News, Analysis, Trends, Management Innovations for
Clinical Laboratories and Pathology Groups

Hosted by Robert Michel

News, Analysis, Trends, Management Innovations for
Clinical Laboratories and Pathology Groups

Hosted by Robert Michel
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NIST’s New Standard Genetic Reference Specimen Promises to Increase Accuracy of Clinical Pathology Laboratories Using Next-Generation Sequencing Technology

Sequencing this new DNA standard reference material enables medical laboratories to verify if their DNA test results are accurate

To reduce the variability in genetic test results that has been observed across different clinical laboratories and pathology groups, the National Institute for Standards and Technology (NIST) has introduced a new standard DNA reference. This is another step forward to improve transparency in the quality and accuracy of genetic test results produced by medical laboratories in the United States and abroad.

Even as scientists continue to identify genetic mutations that could cause various cancers and other diseases, such as Alzheimer’s and cystic fibrous, studies have demonstrated that DNA test results from the same specimen can vary depending on which medical laboratory performs the whole-genome sequencing analysis. This is partly due to variances in the technology, chemicals and processes used for the testing. Therefore, ensuring consistently reliable test results has been difficult, which could lead to inaccurate or missed diagnoses.

That is why a new standard DNA reference material developed by the National Institute for Standards and Technology has the potential to help DNA sequencing facilities to verify if their DNA test results are accurate. The new reference material, NIST RM 8398, was designed to improve the accuracy of diagnostic laboratories that analyze DNA using “next-generation sequencing” (NGS) technology. (more…)

New Semiconductor Technology Accelerates Whole Genome Sequencing at Reduced Cost

Clinical and anatomic pathology laboratories may soon find next-generation DNA sequencing reliable and affordable

Swift advances in whole human genome sequencing may bring clinical applications to pathology on a much faster timeline than expected.

One impressive example of the fast pace of technology improvements is the Ion Torrent, which is a semiconductor-based DNA sequencer now capable of sequencing 100 million base pairs. That is ten times the sequencer’s capacity when it was launched just last December!

It was August of last year when Life Technologies (NASDAQ: LIFE) in Carlsbad, California, paid $375 million to acquire Ion Torrent Systems, a start-up with operations in Guilford, Connecticut, and South San Francisco. If Ion Torrent achieves certain technical milestones through 2012, it will earn another $350 million.

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