Genomenon | Top Precision Medicine Solution Company 2020
Healthcare Tech Outlook
About UsConferencePartner With Us
Home
>> Precision Medicine >> Genomenon

Genomenon
Bolstering Precision Medicine with Genomics

Genomenon: Bolstering Precision Medicine with Genomics

Follow Genomenon on :

Mike Klein, CEO, GenomenonMike Klein, CEO, Genomenon
Michigan-based Genomenon, a genomic health IT company, has its name derived from Ancient Greek, meaning ‘born out of need’. The story behind its inception aptly justifies the name and illustrates the ‘need’ that transformed the way genetic and cancer diagnoses, treatments, and discoveries are made. During his clinical practice and genomic research, Dr. Mark Kiel often got frustrated with the time-consuming process of manual curation. It was challenging to interpret genomic data in the right context of clinical research for precision medicine due to the manual effort to search and analyze the rapidly growing medical literature for disease-related genes and variants. While experts told him that it was impossible, he was determined to find a better way and joined forces with Steve Schwartz, an expert in big data and AI. Together they founded Genomenon to keep pace with the constant scientific and medical advancements made in genomics and connect that research to patient DNA to drive diagnostic and treatment decisions for patients with rare genetic diseases and cancer.

Genomenon provides a comprehensive genomicsearch platform named Mastermind to identify and analyze genetic evidence found across the complete corpus of scientific articles. Powered by its proprietary Genomic Language Processing (GLP) algorithms and genomic literature database, Mastermind finds every published association across genes, variants, diseases, phenotypes, and therapies with a simple Google-like interface. The search results empower scientists and researchers at pharmaceutical companies, clinical labs, and universities across the globe to understand diseases at a molecular level. “We are revolutionizing the way genomic informationis searched, made available, and understood,” says Mike Klein, CEO of Genomenon.

Genomenon powers precision medicine for both clinical and pharmaceutical research.


We are revolutionizing the way genomic information is searched, made available, and understood


At the clinical level, the Mastermind Genomic Search Engine connects patients’ variants in the context of a specific disease or set of phenotypes to clinically relevant search results and provides deep insight into each article relevant to patient diagnoses. “Our computational intelligence enables users to search across the most comprehensive collection of genetic literature, 8 million full-text genomic articles and 2 million supplemental datasets, to find the answers they need,” remarks Klein.

This can reduce variant interpretation time 5-fold and increase diagnostic yield by 10-12 percent, and assures repeatability in reporting genetic testing results. Thousands of doctors in over 100 countries use Mastermind to effectively diagnose cancer patients and babies born with rare diseases.

Pharmaceutical and biopharma companies look to understand the entire genetic landscape of a disease rather than case by case. To that end, Genomenon offers the Mastermind Genomic LandscapeTM, essentially a dataset with comprehensive genetic information backed by scientific evidence to drive successful precision medicine programs. Mastermind enables target identification and validation by providing the genetic drivers for a disease and pinpointing variants known to be pathogenic. The genomic landscape is also a powerful tool for identifying the genetic biomarkers needed to screen patients for clinical trial stratification.

Genomenon has been consistently recognized as an innovator since its inception. The company was recently named the 2020 Global Company of the Year in Clinical Genomics Interpretation by Frost & Sullivan for delivering comprehensive genomics data interpretation, resulting in more accurate diagnoses.

Later this year, the company will be the first to deliver a comprehensive genomic landscape for ALS (Lou Gherig’s Disease) for researchers and pharmaceutical companies focused on the disease. With its comprehensive genomics data interpretation for precision medicine, Genomenon is poised to maintain a strategic role in evolving value-based healthcare landscape, improving patient outcomes.

Top 10 Precision Medicine Solution Companies - 2020

Company
Genomenon

Management
Mike Klein, CEO, Genomenon

Description
Genomenonis a genomic health IT company that connects genomics research to patient DNA to help diagnose and develop precision medicines for patients with rare genetic diseases and cancer. The company provides a comprehensive genomic search platform named Mastermind to identify and analyze genetic evidence found across the complete corpus of scientific articles. The search results empower scientists and researchers at pharmaceutical companies, clinical labs, and universities across the globe to understand diseases at a molecular level. Genomenon was recently named the 2020 Global Company of the Year in Clinical Genomics Interpretation by Frost & Sullivan for delivering comprehensive genomics data interpretation, resulting in more accurate diagnoses

Genomenon News

Genomenon Combines AI with Scientist Curation to Offer Gene-Disease Insights

U.S. genomic intelligence company Genomenon has combined computer-based indexing of genomic publications with a scientific literature review to offer rapid insights into how genes can cause disease.
In a study that took less than six months, the company indexed 9.5 million full-text genomic publications with a systematic literature review conducted by genetic scientists.
Through this combination of natural language processing and parallel manual curation, it was able to identify thousands of gene-disease relationships (GDRs) and resolve variants of uncertain significance (VUS).
The findings were presented this week at the ACMG Annual Clinical Genetics Meeting in Toronto, Canada.
They follow last month’s release of 275 million previously unreported genetic variants as part of the National Institutes of Health (NIH) landmark All of Us program. Of those, nearly four million were in areas that may be tied to disease risk.
“With an onslaught of new sequencing data, it is becoming increasingly urgent to rapidly and accurately curate and characterize VUS and GDRs across all genes associated with the clinical exome,” said Genomenon’s chief scientific officer Mark Kiel, PhD.
He maintained that the results he presented demonstrated the power of integrating computational indexing with expert curation of scientific evidence.
“This approach allowed us to increase the speed and accuracy of defining variant pathogenicity, which is essential to keep pace with the publication of new variants and improve the precision of genetic diagnoses,” he explained.
Genomenon aims to provide genomic intelligence for pharma and clinical diagnostic labs, converting complex genetic data into actionable insights.
Specifically, it aims to uncover the genomic drivers of genetic disease and cancer to aid diagnosis and the development of precision medicine.
The company hopes to become the first to curate the entire human genome and understand the pathogenicity of any genetic variant.
It offers software, data, and curation solutions as well as a consulting service.
In the current study, Genomenon identified 10,745 germline GDRs and 5,973 germline GDRs with positive associations between a disease and gene.
This included 2225 genes, totaling 3075 curated GDRs, that were unique to the study.
Each GDR was accompanied by well-documented scientific evidence curated by Genomenon’s team of genetic scientists.
Results substantially agreed with ClinGen, the NIH-funded resource to define the the clinical relevance of genes and variants, at 79.8%.
Most discrepancies resulted from new evidence being published after the last ClinGen curation, reflecting the pace at which novel gene-disease relationships are being published.
Comparing the results with 12 separate groups submitting to the Gene Curation Coalition, a global effort to harmonize gene-level resources, revealed levels of disagreement of 14%. This was consistent with internal disagreement between individual submitters.
In his presentation, Kiel stated: “This study reflects an ability to curate the germline exome for gene-disease relationships using a combination of natural-language processing and massively parallelized manual curation.”