Deflating the Genomic Bubble

Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Science (Impact Factor: 33.61). 02/2011; 331(6019). DOI: 10.1126/science.1198039
Source: PubMed


Unrealistic expectations and uncritical translation of genetic discoveries may undermine other promising approaches to preventing disease and improving health.

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    • "However, while there has been rapid progress in genome technologies and knowledge e for example, the use of sequencing for the diagnosis of rare disorders (Yang et al., 2013) e it is still a nascent field, as yet unable to interpret much of the information generated because of technological, database, and knowledge limitations (Timmermans, 2015). Yet while the wideranging promises of genomics for personalized medicine and clinical care are far from being realized (Evans et al., 2011; Manolio et al., 2013), belief in the potential of genomic medicine for health care, and the investments driven by that belief, remain largely undiminished (e.g., Carlson, 2013; Carrel, 2014). Against this backdrop, particular emerging technologies have given rise to what Martin et al. (2008) term " promissory bioeconomies , " in which " hope itself is being capitalized as the basis of "
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    ABSTRACT: Genomic research has rapidly expanded its scope and ambition over the past decade, promoted by both public and private sectors as having the potential to revolutionize clinical medicine. This promissory bioeconomy of genomic research and technology is generated by, and in turn generates, the hopes and expectations shared by investors, researchers and clinicians, patients, and the general public alike. Examinations of such bioeconomies have often focused on the public discourse, media representations, and capital investments that fuel these “regimes of hope,” but also crucial are the more intimate contexts of small-scale medical research, and the private hopes, dreams, and disappointments of those involved. Here we examine one local site of production in a university-based clinical research project that sought to identify novel cancer predisposition genes through whole genome sequencing in individuals at high risk for cancer. In-depth interviews with 24 adults who donated samples to the study revealed an ability to shift flexibly between positioning themselves as research participants on the one hand, and as patients or as family members of patients, on the other. Similarly, interviews with members of the research team highlighted the dual nature of their positions as researchers and as clinicians. For both parties, this dual positioning shaped their investment in the project and valuing of its possible outcomes. In their narratives, all parties shifted between these different relational positions as they managed hopes and expectations for the research project. We suggest that this flexibility facilitated study implementation and participation in the face of potential and probable disappointment on one or more fronts, and acted as a key element in the resilience of this local promissory bioeconomy. We conclude that these multiple dimensions of relationality and positionality are inherent and essential in the creation of any complex economy, “bio” or otherwise.
    Social Science & Medicine 02/2015; 130C:146-153. DOI:10.1016/j.socscimed.2015.02.016 · 2.89 Impact Factor
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    • "Initial optimism about the prospect of genomic medicine has given way to the realization that clinical applications will be challenging to identify and implement [1,2]. Efforts to predict disease incidence or severity based on common genetic variants have shown limited success [1], raising questions about the utility of genomic applications in assessing risk for common health conditions. However, advances in pharmacogenetics have already led to treatment innovations in tertiary care contexts. "
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    ABSTRACT: Despite advances in characterizing genetic influences on addiction liability and treatment response, clinical applications of these efforts have been slow to evolve. Although challenges to clinical translation remain, stakeholders already face decisions about evidentiary thresholds for the uptake of pharmacogenetic tests in practice. There is optimism about potential pharmacogenetic applications for the treatment of alcohol use disorders, with particular interest in the OPRM1 A118G polymorphism as a moderator of naltrexone response. Findings from human and animal studies suggest preliminary evidence for the clinical validity of this association; on this basis, arguments for clinical implementation can be made in accordance with existing frameworks for the uptake of genomic applications. However, generating evidence-based guidelines requires evaluating the clinical utility of pharmacogenetic tests. This goal will remain challenging, largely due to minimal data to inform clinical utility estimates. The pace of genomic discovery highlights the need for clinical utility and implementation research to inform future translation efforts. Near-term implementation of promising pharmacogenetic tests can help expedite this goal, generating an evidence base to enable efficient translation as additional gene-drug associations are discovered.
    Addiction science & clinical practice 09/2014; 9(1):20. DOI:10.1186/1940-0640-9-20
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    • "Piot [45] argued that these new technologies were essential for global public health, not just for high-income countries. The complete mapping of the human genome, begun in 1990 and finally achieved early this century, generated both great public interest and hopes for medical breakthroughs [46]. However, genomics has not lived up to these expectations, partly because of the 'complex interactions between multiple genes' [47]. "
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    ABSTRACT: Many observers see advances in technology as the key means for ensuring continued economic growth, and with it human progress as well. In particular, three modern technologies—biotechnology, information technology (sometimes including robotics and cognitive technologies) and nanotechnology—are seen by some researchers as converging and thus bringing about unprecedented benefits for humanity in the coming decades. The aim of this paper is to answer the question: can the on-going rapid advances in these new technologies lead to a better future for all? By examining three important sectors—transport, health/medicine, and agriculture/food—we show that application of these technologies are either largely irrelevant, too expensive, or too risky to meet the future needs of all humans in these sectors.
    Futures 01/2014; 55. DOI:10.1016/j.futures.2013.12.003 · 1.29 Impact Factor
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