Journal
STATISTICS IN MEDICINE
Volume 31, Issue 22, Pages 2400-2413Publisher
WILEY
DOI: 10.1002/sim.4485
Keywords
high throughput molecular biomarker analysis; biospecimens; population-based studies; genetic epidemiology; sample pooling
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Funding
- Long-Range Research Initiative of the American Chemistry Council
- Eunice Kennedy Shriver National Institute of Child Health and Human Development
- National Institutes of Health
- Kleberg Center for Molecular Markers Technology Development Award
- Cohen-Reinauch BATTLE-2 Fund
- Stading Family Fund
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The future of personalized medicine depends on the ability to efficiently and rapidly elucidate a reliable set of disease-specific molecular biomarkers. High-throughput molecular biomarker analysis methods have been developed to identify disease risk, diagnostic, prognostic, and therapeutic targets in human clinical samples. Currently, high throughput screening allows us to analyze thousands of markers from one sample or one marker from thousands of samples and will eventually allow us to analyze thousands of markers from thousands of samples. Unfortunately, the inherent nature of current high throughput methodologies, clinical specimens, and cost of analysis is often prohibitive for extensive high throughput biomarker analysis. This review summarizes the current state of high throughput biomarker screening of clinical specimens applicable to genetic epidemiology and longitudinal population-based studies with a focus on considerations related to biospecimens, laboratory techniques, and sample pooling. Copyright (c) 2012 John Wiley & Sons, Ltd.
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