Genomic Precision

 A SeraCare blog focused on precision medicine and advanced clinical diagnostics

An Efficient and Ultrasensitive NGS Solution for Profiling ctDNA [Poster Talk Video]

Posted by Trevor Brown on Mar 5, 2018 8:28:14 AM

SeraCare Customer Poster Talk Video with Data Presented by Asuragen

Next-generation sequencing (NGS) of liquid biopsies offers a minimally invasive alternative to solid tissue biopsies and a more holistic profile of intra- and inter-tumoral heterogeneity for therapy selection and disease monitoring. 

Watch the video and download this free poster to learn:
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Topics: NGS assays, liquid biopsy, ctDNA, NGS reference materials, next gen sequencing

Dr. Andrea Ferreira-Gonzalez on the Seven Benefits of Clinical Genomics Universal Standardization

The Chair of Molecular Diagnostics, Department of Pathology at Virginia Commonwealth University shares her success story

Posted by Dale Yuzuki on Jun 22, 2017 3:32:52 PM

 As a 25-year veteran of clinical molecular diagnostics, Dr. Andrea Ferreira-Gonzalez has seen many changes in genetic technologies used in the testing laboratory. With the advent of personalized medicine and using multi-gene NGS panels as a laboratory-developed test, Dr. Ferreira-Gonzalez and other experts have agreed to lend their expertise to the design of SeraCare’s reference materials.

 

She and other groups have participated in an interlaboratory test of standardized reference materials for detecting cancer somatic mutations, with results that will be published in the coming months.

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Topics: NGS assays, next gen sequencing, Reference Material, laboratory training, clinical genomics

Real-World Needs for Genetic Testing Reference Materials

From troublesome mutations to FDA validation studies

Posted by Matt Ryder on Jun 1, 2017 9:09:00 AM

“Happy families are all alike; every unhappy family is unhappy in its own way.”

I have always thought the opening of Anna Karenina applies for many things beyond familial harmony (or lack thereof).  Certainly, in the world of molecular genetic diagnostics, conclusive results are usually obtained for most patients; however, there are times when a final result is more elusive than conclusive.  When this occurs, it may seem as though no two challenges are ever the same.

The following are real examples – presented in general terms for patient and institutional confidentiality – of difficult, unanticipated, and even bizarre cases I encountered during my time in clinical testing for predisposition to hereditary disease.  Each of these situations required extraordinary effort, dedicated time, and additional resources for resolution.  At the end of each day, satisfaction came from knowing that another problem solved was another patient helped in making life-altering medical management decisions.

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Topics: wildtype allele, next gen sequencing, homopolymers, limit of detection, sequencing, germline

Extracting Formalin-fixed, paraffin-embedded (FFPE) nucleic acids for NGS

Answering frequently asked questions (FAQs)

Posted by Yves Konigshofer on Mar 14, 2017 11:20:00 AM

In the course of patient care, formalin-fixation and paraffin-embedding (FFPE) of biopsy tissue samples are routinely performed, where these samples can be analyzed by histology and archived to link the sample with clinical long-term follow-up. With the development of advanced NGS-based oncology gene panels, it is becoming increasingly important to consider pre-analytic variables when extracting nucleic acids from FFPE-treated samples. This post covers frequently asked questions (FAQs) around the extraction of nucleic acids from FFPE samples for downstream NGS analysis.


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Topics: FFPE Tissue Kit, Deparaffinization Solution, Formalin-fixed, paraffin-embedded, biopsy tissues, nucleic acid, ethanol, molten paraffin, NGS, next gen sequencing

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

Clinical Laboratories: You Are Not Alone. (Part II)

"The most effective ways to use QC data to monitor the health of your NGS assay."

Posted by Matt Ryder on Dec 7, 2016 4:00:00 PM

Previously, we wrote about some of the Quality Control challenges that clinical laboratories performing Next Generation Sequencing (NGS) face towards ensuring their assays are safe and effective for guiding medical management decisions.  Reliable access to high quality reference materials is necessary to help overcome these challenges; however, it is not sufficient.  Insights that reference materials provide into the health of an NGS assay are only as good as laboratories’ ability to use their QC data effectively.

With limited time and resources to collect, organize, access, and analyze QC metrics, laboratories may frequently rely on reference materials as binary indicators of Pass/Fail:  As long as the expected endpoint results are obtained, an assay is considered to be performing well.  The drawback of this approach is that it is reactive, rather than proactive:  A sufficient number of failures must occur within a given timeframe before a troubleshooting investigation is performed.  By the time a problem is recognized, resources have been wasted and turnaround times (TAT) delayed; in some cases, fidelity of patient results may even have been put at risk.  Additional time and costs are then incurred as the investigation proceeds.

Specimen analysis by NGS yields a wealth of information in addition to endpoint variant calls that is indicative of assay performance.  Data such as nucleic acid quantity and quality at different steps throughout the workflow (PDF) and sequencing library characteristics are generated every time a reference material is tested.  However, these data must be carefully tracked and trended to allow use as highly informative QC parameters.  For clinical laboratories whose primary focus is on patient testing and reporting, granular QC metrics may not be captured and reviewed as part of routine test monitoring.

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Topics: NGS, NGS assays, next gen sequencing, Reference Material, False Negative, False Positive, Sequencing quality control, ctDNA, qcdata management, QC Challenges

Clinical Laboratories: You Are Not Alone.

“Ensure NGS-based tests for Personalized Medicine are safe and effective for guiding medical management decisions”

Posted by Matt Ryder on Nov 8, 2016 1:06:00 PM

Since the introduction of the GS20 in 2005 by 454 Life Sciences, Next Generation Sequencing (NGS) has found many applications in clinical diagnostics.  As a result of this transition from the long-held gold standard, Sanger sequencing, the primary challenge for clinical laboratories has shifted from data acquisition to ensuring these tests are safe and effective for guiding medical management decisions.

Many laboratories struggle to gain a thorough understanding of the analytic performance characteristics of their NGS tests.  The difficulty arises from the fact that these assays are comprised of highly complex, fragmented workflows, and have many different intended uses.  However, across the various practices currently used for NGS assay development, validation, and performance monitoring, there is a common goal: results must be as accurate, precise, and consistent as possible.

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Topics: NGS, NGS assays, next gen sequencing, Reference Material, False Negative, False Positive, amp2016

 
 

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