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Chapter 1 - Human genome epidemiology: the road map revisited

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Human Genome Epidemiology (2nd ed.): Building the evidence for using genetic information to improve health and prevent disease

“The findings and conclusions in this book are those of the author(s) and do not
necessarily represent the views of the funding agency.”
These chapters were published with modifications by Oxford University Press (2010)

Muin J. Khoury, Sara R. Bedrosian, Marta Gwinn, Julian Little, Julian P. T. Higgins, and John P. A. Ioannidis


Table 1-1
Examples of emerging applications of human genome discoveries for clinical practice and disease prevention
Type of Application Examples of Proposed Applications
Therapeutic agents Herceptin in treatment of breast cancer
Diagnostic tests BRCA analysis in hereditary breast and ovarian cancer
Pharmacogenomic tests Genetic testing for warfarin treatment
Prognostic tests Tumor gene expression profiles in various cancers
Screening tests Biomarkers for early detection of ovarian cancer
Risk assessment tests Genome profiles in breast and prostate cancer

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Table 1-2
Human genome epidemiology and the phases of genomics translation: examples and application
Phase Notation Types of Research Examples
T1 Discovery to candidate health application. Phases 1 and 2 clinical trials; observational studies. What is the magnitude of the association between genetic variants and disease risks? Is there gene-environment interaction?
T2 Health application to evidence-based practice guidelines. Phase 3 clinical trials; observational studies; evidence synthesis and guidelines development. What are the positive and negative predictive values of genetic factors in risk assessment?
T3 Practice guidelines to health practice. Dissemination research; implementation research; diffusion research; Phase 4 clinical trials. What proportion of individuals who meet guidelines criteria receive recommended care and what are the barriers to implementing practice guidelines?
T4 Practice to population health impact. Outcomes research (includes many disciplines); population monitoring of morbidity, mortality, benefits and risks. Does implementation of practice guidelines reduce disease incidence/improve outcomes?

Source: Adapted from Reference 28.
See Reference 28 for definition of terms.