Rise of Genomics in Clinical Trials - 12

Rise of Genomics in Clinical Trials * A Proper Match: New NGS Method Up to Snuff for Tumor Analysis in NCI-Match Clinical Trial

were used in four networked laboratories accredited for the Clinical Laboratory Improvement Amendments (CLIA). Using formalin-fixed,
paraffin-embedded clinical specimens and cell
lines, we found that the assay achieved an overall
sensitivity of 96.98% for 265 known mutations
and 99.99% specificity. High reproducibility in detecting all reportable variants was observed, with
a 99.99% mean interoperator pairwise concordance across the four laboratories."
186 samples and 12 cell lines were tested at four
different laboratories. Steps were taken to
maximize standardization, including the development of standard operating procedures, use of
the same commercial assay and instruments, and
face-to-face discussions. The investigators found
that the assay results were highly reproducible,
with the same results across multiple laboratories.
This is critical for future clinical use leading to
improved patient outcomes.
"This analytical validation study clearly found that
the assay met the expected performance require-

12

| ClinicalOMICs.com

ment for the intended use," the authors penned.
"This validation effort indicates that NGS assays
can be robust and reproducible if the assay system is defined and standardized by locked SOPs.
The process described in this article can serve as
a template for other investigators who develop
and validate NGS assay systems."

in improved clinical outcomes," concluded
Elizabeth Unger, M.D., Ph.D., chief of the Chronic
Viral Disease Branch (CVDB), of the Division of
High-Consequence Pathogens and Pathology
at the Centers for Disease Control and Prevention.
"Although the success of the NCI-MATCH
trial cannot be assured, linking precision

Most importantly, the
authors noted that
"The validation study reported by Williams and
NCI-MATCH NGS assay was
colleagues is another step moving the field closer to
able to accurately deterthe time when precision medicine will generate the
mine genetic abnormalities
expected benefits in improved clinical outcomes," 	
in biopsies from the pancreas, melanoma, bone,
-Elizabeth Unger, M.D., Ph.D.
and skin samples, which
"suggests that nucleic acid
specimens recovered from
multiple tumor tissue types are acceptable."
laboratories to precision medicine trials assures
that data used for drug assignment will be
"The validation study reported by Williams
reliable. Further, the use of a commercial platform
and colleagues is another step moving the
and integrated analysis and reporting pipeline
field closer to the time when precision
will greatly facilitate the broader translation of
medicine will generate the expected benefits
any successes." n
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Rise of Genomics in Clinical Trials

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