In a previous post I spoke of the excessive use of acronyms to define the laboratory informatics space. It turns out we aren’t the only industry that has such a mega dose of acronyms!

MDx – An emerging marketing segment called Molecular Diagnostics (MDx) is rapidly advancing in the area of research and medicine, with new technologies and applications being continually added. The technologies that come under the umbrella of molecular diagnostics include polymerase chain reaction (PCR), transcription mediated amplification (TMA), hybridization (In-situ Hybridization & fluorescence in situ hybridization (FISH)), DNA Sequencing, next generation sequencing (NGS), and gene expression profiling using microarrays. These technologies are improving the discovery of therapeutic molecules for cancer, the screening, diagnosis and classification of cancer patients, and the optimization of drug therapy.

MDx involves instruments and reagents that leverage multiple technologies to identify genetic variations. Molecular diagnostics show potential in the areas of infectious disease molecular testing, oncology, blood screening, genetic testing, DNA fingerprinting (e.g. paternity testing, forensic testing), microbiology, tissue typing and food pathogen detection testing. Currently, the hottest areas for MDx are oncology, molecular tests for women’s health and organ transplant testing.

Like most emerging markets, the molecular diagnostics market is highly fragmented.  To date the most prominent players are Roche Diagnostics (Switzerland), Novartis (Switzerland),  Hologic/Gen-Probe (U.S.), Qiagen (The Netherlands), Abbott Diagnostics (U.S.), Becton Dickinson (U.S.) and Cepheid (U.S.), to name a few.

Now for some standards/certifications specific for this marketplace…

CLIA – In an effort to bring all 150,000 US clinical laboratories (including physician’s office labs) under uniform regulations based on the public concern about the quality of testing, Congress passed the Clinical Laboratory Improvement Amendments of 1988 (CLIA 88). Standards apply to laboratory personnel and procedures are based on test complexity and potential harm to the patient. The regulations establish application procedures and fees for CLIA registration, enforcement and surveillance methods, and sanctions applicable when laboratories fail to meet standards. CLIA regulations define three categories of testing complexity: waived, moderate and high. For tests of moderate or high complexity, the laboratory must participate in a continuing program of proficiency testing whereby an independent laboratory periodically submits specimens of known composition for testing.

CAP – The College of American Pathologists, is a medical society serving more than 18,000 physician members and the laboratory community throughout the world. It’s headquartered in Northfield, IL.

CAP is the world’s largest association composed exclusively of pathologists certified by the American Board of Pathology (widely considered the leader in laboratory quality assurance).  CAP does accreditation of laboratories under deemed authority by CMS (Medicare). It also offers an accreditation service to help laboratories earn accreditation under ISO 15189 Medical Laboratories. In November 2008, Piedmont Medical Laboratory of Winchester, VA became the first laboratory in the US to be officially accredited under ISO 15189.

Pathologists play an integral role in the primary health care team. They are physicians who obtain and interpret data as the result of examination of tissues, blood, and other body fluids for diagnosis and patient care. CAP members are involved in a broad range of disciplines including surgical pathology, cytopathology, dermatopathology, neuropathology, forensic pathology, blood banking/ transfusion medicine, clinical chemistry, microbiology, immunopathology, hematology, genetics and molecular pathology.

Where LABVANTAGE and LIMS/BB fits in…

LIMS and BB – It turns out LABVANTAGE is very well positioned to provide solutions in this emerging market based on the strength of our Life Science LIMS and Biobanking Module (BB) offering. By working with existing customers we were able to build an MDx solution that was successfully implemented in a CLIA certified environment.  Additionally, we have recently sold BB LIMS solutions — and even equipment and test kits — to several top-tier BB organizations.

The ultimate goal of all of this work is the Holy Grail of Personalized Medicine; a drug or treatment specifically built to your own unique genetic code!

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