Abstract
“You can't say A is made of B or vice versa. All mass is interaction.”
Richard Feynman (1918–1988)
Nobel Prize Winner in Physics, 1965
Precision Medicine 2.0
T
Often perceived as a new field, precision medicine actually rests on related and much older fields of expertise, including the science of deciphering the causes of variability among persons and populations. After sequencing the Human Genome, the variability causes for n = 1 have been thoroughly studied with regards to susceptibility to disease and environmental exposures such as medicines, radiation, infectious agents, and so on. In fact, understanding and diagnosing individual variability in health and disease have been a preoccupation for time immemorial. The Babylonians and Sumerians utilized urine to diagnose the health status of individuals as early as 4000 BCE, whereas Hippocrates (460—ca. 370 BCE, the Island of Cos, Greece) suggested the presence of bubbles in the urine as an indication of chronic kidney disease. Establishing infrastructures for clean drinking water and sewage systems paved the way for modern public health. Archibald Garrod (1857–1936) pushed the boundaries of public health to a higher resolution—that of a single individual person. Garrod suggested that biologically unique features of a given person are responsible for inborn errors of metabolism such as alkaptonuria. We have learned since then that such uniqueness is not only due to individual genetic makeup but also due to unique environmental exposures and signatures each of us harbor such as the resident microbiome on our skin and gut. Moreover, sociology of science has taught us that scientific knowledge and innovations are not purely technical acts; they are contingent on and shaped by social, political, and material contexts and by values, power, and time (Bourdieu and Wacquant, 1992; Özdemir and Kolker, 2016; Wynne, 2009).
Hallmarks of a “2.0 Design” for Innovation
Glocal innovation and design thinking
Looking back over many centuries of scientific, as well as traditional, lore that preceded the modern precision medicine efforts, the future bottlenecks rest on the tensions and opportunities emergent from the intersection of the technical and social forces, as well as the global and local (glocal) context attendant to knowledge-based innovations. Precision Medicine 2.0, a concept we describe and advocate for in this analysis, aims to capture the very characteristics of “design thinking”: a multidisciplinary, glocal, systems scale, reflexive, and sociotechnical approach to precision medicine. Precision Medicine 2.0 is sensitive to local context, displays reflexive thinking to be aware of cognate societal implications and responsibilities emergent from innovations, divergent (challenging the status quo knowledge) to stimulate individual creativity, independent thought and disruptive innovation, and yet convergent so as to achieve collective action to bring scientific discoveries to scale.
While the early 20th century science practices have tended to be locally confined, be they design or knowledge diffusion, science has become global and massively networked onward from the 1990s, with broad availability of Internet and digitalization of knowledge. Yet, as hinted in the preamble to this editorial by the late Nobel Laureate Richard Feynman, a narrow disciplinary take and neither global nor local science are sufficient to achieve Precision Medicine 2.0 (Özdemir et al., 2016). Local context brings about the crucial meaning that drives translation of science to products that make sense to local users. A global vision is necessary to avoid the trap of narrow vision and disciplinary entrenchment that can inhabit any local or regional context. Some scholars have suggested that glocalization is the way that globalization actually operates in practice (Swyngedouw, 2004). In short, we argue that the future of precision medicine rests in our ability to bring global and local knowledge in close proximity, toward glocal innovation.
Superconnectors and networking 2.0
Communication sciences and network society are the pillars and drivers of such glocal innovation. Nowadays, thousands declare themselves as “networkers” with many people having more than 500 LinkedIn connections. In this context, we caution against a common misunderstanding about “networking” in science that can work to the detriment of responsible innovation and the vision of Precision Medicine 2.0 as proposed in this analysis. A number one problem with casual networking is that people tend to be out to advance their own agendas. For truly glocal Precision Medicine 2.0 innovation, we propose that we also need “Networking 2.0” where individual gains are reflexively situated and responsibly counter-balanced within a broader set of collective gains and priorities (Bourdieu and Wacquant, 1992; Özdemir et al., 2015), especially in the current era of the United Nations Sustainable Development Goals, and a planet exhausted with overconsumption, unsustainable use of natural resources, and societal conflicts.
Superconnectors are not self-occupied networkers with a firm handshake. Instead, superconnectors are broadly informed and reflexive scholars who practice Networking 2.0 by considering personal or career targets together with collective responsibilities, be they societal, environmental, or planetary, in the course of scientific and professional networking (Özdemir et al., 2015). Responsible innovation is a related concept that underscores innovations, too, can be irresponsible if they work to the detriment of society and sustainable development.
The current special issue of OMICS: A Journal of Integrative Biology presents you with the latest advances in Precision Medicine 2.0, highlighting the glocal advances in the field at the intersection of global and local science, and helping to advance responsible Networking 2.0 for the integrative biology community.
Omics Special Issue
The Precision Medicine 2.0 special issue reports, in part, on the First Pharmacogenetics and Precision Medicine Conference in the African continent, held in Cape Town from April 7–9, 2016 (www.pharmacogenetics-conference.uct.ac.za). The conference took on a global approach to the growing contribution of genomic information and biotechnology tools to the way innovative medicines are developed, regulated, and prescribed to patients. With the theme “Going back to our roots to find biomarkers of disease susceptibility and drug response,” the conference was attended by an audience of nearly 150 delegates from around the world, including Africa, Brazil, Europe, and the United States. Hence, the Precision Medicine 2.0 special issue debuts with the conference report by Dandara et al. Soko et al. describe the growing pandemic of noncommunicable diseases in the developing world, Africa in particular, using the example of cardiovascular diseases and rosuvastatin, a statin drug. Highlighting the qualitative and quantitative differences on the distribution of pharmacogenetic variants that affect efficacy and toxicity of rosuvastatin locally in Africa, as well as globally, they suggest that rosuvastatin could serve as a veritable glocal model to offer pharmacogenetics-guided optimal therapeutics in developing and developed regions of the world.
Murthy et al. report a comprehensive profile of the global proteome of the healthy human iris tissue in a sample from India. They make a call that is significant on three counts. First, it is noteworthy that the annual economic burden of the visual disorders in the United States was estimated at $139 billion. The application of precision medicine in ophthalmology has lagged behind compared to other medical fields such as oncology. The study by Murthy et al. begins to address this gap in the precision medicine literature with a view to ophthalmology and visual health. Second, the study shows the potential of postgenomic technologies such as proteomics to bridge the gap between genomic structure and physiological function in the pursuit of precision medicine diagnostics. Third, as noted in previous issues of OMICS, India had a long-standing commitment to proteomics technology through persistent science policy, thus, continuously bringing together investments and local expertise in proteomics in India and the international proteomics science community. Murthy et al. therefore make a contribution toward glocal innovation in effective use of proteomics for Precision Medicine 2.0.
Rahim et al. report on genetic variation in angiogenesis-associated signaling pathways in relation to Achilles tendinopathy, a common tendon injury. Their study is composed of two independent samples from South Africa and United Kingdom, thereby advancing glocal knowledge in that field. The authors underscore that sports and exercise medicine is one of the important subspecialties of 21st century healthcare, contributing to improving the physical function, health, and vitality of populations, while reducing the prevalence of lifestyle-related diseases. Yet, similar to the case with visual health, the sports and exercise medicine field has had fewer applications of precision medicine and omic technologies. The study by Rahim et al. therefore begins an important dialogue in the sports and exercise medicine toward Precision Medicine 2.0 insights and future applications.
We shall note that the concept of “glocal knowledge” applies not only to the confluence of global and local knowledge but also to the intersections of mainstream and fringe academic knowledge. Both visual health and sports and exercise medicine fields are situated in a relatively fringe position with respect to the mainstream precision medicine literature. Hence, the reports by Murthy et al. and Rahim et al. further advance the multidisciplinary glocal Precision Medicine 2.0 scholarship and innovation.
Thomford et al. aptly remind us that Precision Medicine 2.0 demands not only of omic technologies but also advances in high-throughput phenotyping and knowledge of drug–medicinal plant interactions that can render therapeutic outcomes entirely unpredictable. The authors examine the potential anticancer effects of the African lettuce (Launaea taraxacifolia) in a cell culture model while also reporting on the effects of this widely cultivated and used medicinal plant on several salient drug metabolism pathways. By bringing to the fore the previously neglected role of medicinal plants in precision medicine in Africa and globally, they contribute to glocal Precision Medicine 2.0 literature in a timely manner.
Aklillu et al. and Hoosain et al. report on the SLCO1B1 genetic variation in understudied world populations with a view to global precision medicine. It is noteworthy that despite large-scale international consortia on human genomic or other omic variation, the global “variome” contributing to individual and population differences in drug response is not yet fully characterized, still warranting the study of neglected or understudied populations. The solute carrier organic anion transporter family member 1B1 (SLCO1B1) gene encodes for a membrane-bound organic anion transporter protein involved in active cellular influx of many endogenous compounds and xenobiotics. SLCO1B1 genetic variation is associated, for example, with highly variable rifampicin exposure, thus influencing the cornerstone antituberculosis therapy especially in sub-Saharan Africa where it is a key therapeutic modality. These observations are timely in the current era of Big Data as well. The latter often suffers from “claim to veracity by volume”—the false assumption that a large dataset is invariably more objective, for example, due to larger statistical sample size. That is, large sample sizes are desirable to the extent that they are also representative of the existing full range of diversity and that the volume of Big Data is not driven by a select few populations. By reporting new data from understudied and neglected world populations, as in the two reports by Aklillu et al. and Hoosain et al., the “value-of-information” we can obtain from Big Data on precision medicine will be higher and stands a chance to become more robust.
Conclusions
Disruptive innovations break with past practices, processes, or products and, by definition, tend to be unprecedented. Hence, the elusive processes underpinning knowledge-based innovations cannot always be precisely mapped. Nonetheless, we can create a fertile ground to cultivate innovations and ensure they steer toward outcomes that are socially responsible, inclusive, and grounded in societal values.
We anticipate that the emerging concept of Precision Medicine 2.0, by virtue of bringing together global and local advances not to mention scientific networks that share a firm commitment to responsible innovation and multidisciplinary inquiry, will help catapult precision medicine from theory to practice as evidenced by the scholarly reports presented in this special issue. The US Precision Medicine Initiative has set important precedent in 2015 for robust investments in life sciences innovation. We are optimistic that similar initiatives on precision medicine will be developed and adopted by other countries in the near future.
Stay tuned for more Precision Medicine 2.0 research and perspectives in the coming issues!
Footnotes
Acknowledgment
No funding was received in support of this editorial and innovation analysis. The views expressed represent the personal opinions of the authors and do not necessarily reflect the positions of their affiliated institutions.
Author Disclosure Statement
The authors declare no conflicting financial interests exist.