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 Researchers release the brakes on the immune system
18.10.2017 | Rheinische Friedrich-Wilhelms-Universität Bonn

nachricht Norovirus evades immune system by hiding out in rare gut cells
12.10.2017 | University of Pennsylvania School of Medicine

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: Neutron star merger directly observed for the first time

University of Maryland researchers contribute to historic detection of gravitational waves and light created by event

On August 17, 2017, at 12:41:04 UTC, scientists made the first direct observation of a merger between two neutron stars--the dense, collapsed cores that remain...

Im Focus: Breaking: the first light from two neutron stars merging

Seven new papers describe the first-ever detection of light from a gravitational wave source. The event, caused by two neutron stars colliding and merging together, was dubbed GW170817 because it sent ripples through space-time that reached Earth on 2017 August 17. Around the world, hundreds of excited astronomers mobilized quickly and were able to observe the event using numerous telescopes, providing a wealth of new data.

Previous detections of gravitational waves have all involved the merger of two black holes, a feat that won the 2017 Nobel Prize in Physics earlier this month....

Im Focus: Smart sensors for efficient processes

Material defects in end products can quickly result in failures in many areas of industry, and have a massive impact on the safe use of their products. This is why, in the field of quality assurance, intelligent, nondestructive sensor systems play a key role. They allow testing components and parts in a rapid and cost-efficient manner without destroying the actual product or changing its surface. Experts from the Fraunhofer IZFP in Saarbrücken will be presenting two exhibits at the Blechexpo in Stuttgart from 7–10 November 2017 that allow fast, reliable, and automated characterization of materials and detection of defects (Hall 5, Booth 5306).

When quality testing uses time-consuming destructive test methods, it can result in enormous costs due to damaging or destroying the products. And given that...

Im Focus: Cold molecules on collision course

Using a new cooling technique MPQ scientists succeed at observing collisions in a dense beam of cold and slow dipolar molecules.

How do chemical reactions proceed at extremely low temperatures? The answer requires the investigation of molecular samples that are cold, dense, and slow at...

Im Focus: Shrinking the proton again!

Scientists from the Max Planck Institute of Quantum Optics, using high precision laser spectroscopy of atomic hydrogen, confirm the surprisingly small value of the proton radius determined from muonic hydrogen.

It was one of the breakthroughs of the year 2010: Laser spectroscopy of muonic hydrogen resulted in a value for the proton charge radius that was significantly...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

ASEAN Member States discuss the future role of renewable energy

17.10.2017 | Event News

World Health Summit 2017: International experts set the course for the future of Global Health

10.10.2017 | Event News

Climate Engineering Conference 2017 Opens in Berlin

10.10.2017 | Event News

 
Latest News

Electrode materials from the microwave oven

19.10.2017 | Materials Sciences

New material for digital memories of the future

19.10.2017 | Materials Sciences

Physics boosts artificial intelligence methods

19.10.2017 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>