File Name: the language of life dna and the revolution in personalized medicine 2011 .zip
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- Francis Collins
- Personalized medicine could transform healthcare (Review)
- Francis Collins
National Center for Biotechnology Information , U. Journal List Genom Soc Policy v.
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A confluence of advances in biological science and accelerating development of computing, automation, and artificial intelligence is fueling a new wave of innovation.
This Bio Revolution could have significant impact on economies and our lives, from health and agriculture to consumer goods, and energy and materials.
Some innovations come with profound risks rooted in the self-sustaining, self-replicating, and interconnected nature of biology that argue for a serious and sustained debate about how this revolution should proceed.
The risks are particularly acute because many of the materials and tools are relatively cheap and accessible. Moreover, tackling these risks is complicated by a multiplicity of jurisdictional and cultural value systems, which makes collaboration and coordination across countries difficult.
The rapid spread around the world in spring of a new coronavirus—SARS-CoV-2—imposed heavy health and economic costs. While the impact of COVID 19 was still unfolding at the time of writing in April , bio innovations had been deployed to aid the response.
More needs to be done to cope effectively with pandemics of this nature, but here we share a snapshot of some of the contributions made by advances in biological science that we observed in the early days of this pandemic. Advances in nucleic acid-based diagnostics have enabled more effective diagnosis. In the past decade, for instance, the continued miniaturization of reverse transcription polymerase chain reaction RT-PCR machines made the technology more accessible for use in the field.
The speed of the diagnostics also significantly improved. However, the many challenges with diagnosis during the COVID 19 crisis also highlighted the fact that ample room remains for further improvement of diagnostics. The speed and scale at which researchers launched efforts to develop a COVID 19 vaccine was remarkable.
As of April —around three months after SARSCoV-2 was sequenced—more than 60 vaccines were in the preclinical stage and seven were in Phase 1 trials, although whether these efforts prove successful remained unclear.
In contrast, it took more than a year after the Zika epidemic began in to start Phase 1 trials. New capabilities assisted in developing new treatments for those infected. Genetically engineered animals were used to develop potential therapies, including using mice to produce monoclonal antibodies and cows to produce polyclonal antibodies.
Monoclonal antibodies are man-made antibodies of predetermined specificity against targets made by identical immune cells derived from a unique parent cell. Patient gene expression mRNA profiles were gathered into a biobank with the aim of using the repository to identify new therapies. RNA interference RNAi is an evolutionarily conserved gene silencing technique in which specific genes can be regulated and suppressed at the RNA level. T-cells are lymphocyte immune cells that protect the body from pathogens and cancer cells.
The efficacy of such treatments remained to be proven as of April Genomics was used to try to uncover population-level insights. In the case of SARS-CoV-2, its genome was regularly sequenced in different geographies and hotspots to look for mutations that could indicate its place of origin and transmission dynamics.
More clearly needs to be done to improve our collective response to dangerous pandemics such as COVID Bio innovations are ongoing, and the way we respond to future pandemics may look very different. For instance, in the future it may be possible to leverage emerging technologies such as AI-enabled epidemiology to predict outbreaks or use algorithms to predict the structure of proteins to enable faster drug discovery.
Predicting the structure makes it easier to design drug molecules that are more likely to bind to the protein. However, new biological applications are already improving our response to global challenges including climate change and pandemics. Global responses to the novel coronavirus—SARS-CoV-2—illustrated substantial advances in biological science in just the past few years. However, sequencing is just the start: biological innovations are enabling the rapid introduction of clinical trials of vaccines, the search for effective therapies, and a deep investigation of both the origins and the transmission patterns of the virus.
The potential scope and scale of the direct and indirect impact of biological innovations appear very substantial. As much as 60 percent of the physical inputs to the global economy could be produced biologically.
Around one-third of these inputs are biological materials such as wood. The remaining two-thirds are not biological materials, but could, in principle, be produced using innovative biological processes for instance, bioplastics.
A pipeline of about use cases, almost all scientifically feasible today, is already visible. More than half of this direct impact could be outside human health in domains such as agriculture and food, consumer products and services, and materials and energy production. Taking into account potential knock-on effects, new applications yet to emerge, and additional scientific breakthroughs, the full potential could be far larger. The current innovation wave in biology has been propelled by a confluence of breakthroughs in the science itself, together with advances in computing, data analytics, machine learning, artificial intelligence AI , and biological engineering that are enabling and accelerating the change.
This revolution has been decades in the making. Advances in lower-cost and high-throughput screening have helped lower the costs of entry, accelerate the pace of experimentation, and generate new forms of data—to help us better understand biology.
Innovations are grouped into four arenas: 1 biomolecules—the mapping, measuring, and engineering of molecules; 2 biosystems—the engineering of cells, tissues, and organs; 3 biomachines—the interface between biology and machines; and 4 biocomputing—the use of cells or molecules such as DNA for computation Exhibit 1.
Major breakthroughs in each of the four arenas are reinforcing one another. In biomolecules and biosystems, advances in omics and molecular technologies are enhancing our understanding of biological processes, as well as enabling us to engineer biology.
The ability also exists to engineer or modify a living cell to cure or prevent disease; for example, the groundbreaking CRISPR tool allows scientists to edit genes more quickly and precisely than previous techniques. Essentially the same process is being applied to manufacturing everything from textiles to meat.
Advances in biomachines and biocomputing both involve deep interaction between biology and machines; it is becoming increasingly possible to measure neural signals and power precise neuroprosthetics. The storage density of DNA is about one million times that of hard-disk storage. New biological capabilities have the potential to bring sweeping change to economies and societies:. Fermentation, for centuries used to make bread and brew beer, is now being used to create fabrics such as artificial spider silk.
Some companies are already using genetically engineered microbes to create biofuels for the aviation and marine industries. Increased control and precision in methodology is occurring across the value chain, from delivery to development and consumption with more personalization.
Increasing knowledge of human genomes and the links between certain genes and diseases is enabling the spread of personalized medicine and precision agriculture.
The capability to engineer and reprogram human and nonhuman organisms is increasing. Gene therapies could offer complete cures of some diseases. Crops can be genetically engineered to produce higher yields and be more heat- or drought-resistant, for instance—traits that are becoming even more important given climate change. Biotech companies and research institutes are increasingly using robotic automation and sensors in labs that could increase throughput up to ten times.
Potential is growing for interfaces between biological systems and computers. A new generation of biomachine interfaces relies on close interaction between humans and computers. Such interfaces include neuroprosthetics that restore lost sensory functions bionic vision or enable signals from the brain to control physical movement. Biocomputers that use biology to mimic silicon are being researched, including the use of DNA to store data. For this research, a library of about use cases was compiled that already constitute a visible pipeline for the years ahead.
The library comprises applications that are scientifically feasible today and likely to be commercially viable by Human health and performance has the clearest pipeline from research to commercialization.
The science is advanced, and the market is generally accepting of innovations. However, more than half of the direct impact of the applications in the library over the next ten to 20 years is likely to be outside health, primarily in agriculture and consumer products Exhibit 2.
Human health and performance. Applications include cell, gene, and RNA therapies to treat or even prevent disease, a range of anti-aging treatments to extend lifespans, innovations in reproductive medicine, and improvements to drug development and delivery and new predictive modelling of human health and disease.
Many more options are being explored and becoming available to treat monogenic caused by a single gene diseases such as sickle-cell anemia, polygenic diseases such as cardiovascular disease, and infectious diseases such as malaria. Agriculture, aquaculture, and food. Applications in this domain include innovative new ways to conduct breeding of animals and plants using molecular or genetic markers that are many times quicker than established selective-breeding methods; new, more precise tools for the genetic engineering of plants; fast-developing work using the microbiome of plants, soil, animals, and water to improve the quality and productivity of agricultural production; and the development of alternative proteins including lab-grown meat.
Consumer products and services. Opportunities are opening up to use increasing volumes of biological data to offer consumers personalized products and services based on their biological makeup. Applications in this domain include direct-to-consumer genetic testing, beauty and personal care increasingly based on increased knowledge of the microbiome as microbiome testing spreads, and innovative approaches to wellness or fitness not only in humans but in pets.
Materials, chemicals, and energy. New biological ways of making and processing materials, chemicals, and energy could transform many industries and our daily lives, although the economics are challenging. Applications in this domain include innovations related to production of materials such as improved fermentation processes, new bioroutes utilizing the ability to edit the DNA of microbes to develop novel materials with entirely new properties self-repairing fabrics is one example , and building on advances in biofuels to innovate new forms of energy storage.
Biology has many other potential applications, although some of these are likely to be further in the future. It could be deployed to help the environment through biosequestration—using biological processes to capture carbon emissions from the atmosphere—and bioremediation.
Impact is also emerging in biomachine interfaces and biocomputing where the science and development is at an early stage but applications are promising. Applications that have already been developed include neuroprosthetics to restore hearing and vision. The direct potential impact of the around use cases may only be a small portion of the potential scale of impact.
Many other innovations are being developed in private labs or in the defense industry where developments remain confidential for commercial or national security reasons. Eventually impact will radiate out to almost every sector of the economy with effects on societies and the environment as biological innovation transforms profit pools, value chains, and business models.
In the years ahead, if you are not using biology to make products, you will very likely be consuming them. The impact could go much further, with biology potentially being used to address some of the great challenges of our time including mitigating climate change. By to , the direct applications we sized could reduce annual average man-made greenhouse-gas emissions by 7 to 9 percent from emissions levels.
Profound risks accompany this surge of innovation in biology. Get it right and the benefits could be very significant; get it wrong and there could be disastrous consequences at the population level. These risks introduce a unique set of considerations which, if not managed properly, could potentially outweigh the promised benefits of a particular application:.
These risks demand a considered response and potentially new approaches. In past waves of technological change, regulation has emerged in response to innovations; in biology, there is a strong argument for a proactive approach.
Regulation will be important, but so too will oversight and monitoring of science even as it develops. The choices scientists make will help determine what kinds of technologies develop.
Risks need to be addressed, but beyond that there are many stages to negotiate as innovations move from the lab to adoption.
The journey to adoption has three broad stages: scientific research; commercialization; and then diffusion.
Personalized medicine PM is currently a particularly novel and exciting topic in the medicine and healthcare industries. It is a concept that has the potential to transform medical interventions by providing effective, tailored therapeutic strategies based on the genomic, epigenomic and proteomic profile of an individual, whilst also remaining mindful of a patient's personal situation. The power of PM lies not only in treatment, but in prevention. Increased utilisation of molecular stratification of patients, for example assessing for mutations that give rise to resistance to certain treatments, will provide medical professionals with clear evidence upon which to base treatment strategies for individual patients. With this development, there will no longer be a dependence on the adverse outcomes of trial and error prescribing methods 1 , 2. Currently, when prescribed medication is not effective, the patient may switch to a different medication. This trial and error approach leads to poorer outcomes for patients, in terms of adverse side effects, drug interaction, potential disease progression whilst effective treatment is delayed and patient dissatisfaction 3.
Download to read the full article text. Correspondence to Hub Zwart. This article is published under an open access license. Please check the 'Copyright Information' section either on this page or in the PDF for details of this license and what re-use is permitted. If your intended use exceeds what is permitted by the license or if you are unable to locate the licence and re-use information, please contact the Rights and Permissions team. Zwart, H. The Language of Life.
The Language of Life. DNA and the revolution in personalized medicine. Francis S. Collins. New York etc.: Harper, HUB ZWART1,2. A lot has been written.
Personalized medicine could transform healthcare (Review)
We are in the midst of a medical revolution: in just a few years, we will be able to have our complete DNA sequenced at an affordable cost. Analysing the content of our genomes will allow a powerful estimate of our future risks of illness - from cystic fibrosis and Huntington's disease, to cancer and diabetes - which will help us devise our own personalised blueprint of preventive medicine. This will have enormous implications on everything from our day-to-day choices like diet and exercise, to childbearing and health insurance - and it may even challenge what we thought we knew about our ethnic histories.
Between and , the Nobel Prizes and the Prize in Economic Sciences were awarded times to people and organizations. With some receiving the Nobel Prize more than once, this makes a total of individuals and 25 organizations. Below, you can view the full list of Nobel Prizes and Nobel Laureates. Harvey J.
In , he co-authored with Francis Crick the academic paper proposing the double helix structure of the DNA molecule. Watson, Crick and Maurice Wilkins were awarded the Nobel Prize in Physiology or Medicine "for their discoveries concerning the molecular structure of nucleic acids and its significance for information transfer in living material". In subsequent years, it has been recognized that Watson and his colleagues did not properly attribute colleague Rosalind Franklin for her contributions to the discovery of the double helix structure. From to , Watson was on the faculty of the Harvard University Biology Department, promoting research in molecular biology. At CSHL, he shifted his research emphasis to the study of cancer , along with making it a world-leading research center in molecular biology. In , he started as president and served for 10 years. He was then appointed chancellor, serving until he resigned in after making comments claiming that there is a genetic link between intelligence and race.
The Language of Life: DNA and the Revolution in Personalized Medicine [Collins, Francis in Personalized Medicine Paperback – Illustrated, January 18,
Available in full. Pellionisz HolGen Technology, Inc. Proceedings here comprise the presented decade-young science foundation by FractoGene with the first independent experimental proof of concept announced at the time of the lectures.
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