BioDiscovery: A Novel Integrated Approach to Clinical Genomic Analysis
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BioDiscovery: A Novel Integrated Approach to Clinical Genomic Analysis

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Soheil Shams, CEO, BioDiscovery Soheil Shams, CEO, BioDiscovery
Since the advent of advanced genomics, and the subsequent rise of automation, the data generated in clinical testing and research sees a 100 fold increase each year. Professionals in the field are having a tough time dealing with this rapid proliferation of data.

This has made the storage, security and management of patient data quite a daunting task for companies to mine the data to find the factors that drive a patient’s disease. That’s where BioDiscovery comes in. Their flagship solution NxClinical, is a unique software tool for integrated analysis of copy number, sequence variants, and allelic changes obtained from multiple technologies. The solution combines NGS and Array data through advanced mining and filtering techniques which allows the data to be clear and digestible for clinicians. “Our customers need speed, accuracy, and up-to-date knowledge. We have been refining our software for 20 years to be the best tool to assist clinicians in making these important decisions,” mentions Soheil Shams, the president and CEO of BioDiscovery. The company’s NxClinical software flags important variants and prevents them from being filtered out and thus invisible to clinicians. The phenotype can be linked to the genotype so that the most significant variants and genes rise to the top. Next, the software allows this information to be displayed in context with the parental data and all the cases that the clients have seen previously.

Being an established leader in genomic bioinformatics for more than 23 years, BioDiscovery offered the first commercial CNV calling package shortly after Copy Number Variants were discovered on microarrays. “Our calling algorithms have been used in over a thousand peer reviewed publications and have been validated in over 100 clinical laboratories around the world,” says Dr. Shams. BioDiscovery is viewed by many as the Gold Standard for CNV calling from any microarray or NGS platform.


Not all clinical labs use the same platforms or equipment manufacturers so our software can take in data from almost any platform


BioDiscovery’s mantra is 3D genomics: detect, display, decide. Once the variants are detected in a patient sample, they need to be displayed in the genomic context of other variants. There can be hundreds or thousands of variants in a patient sample which can lead to a lot of manual work for the clinician who has to interpret each variant one by one to assess its potential clinical impact. NxClinical makes this process much easier by significantly decreasing the number of variants that need to be manually reviewed through the use of sophisticated algorithms to remove benign variants and highlight potentially significant ones for further review. These variants are displayed in an intuitive user interface providing the reviewer all the information they need to quickly make their interpretation. This information includes immediate access to their internal database of previously analyzed similar cases as well as links to the relative public. In order to benefit the most clinical laboratories, BioDiscovery has taken an agnostic approach. “Not all clinical labs use the same platforms or equipment manufacturers. Our software is unique because it allows you to take in data from almost any platform,” informs Dr. Shams.

BioDiscovery continues to add tools to its software that allow the clinicians to get better results, faster analysis and resolve difficult cases. Dr. Shams mentions that the newest version of NxClinical will contain many powerful tools for cancer and constitutional studies enhancing their core cytogenomics business.

A guiding principle since Dr. Shams started the company was to listen and react to what customers are saying. And to date, BioDiscovery spends a great deal of time talking to customers, listening to their input on what they want in the software and then creating the next version to respond to their needs and wants. Furthermore, BioDiscovery takes great pride in its customer support and has most of the company involved in and focused on it. The company has expanded over the past couple years and is continuing to grow in revenue and people. “Our latest hires in sales and support are called Customer Success Managers because that is what their daily focus is all about. I especially want to thank our loyal customers who have been with us for 10-20 years. You are what makes us successful,” concludes Dr. Shams.

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Top 10 Genetic Diagnostics Companies - 2020
BioDiscovery

Company
BioDiscovery

Headquarters
El Segundo, CA

Management
Soheil Shams, CEO

Description
BioDiscovery enables scientists to eliminate disease and suffering through novel application of computational technologies and translating these findings directly and rapidly to clinical use