Machine Learning Approach by Personal Genome Diagnostics Outperforms Existing Mutation Detection Methods According to Study in Science Translational Medicine


—Peer-reviewed research using PGDx software demonstrates importance
of high-quality somatic mutation detection in clinical next-generation

BALTIMORE–(BUSINESS WIRE)–Personal Genome Diagnostics, Inc. (PGDx), a leader in cancer genomics,
today announced that its machine learning based technology, CerebroTM,
outperformed existing methods to identify tumor-specific, or somatic
mutations, enabling more accurate NGS clinical test results. The study, published
Science Translational Medicine, was conducted using
analysis of data from 1,368 samples.

Increasingly, NGS diagnostic tests are being used to identify genetic
alterations that help oncologists make decisions with their patients
about the potential effectiveness of therapies. However, different NGS
approaches have varying results, calling into question the ability of
NGS to detect real mutations,” said Sam Angiuoli, PhD, Chief Information
Officer at PGDx. “We know it is absolutely critical to get the right
answer for patients, so we pioneered the development of automated NGS
software that incorporates machine learning strategies to improve the
accuracy of somatic mutation detection. As this study reveals, our
approach yields better results compared to alternatives and highlights
the importance of combining state-of-the-art software and data science
in genomic testing.”

Cerebro’s machine learning approach analyzes a wide variety of
characteristics to assess whether any given identified mutation is real.
The accuracy of the Cerebro technology was compared to existing methods
for somatic mutation identification using simulated and experimentally
validated whole-exome and targeted gene analyses of cancer specimens.
Cerebro was able to detect tumor alterations with higher sensitivity and
positive predictive value (PPV) compared against other methods.

The Cerebro study also evaluated the importance of improved somatic
mutation detection in clinical NGS assays. PGDx performed head-to-head
comparisons of clinical sequencing with or without the Cerebro machine
learning approach, including a comparison of predicted outcomes for
patients treated with immune checkpoint blockade.

Highly-accurate mutation detection may be particularly important for
biomarkers like tumor mutation burden, or TMB, which correlates with
response to immunotherapies. Our data showed improved classification of
patients when using Cerebro and highlights the importance of accurate
mutation detection on treatment decisions,” said Dr. Angiuoli.

This study brings to light the variability in detecting tumor-specific
alterations across different NGS tests, underscores the importance of
standardization as NGS tests move into more routine clinical use, and
demonstrates the higher accuracy of PGDx’s solution when compared
against commercially available methods from other diagnostic companies.

Developing a highly-accurate bioinformatics software solution that
automates mutation detection is integral to PGDx’s approach to create a
complete solution, from DNA sample to high-quality patient result,”
noted John Simmons, PhD, Director of Translational Science and
Diagnostics at PGDx. “Our decentralized product approach includes
optimized assay chemistry combined with a fully automated bioinformatics
software platform, which reduces subjective analyses and increases
reproducible results. This comprehensive solution will enable local
testing in molecular laboratories worldwide, with a faster turnaround of
reliable results to support critical clinical decisions.”

About Personal Genome Diagnostics

Personal Genome Diagnostics (PGDx) empowers the fight against cancer by
unlocking actionable information from the genome. We are committed to
developing a portfolio of regulated tissue-based and liquid biopsy
genomic products for laboratories worldwide. PGDx was established by
researchers from Johns Hopkins University who are pioneers in cancer
genome sequencing and liquid biopsy technologies. For additional
information, visit


PGDx Corporate:
Megan Bailey, 520-820-8710
Vice President,

Peter Duckler, 773-343-3068
Director, Media


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