genetic-based companies currently operating in food production. The field is dominated by a handful of companies and their partners, and characterized by a few outstanding cases of monopolistic practices. These practices have fuelled negative news stories and turned public perception against the application of genetic technologies to food. The regulatory frameworks to which applications for commercial deployment of GMOs are submitted are very heterogeneous, often impractical and always extremely costly. This hinders the possibilities for small private entities to enter this competitive arena, substantially affecting not only the commercial development of the technologies, but also the basic research which supports it.
Likewise, food security is driven more by macroeconomics and politics than by the advance of technology. Whereas advances in healthcare driven by genetic technology are most promising, there are many fewer investments targeted at innovation in food security. There are arguments in favour of adapting the IP framework to create a more supportive R&D and investment environment to facilitate the development of new varieties of GMOs for food production. Plant biotechnology has been characterized as not so much suffering from high costs, as from difficulties in leveraging the technological expertise to develop new strains and adequate controls to ensure their safe release.
2. Genetics as a metaphor for technology in society
With such immense potential, is genetic technology to be the next iPad or V-chip?
Many new technologies with the potential to fundamentally alter how human society functions face similar trajectories and challenges. Like the transistor radio or the Internet, the field of genetics is at an inflection point where the costs have fallen and the technology has advanced sufficiently that it could – theoretically – be enabled as a technology for worldwide use. Yet, the interaction between genetic technologies, the public, and national and global policy frameworks has been limited. Thus far, genetic science has not delivered many of the high expectations generated for it.
The reasons for this failure will be examined in the following sections.
Deployment of new technologies: The spread – or deployment – of new technologies depends on interrelated factors. Even when a technology is identified as needed, there may be gaps in the ability to deploy it, due to deficiencies in its development or a lack of competencies required by users. Widespread ability to operate new technologies, such as those based on genetics, is key to ensuring their deployment and, in turn, receiving an adequate return on investment. Thus far, the necessary interrelated factors to deploy genetic technologies have not been adequately realized.
The spread of new technologies can follow two paths. On the one hand, technologies such as diagnostic technology, can be implemented and tested in an industrialized country before being transferred to developing countries. In this model, deployment depends on training and building capacity to take advantage of the opportunities, ideally with the support of government and/or private sector investment.
In a second model, technologies are developed locally, generating new knowledge and fostering further transfer to other countries. There are many promising examples around the world of such initiatives. In China, for example, a successful dialogue between central government and local authorities has led to the prioritization and development of genetic technologies.
However, although research and development of genetic technologies may be occurring in many locales worldwide, communication and cooperation among individual actors could be improved. The example of China’s forward-looking policies is also questioned on the basis of its apparent insularity. Moreover, a form of “regulation battle” (e.g., IP, FDA types of rule, and monopolies of GM seed commercialization) may develop, both in the agricultural and health applications of genetics. Such restrictions are legitimate means by which the industries that develop these products attempt to protect their interests, but can have a strong “slow-down effect”, similar to the case of the competition between iPad and other tablet devices.
Global policy and regulatory frameworks: Global regulatory and intellectual property policies clearly affect the pace of innovation in genetic technology and access to those developments. Legislation and incentives for innovation, patent protection and intellectual property in general, biologics and healthcare-related policies have an enormous impact on the development and roll-out of genetic technologies. In the face of genetic progress, governments must consider the economic health and spending consequences of policy locally and globally. Likewise, policy must take into account the incentives for genetics R&D and applications. To date, there is a patchwork of national policies, with no global framework and many gaps, which constitute a weak enabling environment for genetic technologies worldwide.
Return on Investment: In addition to better policy frameworks, the return on investment of genetic technologies should be better understood, as any case for increased resources and enabling policies would naturally be enhanced if a positive return on investment could be demonstrated.
Yet, quantifying the impact of genetic technologies is a challenge. The returns of these technologies are not measured only by their impact on global health and healthcare systems, but also by their effects on food production and the environment. Ambiguity is rife. For example, the role of genetic technologies in improving the cost-effectiveness of disease prevention is not yet clear because it is difficult to place a monetary value on prevention in healthcare. Likewise, the ability of genetic technologies to improve the quality of food is difficult to quantify – is it the increase in price of a food, or its improved nutritional value, that should be monetized – or both? In light of these ambiguities, some argue that the return on investment of genetic technologies could be better estimated by considering a technology’s ability to make healthcare or food security more efficient.
Notwithstanding the ambiguities regarding ROI, some research suggests that pharmaceutical companies are indeed seeing large returns on their investments in genetic technologies.
Research is expensive: The scalability of genetic applications is also limited by the high costs of research and development. Where the market does not set the right incentives, new partnerships are needed to find innovative ways to stimulate the development of low-cost applications with broader impact. Many useful examples of such partnerships are available in drug development and distribution initiatives in developing countries such as, for example, WIPO Re:Search, a new consortium of public and private sector partners operating around the world.7
Access to and sharing of data: A related issue is how to better manage the volume of data produced by genetic sequencing so that it can be immediately translated into useful, usable knowledge to drive technology. In this regard, it is important not only to have a wide database of information, but also to have sufficient computing power and algorithms to be able to process such large quantities of data and to extract true trends and meaningful analyses. Fortunately, solutions to the problems of storage and transfer of genetic data are greatly leveraged by the huge improvements in software and information technology over the past decade, and while this issue may remain in the short term, it is not likely to significantly limit the availability of genetic information in the future. Much more challenging will be understanding the impact of an individual’s genome on his or her pre-disposition to disease and response to therapies, and identifying new and effective individualized diagnostics and therapies. Perhaps most challenging will be establishing global standards for individual privacy while also allowing productive sharing of genetic information to enable responsible research and development.
Meanwhile, the absence of global harmonization of IPR– or of the harmonious implementation of existing IPR regimes – has an important impact on advances in genetic technologies. On this point, there is little consensus. On the one hand, some evidence suggests that exercising IPR may inhibit data-sharing and collaboration among researchers who cannot access patented material. On the other hand, intellectual property (IP) protection is part of the enabling environment for scientific and commercial activity, including research, development, production and distribution. The basic characteristic of IPR is to turn certain elements of knowledge or information into exclusive property rights by preventing competitors from using those elements in their own work.
Indeed, certain patenting practices may have already inhibited further progress in certain cases. For example, sequencing studies of certain strains of H1N1 virus have not been as transparent as they should have been. While advances in genetic technologies could be used to help prevent future pandemics and push forward vaccine strategies, patents on information regarding H1N1 trap these advances within individual countries because of perceived IP concerns. Intellectual property considerations have also tended to create incentives to monopolize useful genetic materials.
Notwithstanding the above, companies need some form of IP protection in order to take financial risks on R&D. One solution is to reward innovation and then give away the technology or product at an accessible cost, such as through the “prize” model used by X-Prize and other institutions. In order for genetic science to grow, incentives need to be aligned through consideration of the final recipients of this revolution.
An agreed global framework or understanding could encourage countries, with massive sequencing and other capacities, such as China, or pharmaceutical companies with privileged patents, to make information transparent and available when it could yield short-term public health benefits and the like. Provision of economic incentives for engaging in such cooperation might be worth examining.
Data Standards: Differing data standards among countries have also slowed down the ability of genetic researchers to communicate across national boundaries. A continuing lack of global data standards would render researchers and companies unable to “speak the same language”, thereby hindering global cooperation on genetic research and development. Institutionalizing key data standards at a global level would facilitate the further application of genetics to medicine and other fields.
3. Calls to Action: Recommendations of the Global Agenda Council on Genetics
In this context, the Global Agenda Council on Genetics calls on policy-makers, researchers, company executives and academics to take action on the following points:
Strengthen national policy-frameworks and global cooperation on genetic technologies
While national-level conditions may vary, governments worldwide should work towards a coherent regulatory framework to enable progress in genetic research and technology. National policies for genetic technology should consider elements such as innovation, patent and intellectual property protection, biologics, healthcare-related policies, and incentives. In addition, regulation to enable genetic diagnostics would be extremely relevant in certain countries.
In healthcare, genetic technologies will require new information processing and data analysis capabilities, and enhanced information availability for physicians and healthcare systems, as well as new methods of maintaining privacy and bioethics. Governments should foresee policy alterations to address these areas, insofar as they are able. A science-based assessment of the advantages and disadvantages of GM crops from the economic, health and environmental points of view should be encouraged at governmental level. Due consideration should be given to enhanced communication with the public, and adapting legislation and guidelines to regulate the use of modern biotechnology in agriculture in a way that protects human health and the safety of the environment, while providing the opportunity to access the benefits of biotechnology.
Achieving coherence across national domestic regulation will be challenging. In some large developing countries, governments have already developed their own regulatory frameworks, drawing at times on the models presented by Europe or the USA. Certain basic elements drawn from these frameworks could be agreed at the global level.
The private sector and government could improve their coordination on improving the development and regulation of genetic technologies. Government can support the field by providing incentives and disincentives to the system.
Improve access to, and sharing of, data
Over time a number of additional policy and regulatory frameworks have been developed to improve the use of IP through access to knowledge. These should be further developed and expanded worldwide.
The US Bayh Dole Act of 1980 is a well-known example of a policy that fostered university-industry collaboration. Similarly, a number of collaborative models also exist that have led to creative use and sharing of intellectual property, such as public-private partnerships, particularly product development partnerships in the health sector. For example, NIH has a policy to facilitate the sharing of genomic data to advance discoveries of basic biological processes affecting human health and to improve the prediction of disease.
Data sharing frameworks that enable controlled access to patient phenotypic data will drive the utility of whole genome sequencing. An example of such a framework is the i2b2 (Informatics for Integrating Biology and the Bedside, http://www.i2b2.org). This is an NIH supported National Center for Biomedical Computing initiative that is developing a scalable informatics framework designed for translational research, that will enable clinical researchers to use existing clinical data for discovery research. When combined with IRB-approved genomic data, it will facilitate the design of targeted therapies for individual patients with diseases having genetic origins.8
Another example is WIPO Re:Search, a voluntary consortium involving WIPO, BIO Ventures for Global Health (BVGH), private sector companies, and public sector and academic research institutions, with the World Health Organization providing technical advice. WIPO Re:Search provides a platform for public and private sector organizations to make IP know-how and expertise available to the global health research community and so promote development of new drugs, vaccines, and diagnostics to treat malaria, tuberculosis, and the neglected tropical diseases. Another example is UNITAID. Established in 2010, this foundation aims to expand access to anti-retrovirals (ARVs) for treating HIV/AIDS in low- and middle-income countries. To this end, UNITAID is negotiating with patent holders (companies, researchers, universities and governments) to share their intellectual property .
Develop basic, common data standards for global use
In the same way that GSM technology and the Internet required a “common language” to go global, short-term data-sharing should be developed to serve the genetic research and development industries. Nations should establish a global body to set “common data standards” that can be built into existing and future genetic research such that it can be shared smoothly across national boundaries.
Global and transparent data standards should be developed to show how the data is appointed: incorporating discreet data elements to represent genetic findings and descriptors of the metrics that are built in. This would facilitate learning, application and utilization, thereby escalating the implementation of genetic technologies worldwide. Such standards could take into consideration computational standards for setting and fixing algorithms for analysis. The standards would need to be dynamic, in order to adapt to the pace of genetic research which makes fresh discoveries nearly every day. The standards should consider the establishment of incentives, so that players support them.
However, to avoid placing constraints on countries, global data standards would have to incorporate some degree of flexibility for national conditions, in order to avoid encumbering developing countries with expectations not adapted to local criteria or rules not within their reach. While the standards should aim high on quality, they should incorporate measures to allow applicability to distinct environments. Furthermore, because genetic technology is a new field, the imposition of standards may limit its organic development.
Annex 1 – Drug Development Between 1970-20009
The early days of genetic engineering driven production tells a great deal. The advent of genetic engineering in the early 1970s gave scientists the tools to produce large quantities of naturally occurring proteins beneficial in treating many diseases. Insulin was the first genetically engineered drug to be produced on an industrial scale and approved by the Food and Drug Administration (FDA). Since insulin, many other recombinant proteins have been developed as novel pharmaceuticals. To date, more than 20 biotech drugs have obtained FDA approval and are presently used in clinical practice in all leading countries. A partial list of the most interesting drugs approved by FDA includes: Erythropoietin, Granulocyte Colony Stimulating Factor, Alfa-Interferon, Beta-Interferon, Human Growth Hormone, and Thrombopoietin. The vast majority of the most important biotech products presently on the market were discovered, developed and approved for human use between 1978 and 1993, as shown in the following table.
Product Year of US Regulatory Approval
Human Growth Hormone 1985
Hepatitis B Vaccine 1986
Granulocyte Colony Stimulating Factor 1991
Annex 2: Case Study. Genomics and the Beery Twins10
A pair of 14-year-old twins, Alexis and Noah Beery, provide a compelling example. The twins were diagnosed with cerebral palsy at the age of two. But their mother, Retta Beery, did not think the diagnosis was correct. At 14, Noah had hand tremors, awkwardness and attention problems. More alarmingly, Alexis had breathing problems due to spasms in her larynx. At 13 she had developed a cough and a breathing problem so severe that her parents placed a baby monitor in her room just to make sure she would survive the night. She would often cough so hard, and for so long, that she would throw up, and had to take daily injections of adrenaline to keep breathing. The doctors weren’t sure what was wrong, but when they probed for an explanation of these symptoms, the twins tested positive for known mutations of two genes known to be involved in a rare condition, dopa-responsive dystonia (DRD).
Scientists at Baylor College of Medicine, a pioneer in whole-genome sequencing, sequenced the genomes of the twins, their older brother, their parents, and their grandparents. Whole-genome sequencing ultimately enabled doctors to provide the Beery twins with a simple, highly effective treatment. Comparing the sequence results, the researchers found that the twins had both inherited a gene variant from each parent that, together, led to their having low levels of not only dopamine, but two other neurotransmitters, serotonin and noradrenalin.
The twins’ neurologist, Jennifer Friedman of Rady Children’s Hospital in San Diego, suggested giving the teenagers the supplement 5-HTP, a precursor for serotonin production.
Together with L-dopa, the additional supplement has improved Alexis’s breathing to the point that she’s now running on track again. Noah’s handwriting and athletic performance have improved, and he’s better able to focus in school.
The Beery’s case shows how genomics can potentially revolutionize medicine by making diagnosis more precise and suggesting life-changing treatments. Other cases are beginning to come to light, such as a Wisconsin boy whose rare disease was diagnosed by whole-xeome sequencing and subsequently treated with a bone marrow transplant.
The opinions expressed here are those of the individual Members of the Council and not of the World Economic Forum or any institutions to which they are affiliated.