Digital PCR’s ability to precisely quantitate, identify mutations and copy number variations, and to perform gene expression analysis is creating waves across the diagnostics landscape. It is well suited for single-cell analysis and shows promise to become a superior tool in the clinic due to its capacity to work with small amounts of sample. The Third Annual Digital PCR event will bring together industry visionaries and early adopters to discuss digital PCR’s capabilities, limitations, and future applications. Researchers will examine applications in cancer biomarker and rare mutation detection, non-invasive fetal DNA analysis, and infectious disease quantification, particularly in HIV. Novel digital PCR devices from startups and academic labs will be showcased. Other topics to be addressed include digital PCR integration with existing technologies, solutions for processing difficult samples as well as increasing sample throughput, and guidelines and best practices for digital detection.
The field of prenatal diagnostics is undergoing rapid and significant change, as a variety of molecular diagnostics are transforming the type and quality of data that can be provided to pregnant women and their physicians. Array-based cytogenetic analysis can provide more detailed and accurate assessment of many genetic conditions compared with traditional karyotyping, both of which rely on samples obtained using invasive procedures. Since obtaining samples invasively, even in the most proficient hands, does involve some risk to the fetus, there has been tremendous interest in non-invasive testing approaches. Next-gen sequencing of cell-free DNA found in maternal blood has been demonstrated to provide highly accurate assessment of fetal aneuploidies, with quite low false positives and false negatives, in most cases. Best practice guidelines have been modified quite quickly to recommend that such testing be offered to women who are at increased risk of aneuploidies, either because of past history, advanced maternal age or other reasons, and adoption and agreement by insurers to cover such testing has occurred at unprecedented speed. Such tests are not without controversy, however, because they only test for the most common chromosome duplications, and are unable thus far to provide analysis of smaller genetic insertions, deletions and rearrangements. One alternative approach has been research on obtaining circulating fetal cells from maternal blood, which would offer the advantages of being non-invasive, and isolated from confounding maternal DNA, but the challenges of reliably obtaining such rare cells has delayed the prospects for commercialization. This conference will provide an in-depth examination of key issues, technical and practical developments in these areas, and opportunities for discussing some of the issues that will have an impact on how this field continues to quickly evolve in the near future.