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Emedgene Provides an Automated Solution on an AWS Backbone for Genomics Diagnostics and Discovery at Scale

2020

Industry Challenge

There’s a huge underserved patient population that could benefit from early genomic diagnosis and intervention. The adoption of genomics is accelerating due to reduced sequencing costs, increased insurance coverage, and growing clinical utility for genomic testing. However, interpreting genomic data is a complex data science task performed by a limited number of geneticists worldwide, resulting in an interpretation bottleneck and interpretation costs as high as 50 percent of the cost of goods sold. 

Emedgene Provides an Automated Solution for Genomic Diagnostics & Discovery at Scale on AWS (23:11)
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When a clinician is seeking to understand a genotype/phenotype connection, technology can surface evidence for the clinician to consider. This is of course where companies like ours also benefit from the built-in infrastructure capabilities of Amazon Web Services."

Einat Metzer
Cofounder, Emedgene

Emedgene’s Solution

Emedgene, a genomics intelligence platform using artificial intelligence (AI), provides a fully automated genomics interpretation and research solution. “Emedgene provides an out-of-the-box solution with all the key components health organizations need in order to produce clinical and operational insights from genomics data,” says Einat Metzer, cofounder of Emedgene. By teaching machines to perform complex genomics data interpretation with AI, Emedgene enables high-throughput clinical and research genomics programs and expands healthcare organizations’ reach to more patients.

Benefits of Using AWS

Data science technology is changing the landscape of genomics sequencing and interpretation. “Just over the past few years, we’ve reached a point where the knowledge base, computation, and capabilities have all advanced enough that when a clinician is seeking to understand a connection between a genotype and phenotype, technology can surface evidence for the clinician to consider. This is of course where companies like ours also benefit from the robust infrastructure capabilities of Amazon Web Services [AWS],” says Metzer. According to one study that Emedgene conducted with Baylor Genetics, Emedgene’s AI engine is able to pick out clinically significant variants with 98 percent accuracy. Boston Children’s Hospital has integrated Emedgene with its genomics learning system, and its “research analyses led to the clinical confirmation of variants in many patients,” says Shira Rockowitz, data science lead at Boston Children’s Hospital. Using AWS tools enables genomics innovation, reducing Emedgene’s cost of applying AI to big genomics by 70 percent and accelerating AI model development and optimization.


About Emedgene

Emedgene enables the delivery of genomic-driven care to mass populations. It provides an automated solution for genomics diagnostics and discovery at scale, helping healthcare organizations successfully implement high-throughput testing and research.


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