Molecular Diagnostics
Creation of Genetic Testing Registry is underway
The National Institutes of Health (NIH) announced in March that it is creating a public database of genetic tests. Researchers, consumers, healthcare providers, and others will have access to the Genetic Testing Registry (GTR) to search for information submitted voluntarily by genetic test providers.   NIH director Francis Collins’s chief of staff, Kathy Hudson, said the agency will soon publish a notice in the Federal Register posing a series of questions about the project to...
Creation of Genetic Testing Registry Is Underway
The National Institutes of Health (NIH) announced in March that it is creating a public database of genetic tests. Researchers, consumers, healthcare providers, and others will have access to the Genetic Testing Registry (GTR) to search for information submitted voluntarily by genetic test providers. NIH director Francis Collins’s chief of staff, Kathy Hudson, said the agency will soon publish a notice in the Federal Register posing a series of questions about the project to...
SACGHS draft report finds gene patents unhelpful
The Secretary’s Advisory Committee on Genetics, Health, and Society (SACGHS) in February released a revised draft report on gene patents and licensing practices and their impact on patient access to genetic tests. The report will be sent to Secretary of Health and Human Services Kathleen Sebelius upon completion. The draft document seeks to determine the effects of patents and licensing on the development of genetic tests, as well as analyze other possible patenting and licensing benefits...
Microfluidics for IVD analysis: triumphs and hurdles of centrifugal platforms, Part 2: Centrifugal microfluidics
Microfluidics research has become extensive, particularly regarding the development of sample-to-answer platforms focusing on protein and nucleic acid (NA) IVDs. The holy grail in this field is the development of a single system that can accept a wide range of biological samples (e.g., blood or saliva), perform the required sample preparation and analysis, and quickly produce test results with little or no user input required (besides the initial sample introduction). But few examples of such...
Trends and advances in molecular diagnostics
                Alice Jacobs, MD, is the founder, chair, and CEO of IntelligentMDx, a molecular diagnostics company based in Cambridge, MA that develops and manufactures tests for rapid, precise, clinically impactful detection of infectious diseases. Jacobs founded IntelligentMDx after losing a patient during her medical training to a healthcare-associated infection and made it her mission to integrate discoveries made in life sciences to improve...
Using DNA in multiplexed detection schemes
            Figure 1. The unique 3-D structures of the Thermal Gradient device allow PCR with extremely fast temperature transitions in low-cost disposable devices. In many respects, the diagnosis of infectious diseases implements concepts that have remained largely unchanged during the past half-century or more. Ever since the Danish physician Hans Joachim Gram observed in the early 1860s that certain bacteria retain a purplish color after being...
Microfluidics for IVD analysis: Triumphs and hurdles of centrifugal platforms, Part 1: Molecular fundamentals
During the past ten years, research on developing nucleic acid- (NA) and protein-based IVD tests using microfluidics has skyrocketed and has been primarily driven by the rapid progress in molecular biology and molecular diagnostics.1 The complex challenges involved in producing microfluidic systems for molecular diagnostics are usually addressed by developing separately the various pieces of equipment that handle specific individual steps within the total sample-to-answer...
Continually moving forward
          Molecular diagnostics is becoming one of the dominant platforms of clinical laboratory medicine, representing one of the fastest growing segments in the IVD industry. It has emerged fully from research into clinical practice. According to Kalorama Information (New York), the molecular diagnostics market totaled $3.21 billion in revenues in 2007. The market is expected to reach $5.42 billion by 2012 with an estimated annual growth rate of 11%.  ...
Introdution to tools for molecular diagnostics
      The Tigris System by Gen-Probe Inc. (San Diego). The tools available for molecular diagnostic assays have expanded considerably since the first non-amplified nucleic acid test (NAT) to confirm Legionnaires' disease received FDA approval in 1985. It took another eight years before the first amplified test was approved, allowing detection of a target nucleic acid directly from a clinical sample. Amplification offered the benefit of increased sensitivity while...
Genetic testing: an update
          Genetic testing for healthcare purposes is a growing market with the potential to bring the concept of personalized medicine to fruition. As more genetic tests become available, many groups are calling for enhanced federal oversight of genetic testing, greater transparency in the industry, and more publicly accessible information about tests that are currently on the market.   While genetic tests, like other diagnostic laboratory tests, are subject to...