Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Ensuring That Genetic Testing From Different Laboratories Yields the Same Results

10.07.2006
For individuals who develop colorectal cancers at a young age or have a family history of such cancers, microsatellite instability testing (MSI) has become an almost standard component of clinical evaluation. This DNA-based test can uncover hereditary nonpolyposis colon cancer syndrome (HNPCC), also called Lynch’s syndrome. However, despite the increased use of this test, there have been no reports of how well the results from any given laboratory agree with any other laboratory. In an article in the current issue of Cancer Biomarkers, researchers conducted testing across 6 laboratories to evaluate variability in reported results.

Because the underlying technology, PCR amplification, is now routine in all molecular genetics laboratories, there has been an implicit assumption that MSI testing would be reproducible and reliable. The initial results uncovered significant discordance among laboratories and led the researchers to expand their study in an attempt to learn the causes of the disagreements.

The six laboratories, located in the United States, Canada, and Australia, were members of the Cooperative Family Registry for Colon Cancer Studies (also called the Colon CFR). Using tumor samples collected since 1998 through the CFR, MSI testing was done at the six laboratories. Three of the laboratories had more than 8 years each of prior experience in MSI testing, while the other three set up MSI assays specifically for the Colon CFR. When the result showed wide disagreement with no systematic trends, one of the most experienced laboratories was designated the “gold standard” reference facility. With further testing of samples among the most experienced laboratories, the credentials of the reference laboratory were validated. A review of the results from all of the facilities resulted in five key rules that laboratories should observe when conducting MSI testing. Using these lessons learned, a final set of testing showed much improved agreement across all six laboratories.

Writing in the article, Noralane M. Lindor states, “This experience flushed out some important principles in MSI testing…and demonstrated that a very high degree of concordance for MSI testing is feasible….We strongly urge all clinical and research laboratories conducting MSI to participate in a sample exchange validation with an experienced group or consortium and that clinical laboratory certifying bodies develop plans to evaluate quality of MSI testing results being returned to clinicians and patients.”

The article is “Ascending the Learning Curve – MSI Testing Experience of a Six-Laboratory Consortium” by Noralane M. Lindor, Regenia Smalley, Melissa Barker, Jeannette Bigler, Lisa M. Krumroy, Annette Lum-Jones, Sarah J. Plummer, Teresa Selander, Sushma Thomas, Michelle Youash, Daniela Seminara, Graham Casey , Bharati Bapat, and Stephen N. Thibodeau. It appears in a special issue of Cancer Biomarkers, Volume 2, Issues 1-2 (July 2006), Lynch Syndrome (HNPCC) and Microsatellite Instability 2, published by IOS Press.

Lynch Syndrome (HNPCC) and Microsatellite Instability 2
Cancer Biomarkers, Volume 2, Issues 1-2 (July 2006)
Guest Editor: Asad Umar
Table of Contents
Asad Umar: Lynch Syndrome (HNPCC) and Microsatellite Instability Analysis Guidelines

Noralane M. Lindor et al.: Ascending the Learning Curve – MSI testing experience of a Six-Laboratory Consortium

Emanuela Lucci-Cordisco, Luigi Boccuto, Giovanni Neri, Maurizio Genuardi: The Use of Microsatellite Instability, Immunohistochemistry and Other Variables in Determining the Clinical Significance of MLH1 and MSH2 Unclassified Variants in Lynch Syndrome

Darryl Shibata: When Does MMR Loss Occur During HNPCC Progression?

Ivana Fridrichova: New Aspects in Molecular Diagnosis of Lynch Syndrome (HNPCC)

Won-Seok Jo and John M. Carethers: Chemotherapeutic Implications in Microsatellite Unstable Colorectal Cancer

John I. Risinger, et al.: Gene Expression Analysis of Tumor Infiltrating Lymphocyte Markers in Endometrial Cancers Indicates No Significant Increases in Those Cases with Microsatellite Instability

Stefan M. Woerner, et al.: Microsatellite Instability in the Development of DNA Mismatch Repair Deficient Tumors

Astrid Engelen | alfa
Further information:
http://www.iospress.nl

More articles from Health and Medicine:

nachricht New malaria analysis method reveals disease severity in minutes
14.08.2017 | University of British Columbia

nachricht New type of blood cells work as indicators of autoimmunity
14.08.2017 | Instituto de Medicina Molecular

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Fizzy soda water could be key to clean manufacture of flat wonder material: Graphene

Whether you call it effervescent, fizzy, or sparkling, carbonated water is making a comeback as a beverage. Aside from quenching thirst, researchers at the University of Illinois at Urbana-Champaign have discovered a new use for these "bubbly" concoctions that will have major impact on the manufacturer of the world's thinnest, flattest, and one most useful materials -- graphene.

As graphene's popularity grows as an advanced "wonder" material, the speed and quality at which it can be manufactured will be paramount. With that in mind,...

Im Focus: Exotic quantum states made from light: Physicists create optical “wells” for a super-photon

Physicists at the University of Bonn have managed to create optical hollows and more complex patterns into which the light of a Bose-Einstein condensate flows. The creation of such highly low-loss structures for light is a prerequisite for complex light circuits, such as for quantum information processing for a new generation of computers. The researchers are now presenting their results in the journal Nature Photonics.

Light particles (photons) occur as tiny, indivisible portions. Many thousands of these light portions can be merged to form a single super-photon if they are...

Im Focus: Circular RNA linked to brain function

For the first time, scientists have shown that circular RNA is linked to brain function. When a RNA molecule called Cdr1as was deleted from the genome of mice, the animals had problems filtering out unnecessary information – like patients suffering from neuropsychiatric disorders.

While hundreds of circular RNAs (circRNAs) are abundant in mammalian brains, one big question has remained unanswered: What are they actually good for? In the...

Im Focus: RAVAN CubeSat measures Earth's outgoing energy

An experimental small satellite has successfully collected and delivered data on a key measurement for predicting changes in Earth's climate.

The Radiometer Assessment using Vertically Aligned Nanotubes (RAVAN) CubeSat was launched into low-Earth orbit on Nov. 11, 2016, in order to test new...

Im Focus: Scientists shine new light on the “other high temperature superconductor”

A study led by scientists of the Max Planck Institute for the Structure and Dynamics of Matter (MPSD) at the Center for Free-Electron Laser Science in Hamburg presents evidence of the coexistence of superconductivity and “charge-density-waves” in compounds of the poorly-studied family of bismuthates. This observation opens up new perspectives for a deeper understanding of the phenomenon of high-temperature superconductivity, a topic which is at the core of condensed matter research since more than 30 years. The paper by Nicoletti et al has been published in the PNAS.

Since the beginning of the 20th century, superconductivity had been observed in some metals at temperatures only a few degrees above the absolute zero (minus...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Call for Papers – ICNFT 2018, 5th International Conference on New Forming Technology

16.08.2017 | Event News

Sustainability is the business model of tomorrow

04.08.2017 | Event News

Clash of Realities 2017: Registration now open. International Conference at TH Köln

26.07.2017 | Event News

 
Latest News

Gold shines through properties of nano biosensors

17.08.2017 | Physics and Astronomy

Greenland ice flow likely to speed up: New data assert glaciers move over sediment, which gets more slippery as it gets wetter

17.08.2017 | Earth Sciences

Mars 2020 mission to use smart methods to seek signs of past life

17.08.2017 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>