Many of these new technologies could help pathologists develop new diagnostic tests and offer medical laboratories opportunities to expand their services
This is a competition and each year The Scientist has a panel of five experts in life sciences review the entries. Among this year’s Top Ten Innovations are promising diagnostic tools and new technologies with the potential to disrupt the current state of healthcare. In the near future, most of these technologies will be used by researchers to better understand the underlying, genetic cause of diseases and advance new treatments. However, some of these innovative technologies have already been adopted for clinical use. Others are probably several years away from becoming the basis for new medical laboratory tests.
Here is a short overview of The Scientist magazine’s list of “Top Ten Innovations for 2014.”
1. DRAGEN Bio-IT Processor
At the top of the list, is the DRAGEN Bio-IT Processor. La Jolla, California-based Edioco Genome has not only reduced the size of a genomic processor to a single chip, but it speeds analysis of specimens from 24 hours to just 18 minutes, according to the company’s President/CEO Pieter van Rooyen.
Competition Judge Eric Schadt, Ph.D., Director of the Icahn Institute for Genomics and Multiscale Biology and Professor at Icahn School of Medicine at New York’s Mount Sinai Hospital, noted that the DRAGEN is among the first hardware platforms to make it possible to sequence an entire genome in 20 minutes on a single processor.
The MiSeqDX was selected because it is simple and easy to use, and now with FDA clearance, it’s positioned it to make great advancements in diagnostics and health care, noted competition Judge Tara Rock, Manager of the New York University Center for Genomics and Systems Biology.
3. HiSeq X Ten
Illumina claims that its HiSeq X Ten is the first next-generation sequencer to deliver the $1,000 genome. Schadt called this sequencing platform a milestone, pointing out that it’s one of the more dramatic achievements ever in the life and biomedical sciences. (See Dark Daily, “Illumina Asserts Its Claim of a $1,000 Whole Human Genome, But Is Gene Sequencing Ready for Use by Clinical Pathology Laboratories?”, Feb. 21, 2013.)
4. IrysChip V.32
San Diego, California-based BioNano Genomics’ IrysChip V2 is a high-throughput system that analyzes the architecture of genome structures and has applications for mapping, assembly, and evolutionary analyses. It incorporates fluorescently labeled nucleotides at specific sites throughout the genome, providing high-resolution, single-molecule images of the human genome for about $900 each.
Competition Judge Miriam Bayes, Ph.D., an Asset Owner of life sciences products at Thomson Reuters Global Resources noted, “This tool permits a whole-genome map preserving all regions and structural variations, fundamental to understand human diversity and disease.”
5. RainDrop Digital PCR System
The RainDrop Digital PCR System is manufactured by Raindance Technologies. The system uses a droplet digital PCR (polymerase chain reaction) and offers the sensitivity and specificity to pick up—and quantify—rare sequences to estimate relative gene expression in single cells.
Competition Judge Kim Kamdar, Ph.D., Managing Partner at Domain Associates, a health care–focused venture fund, observed that “this tool provides precise quantification of nucleic acids using standard, probe-based qPCR reagents.”
Researchers at Mount Sinai Hospital in New York City, for example, are using this system to study how recurring gynecologic cancers linger in some women, according to John Martignetti, M.D., an Associate Professor at Mount Sinai’s Icahn School of Medicine.
6. TCS SP8 STED 3X Microscope
Leica Microsystems’ TCS SP8 STED 3X super-resolution microscope enables researchers to image the molecular function of cells in 3D, at several frames per second.
The STED (STimulated Emission Depletion) principle was devised by 2014 Nobel Laureate Stefan Hell of the Max Planck Institute for Biophysical Chemistry in Göttingen, Germany, to view subcellular structures and dynamics at nanoscale.
The video on the right compares the Confocal (red) and 3D STED data sets (green) of a Marine Dinoflagelatte Amphidinium specimen using TCS SP8 STED 3X Microscope application. (Copyright Elisa Berdalet, CSIC Institute of Marine Sciences/Timo Zimmermann, Center for Genomic Regulation, Barcelona, Spain.)
Christian Eggeling, Ph.D., a Molecular Immunologist and Professor at University of Oxford, uses the STED 3X to explore changes in the organization of immune receptors on the surface of mammalian cells, and to generate 3D images of structures and molecules within cells.
Bayes noted that this technology allows 3D visualization in nanoscopic detail of subcellular structures, cell compartments, interactions of proteins, and interrelations of various structures—even in living specimens.
7. exVive3D Liver Model
Organovo’s exVive3D Liver, is an in vitro organ model that mimics the macro and micro 3D structure of the human liver. It includes a suite of the organ’s cell types, such as parenchymal hepatocytes, fibroblasts, endothelial cells, and hepatic stellate cells.
If Organovo’s living 3D human-tissue-liver model can provide a more predictive assessment of liver-specific toxicology and metabolic function than traditional animal systems, this will be a huge breakthrough in the drug-development world, commented Kamdar.
Ed LeCluyse, Ph.D., a toxicologist at the Hamner Institutes for Health Sciences in North Carolina who served as a consultant to Organovo, suggested that the product could change the way drugs are developed and environmental toxins are tested.
8. HAP1 Knock-Out Cell Lines
HAP1 Knock-Out Cell Lines, a new human cell line service launched by Vienna, Austria–based Haplogen Genomics, uses CRISPR-Cas9 technology to knock out any gene a customer requires. Haplogen now has more than 800 CRISPR-modified knockout HAP1 lines, which can be available within a week for $990 per cell line. Haplogen’s cell-line library is growing by about 100 genes per month.
Kamdar pointed out that HAP1 is a systematic approach to knock out all human genes that will ultimately allow for annotation of all human gene functions.
9. PreciseType Human Erythrocyte Antigen
Immucor’s PreciseType Human Erythrocyte Antigen (HEA) Test is the first in vitro diagnostic (IVD) to gain FDA approval. It quickly provides more detailed results than traditional serological tests, screening for genes that govern the expression of 35 antigens to identify rare markers. This ability helps clinicians reduce the risk of alloimmunization or other potentially harmful transfusion-related reactions in patients.
Ricardo Sumugod and research colleagues at Northwestern Memorial Hospital in Chicago used the PreciseType assay, paired with targeted sequencing, to discover a new blood type.
Bayes pointed out that this HEA test “brings accuracy and precision to molecular donor/patient matching that was not formerly possible with serology testing.”
Sciencescape is a new online service that helps solve scientists’ age-old problem of information overload. Working in partnership with a Web developer, Sam Molyneux, Ph.D., developed this “Twitter-like” service, which allows researchers to browse their personalized news feeds of newly published articles and organize them into categories. This service is free to academics and currently has 170,000 users.
“It basically replaced all of my previous literature-associated methods, which [were] sort of cobbled together between PubMed alerts and RSS feeds and things like that,” said Jonathan Coloff, Ph.D., a researcher at Harvard Medical School.
—by Patricia Kirk
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