| Like many other diagnostic regimes that were previously restricted to large specialty laboratories, genetic analysis is entering the clinical mainstream. Smaller, simpler analyzer systems are now suitable and affordable for hospital or large physicians’ group labs, while some genetic test kits are becoming available for primary point of care locations such as clinics and physician offices.
The ABI PRISM® 310 Genetic Analyzer from Applied Biosystems, Foster City, Calif., is an automated single-capillary genetic analyzer designed for a wide range of sequencing and fragment analysis applications and suitable for research, clinical, or forensic labs.
This system does not require gel-based samples, sets up quickly and its operation is largely automated. The system is also able to detect five dyes simultaneously to increase test speed and efficiency. Applied Biosystems says that the 310 Genetic Analyzer provides an ideal alternative to gel-based DNA analysis and that it enables users to automate applications from de novo sequencing to SNP validation and linkage mapping.
Data collection software is supplied with the system. Optional software packages support sequencing analysis and gene mapping. The optional MicroSeq® software package supports comparison of the sequence of unidentified bacteria or fungi with a validated library for positive identification and taxonomic classification.
As genetic screening technology grows more compact and simple to implement, test kits for laboratory and point of care diagnosis for a wide range of applications are entering the international marketplace. The uses of these kits range from cancer detection and staging to human growth factor analysis to diabetes typing. Some of these kits have been approved for use in the U.S. and inevitably many more will become available in the future.
Cepheid, Sunnyvale, Calif., is introducing the GeneXpert® System to the clinical market. With its “sample in, answer out” ease-of-use, this analyzer will move genetic assessment into the realm of routine clinical care for the first time. By automating the entire testing process in a self-contained closed cartridge, the GeneXpert System will expand genetic testing beyond the confines of hospital and laboratory settings and into physician's offices, clinics and other point-of-care settings. The GeneXpert system’s ability to identify, rapidly and accurately, a wide range of infectious agents and diseases through their genetic fingerprint will give medical professionals powerful new ways to enhance patient management and care.
Applications of genetic assessment have moved from simple diagnosis, to more complex determinations such as identifying clinically relevent resistance mutations, as well as genotype and subtype interpretation. Such is the case with the integrated TRUGENE® DNA Sequencing System by Siemens Medical Solutions Diagnostics, Tarrytown, NY. The TRUGENE system along with the TRUGENE® HIV-1 Software uses a regularly updated algorithm validated by an independent panel of HIV experts to determine clinically relevent mutations that confer resistance to antiretroviral drugs. The TRUGENE HIV-1 Software ultimately generates a comprehensive TRUGENE® HIV-1 Resistance Report, which both summarizes the possible resistances and gives the mutation details. Additionally, this system offers genotyping of HCV subtypes and genotyping and identification of resistance mutations in HBV.
Definition of chromosome anomalies in prenatal, postnatal and preimplantation genetics is sometimes critical for predicting pregnancy outcome and future quality of life. Vysis, a division of Abbott Laboratories, Des Plaines, IL, has gained FDA approval for its Aneuvysion assay, the only FDA cleared product to test for prenatal aneuploidy. Vysis offers an expansive line of DNA FISH (fluorescence in situ hybridization) probes for evaluation of chromosome anomalies in preimplantation, prenatal and postnatal genetic testing and research.
The availability of genetic analysis tools for mainstream clinical use offers exciting new prospects for timely, accurate diagnostic, screening and evaluative tasks. Paradoxically, in this realm of genetic analysis, as in so many other aspects of modern medicine, the more sophisticated biomedical technology becomes, the greater its accessibility, breadth of application and affordability.
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