The case for a global human genome epidemiology initiative

Khoury, Muin J.

doi:10.1038/ng1004-1027

Cited by 66 publications

(29 citation statements)

References 5 publications

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“…One estimate is that most published research findings are statistically false (Ioannidis, 2005) COMMUNICA COMMUNICA COMMUNICA COMMUNICA COMMUNICATION, DA TION, DA TION, DA TION, DA TION, DAT T T T TABASES, RESOUR ABASES, RESOUR ABASES, RESOUR ABASES, RESOUR ABASES, RESOURCES, AND CES, AND CES, AND CES, AND CES, AND TOOLS TOOLS TOOLS TOOLS TOOLS sample sizes that lack appropriate statistical power, control groups that are not appropriately matched to cases, population stratification that occurs because of genetic admixtures among study participants, and over-interpretation of data (among others, see: [Cardon and Bell, 2001;Lander and Kruglyak, 1995;Risch, 1997;Tabor et al, 2002]). HuGENet TM (http://www.cdc.gov/ genomics/hugenet/default.htm), a global collaboration of individuals and organizations committed to the analyses of human genome variation on population health and determination of how human genetic information can be used to improve health and prevent disease, was formed in 1998 in response to these concerns and to provide accurate information to scientists and the public (Khoury, 2004). P 3 G, the Public Population Project in Genomics (http://www.p3gconsortium.org/), is another international network promoting transparency and collaboration for human epidemiology studies.…”

Section: Introductionmentioning

confidence: 99%

Harnessing Nutrigenomics: Development of web-based communication, databases, resources, and tools

Kaput

Astley

Renkema³

et al. 2006

Genes Nutr

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Section: Introductionmentioning

confidence: 99%

Harnessing Nutrigenomics: Development of web-based communication, databases, resources, and tools

Kaput

Astley

Renkema³

et al. 2006

Genes Nutr

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“…Lessons may be learned from molecular medicine-the research community understood the futility of using small individual studies to dissect the genetic components of complex diseases, and has embraced largescale collaborative meta-analyses of individual participant data. 71,72 It is time that important questions in clinical medicine followed a similar approach.…”

Section: Concluding Remarks and Roadmap For The Futurementioning

confidence: 99%

Addressing Multimorbidity in Evidence Integration and Synthesis

2014

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To minimize bias, clinical practice guidelines (CPG) for managing patients with multiple conditions should be informed by well-planned syntheses of the totality of the relevant evidence by means of systematic reviews and meta-analyses. However, deficiencies along the entire evidentiary pathway hinder the development of evidence-based CPGs. Published reports of trials and observational studies often do not provide usable data on treatment effect heterogeneity, perhaps because their design, analysis and presentation is seldom geared towards informing on how multimorbidity modifies the effect of treatments. Systematic reviews and meta-analyses inherit all the limitations of their building blocks and introduce additional of their own, including selection biases at the level of the included studies, ecological biases, and analytical challenges. To generate recommendations to help negotiate some of the challenges in synthesizing the primary literature, so that the results of the evidence synthesis is applicable to the care of those with multiple conditions. Informal group process. We have built upon established general guidance, and provide additional recommendations specific to systematic reviews that could improve the CPGs for multimorbid patients. We suggest that following the additional recommendations is good practice, but acknowledge that not all proposed recommendations are of equal importance, validity and feasibility, and that further work is needed to test and refine the recommendations. INTRODUCTIONMost current clinical practice guidelines (CPG) are typically developed for managing individuals with a single disease, and also apply to patients with multiple conditions, provided that each can be managed separately from the others.1,2 Some patients, however, have conditions that must be considered jointly, perhaps because the management of one affects the management or the course of other. Uncritical adherence to guideline-recommended management of their isolated conditions can be impractical or even harmful for such patients. Tailored guidance is needed at least for specific combinations of conditions. Very few examples of CPGs providing such guidance exist, 1,2 perhaps because developing such guidance is hindered by deficiencies along the entire evidentiary pathway. Pivotal trials or observational studies often exclude individuals with multimorbidity. 4,5 Even when these individuals are included, the treatment effect is typically averaged over all participants, without report of whether and how it is modified in those with important multimorbid conditions. 6 Thus, systematic reviews that inform CPG recommendations often do not or cannot describe the pertinent evidence base. 7This manuscript describes the outcomes of a working session conducted with the goal of generating recommendations to help overcome some of the challenges in synthesizing the primary literature so that the results of the evidence synthesis are applicable to the care of those with multiple conditions that must be considered jointly, or in...

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“…Integrating data across studies will require developing approaches for facilitating pooled analyses and synthesis. We are seeing the beginning of such a global movement across international boundaries with the establishment of P3Gy 8 The ability to share or pool data when of scientific interest necessitates both thinking ahead with others who share this vision and building the quality tools to be able to do so. P 3 G is not a metadatabase or sample repository.…”

Section: Isparities In Health Statusmentioning

confidence: 99%