DNA sequencing (on microarrays) is competitive with contemporary biomarker-based PCR assays, on cost per assay target, sensitivity, specificity, assay protocol complexity. The big differentiator, other performance aspects being comparable, is sequence-assured, decision-quality information per assay result. Low cost, rapid execution, high sensitivity and high specificity are desirable features of molecular diagnostic tests.

Expected Outcomes of the Presentation

• Understand what a resequencing microarray is
• Understand how resequencing microarray information can be used in clinical practice to provide far more robust information than is available with current modalities.

Short description: The benefits of the human genome project have yet to be realized by the typical medical professional. The first real molecular techniques involve polymerase chain reaction tests which are now in common use.  However, this 25 year old modality provides a paucity of information because it provides no sequence information.  Current uses of microarrays include single nucleotide testing  (SNP arrays), which are variants of PCR tests, used typically for genome wide association studies.  These biomarker based tests have led to several products marketed by various companies directly to the consumer. These arrays, along with single and multiple (multiplexed) PCR tests are fundamentally different from resequencing arrays, which are true sequencing tools.  It is the resequencing arrays which will deliver exceptionally rich information to the medical community at a very reasonable cost.

See-K Schafer’s  Presentation-Bringing DNA Sequencing to Routine Di agnostics-pdf