Detection and Diagnostics, Technology and Market

The Weakest Link in Diagnostics May Be the Sample Itself

Mark D. Lim / IQT Quarterly Winter 2016

Anyone who has had blood drawn at a doctor’s office is familiar with much of the information that results from its analysis, such as glucose, cholesterol, lipids, and cell counts. In the past two decades, two trends have given rise to a revolution in the next generation of diagnostic technologies.

First, molecular biology is increasingly finding molecules in bodily fluids (such as blood and saliva) and tissues that provide information about a patient’s health state to guide the decisions made by a physician (“biomarkers”). Second, engineering advances have enabled these tests to be performed with equipment that is smaller, less expensive, and requires less sample for analysis. These trends are creating market opportunities that, for DNA sequencing technologies alone, are predicted to exceed $20 billion with opportunities beyond niche diagnostic markets. This is encouraging more entrepreneurs to join this rapidly developing market by applying advanced analytics and novel sensors to increase the speed, precision, and accuracy for interrogating human samples, while also reducing per-analysis costs.

The same advances in diagnostic technology are finding use outside of the clinical laboratory. Less expensive, more powerful diagnostics allow public health researchers to screen larger groups of people to determine if a population is at-risk of developing or harboring disease. Such broad applications of genomic- and proteomic-based diagnostics to public health are as vulnerable as any research to flaws that prevent their reproducibility, as has been reported recently. While there are many factors that may contribute to irreproducibility in the use of diagnostic technology, there are some sources of data variability and bias that can be mitigated when engineering the work ow from human sample to molecular answers on a population scale.

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