Applying an Implementation Science Approach to Genomic Medicine Workshop Summary (2016) / Chapter Skim
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Appendix F: Large Genetic Cohort Studies: A Background
Appendix F: Large Genetic Cohort Studies: A Background
Pages 107-116
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From page 107... ...
led to the discovery of the association between high cholesterol levels and heart disease,3 while the Framingham Heart Study made clear the heart health risks of tobacco smoking.4 Recently, technological advancements have opened the door for the incorporation of genetic data into these types of studies, allowing for the discovery of specific pathogenic and protective genotypes through genome-wide association studies (GWASs)
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From page 108... ...
Alternatively, less centralized consortium models can compile data from similar studies, such as the National Cancer Institute's Cohort Consortium, which unites more than 40 cohorts consisting of more than 4 million people,7 and the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) , which performs meta-analyses and GWASs for 10 separate cohorts.8 The Precision Medicine Initiative (PMI)
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From page 109... ...
. The public's clear interest in receiving individual data and health information could be seen as challenging by some researchers, as the process of returning results is costly and time consuming and can be bound by institutional review board restrictions.
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The Kaiser Research Program on Genes, Environment, and Health and the Vanderbilt University BioVU program use models of recruitment for cohort studies that are built into their existing electronic health record and patient registries, allowing for a simpler linkage of information and follow up. However, differences in medical terminology can cause confusion when medical histories are being assessed, and many institutions do not currently possess the technological infrastructure to support interoperability (Manolio et al., 2012)
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From page 111... ...
Users also determine their own privacy settings by either keeping their data anonymous or allowing it be linked back to them for use in clinical care. Models similar to PEER could be useful in streamlining the consent process while empowering participants to take control of their health data.
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. Within the current health care reimbursement restructuring, physicians also lack the time to devote to studies (Robitaille et al., 2014)
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, the belief that the participant is doing something beneficial for his or her future generations may be all the incentive that is needed. For consortium models, it may be important for researchers to acknowledge the importance of local community engagement, since many ongoing cohort studies are invested in their own customized methods that have proven locally successful.
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2011. A systematic review of the effect of retention methods in population-based cohort studies.
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From page 115... ...
. PMI (Precision Medicine Initiative)
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