Deflating the Genomic Bubble

Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Science (Impact Factor: 31.48). 02/2011; 331(6019). DOI: 10.1126/science.1198039
Source: PubMed
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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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    • "At the initiation of the Human Genome Project (HGP), it was anticipated that a map of the human genome would allow for a next generation of treatments for diseases with a genetic base. However, if the HGP is judged by this narrow promise alone, it has been a failure (Butler, 2010; Wade, 2010; Evans et al., 2011). Although such criticisms of the HGP are premature – mapping was completed over a decade ago and drug development can require 10–20 years – they allude to a more compelling intellectual development. "
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    • "Even though most CPMC enrollees were motivated to pursue testing by a desire to improve their health, our qualitative data show that taking action, either by sharing results with a healthcare provider, or by changing lifestyle, was not a universal response to CPMC genomic testing, despite the fact that nearly all CPMC participants are given results indicating that they are at increased risk for at least one disorder. Given the poor predictive power and relatively low relative risk of the genetic variants included in the testing offered through the CPMC, as suggested by Evans, (Evans et al., 2011), participants' decisions to not act on their results may actually be appropriate. Consistent with our data, McGowan and colleagues have suggested that many early adopters of DTC genomic testing have expressed disappointment with results that provide limited additional information about health risks. "
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    ABSTRACT: The value of genomic risk assessment depends upon patients making appropriate behavioral changes in response to increased risk leading to disease prevention and early detection. To date, few studies have investigated consumers' response to personalized genomic disease risk information. To address this gap, we conducted semi-structured interviews with 60 adults participating in the Coriell Personalized Medicine Collaborative. The interviews took place after receiving results providing genomic and other risk information for up to eight common complex diseases. We found that participants were most likely to recall results which conferred an increased risk or those of particular personal interest. Participants understood the multi-factorial nature of common complex disease, and generally did not have negative emotional responses or overly deterministic perceptions of their results. Although most participants expressed a desire to use results to improve their health, a minority had actually taken action (behavior change or shared results with their doctor) at the time of the interview. These results suggest that participants have a reasonable understanding of genomic risk information and that provision of genomic risk information may motivate behavior change in some individuals; however additional work is needed to better understand the lack of change seen in the majority of participants.
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