Genomic Precision

 A SeraCare blog focused on precision medicine and advanced clinical diagnostics

AMP Reference Material Forum: Themes and Highlights

Posted by Catherine Huang on Dec 22, 2017 12:30:00 PM

On November 14, 2017, AMP hosted a forum to discuss genetic testing reference material availability and needs. The forum attracted attendees including EQA providers, developers in industry and government, as well as scientists from clinical laboratories. Topics for discussion included reference material use and needs for assay validation, quality control, and proficiency testing. Throughout the talks, a few themes emerged and were discussed by multiple speakers.

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Topics: AMP2017, reference materials, Clinical Genetic Testing

You can’t validate everything… can you?

Posted by Sam Blier on Sep 21, 2017 10:00:00 AM

“Is there a limit on the type of mutations we would need to validate given that the cost per validation is high?”

This question was recently posted to a panel of clinical genomics experts that we convened for a webinar hosted by GenomeWeb (you can download a full report on the entire series here). Panelists Girish Putcha, MD, PhD, Director of Laboratory Science, Palmetto GBA; Roger Klein, MD, Principal, JD Consulting; and Elaine Lyon, PhD, Medical Director, Molecular Genetics and Genomics, ARUP Laboratories, weighed in with thoughtful responses to a query that’s on the minds of many clinical laboratorians.

 

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Topics: performance-based metrics, methods-based validation, Clinical Genetic Testing, synthethic controls, variants

What specifically contributes to high levels of NGS accuracy?

Insight from the 2017 Precision Medicine World Conference

Posted by Dale Yuzuki on Jul 7, 2017 10:00:00 AM

Accuracy of NGS results is extremely critical for clinical genomic laboratories, when developing, validating or running an assay.  At the 2017 Precision Medicine World Conference a panel discussion entitled ‘Achieving Accurate NGS Test Results’ featured Dr. Greg Tsongalis, Director of Clinical Genomics and Advanced Technology at Dartmouth Hitchcock Medical Center;  Dr. Dara Aisner, Associate Professor of Pathology at University of Colorado Anschutz Medical Campus School of Medicine; and Dr. Russell Garlick,

Chief Scientific Officer of SeraCare Life Sciences.

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Topics: pmwc, Clinical Genetic Testing, Precision Medicine World Conference, data analysis, cross-platform validation

Multiplexed Reference Materials as Controls for Cardiomyopathy Diagnostic Next-Generation Sequencing

A Journal for Molecular Diagnostics article describing ‘an attractive addition to the repertoire of materials for the development, validation, and quality monitoring of clinical NGS assays’

Posted by Dale Yuzuki on Dec 13, 2016 11:01:00 AM

Hypertrophic Cardiomyopathy (HCM) is a disease where the heart muscle is enlarged and a significant cause of sudden cardiac death, and is frequently asymptomatic.  HCM is commonly caused by a mutation in one of nine heart muscle genes that comprise the sarcomere, and occurs at a prevalence of about 1 in 500 in the general population. HCM is the leading cause of cardiac death in young athletes in the United States.

Clinical genetic testing for mutations in the HCM-related genes has been ongoing for over a decade;  the GeneTest.org database reveals 105 laboratories offering some version of genetic testing.  While knowledge of prevalent pathogenic variants are available, the majority of variants remain private (that is, unpublished and not widely available). The move to NGS-based gene panels for HCM testing has lead to new challenges for test development, validation and routine quality control due to the inherent scarcity of samples, the cost of including numerous single mutations from these individual samples, and the lack of these materials for laboratories without a long history of testing.

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Topics: multiplexed referenence materials, Controls, Cardiomyopathy, next gen sequencing, NGS assays, allele frequencies, multiplexing, DNA, Clinical Genetic Testing

 
 

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