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PerkinElmer and In-Depth Genomics Team Up for Whole Genome Sequencing Diagnostic Program for Rare Diseases

publication date: Oct 16, 2017
author/source: PerkinElmer

In-Depth Genomics Leverages PerkinElmer’s Comprehensive Sequencing Services to Provide Whole Genome Sequencing to Neurology Patients 

perkinelmerPerkinElmer, Inc., a global leader committed to innovating for a healthier world, have announced an innovative collaboration with In-Depth Genomics (IDG) to support IDG’s Whole Genome Sequencing (WGS) Diagnostic Program that will bring genetic diagnosis to patients across a wide range of neurological conditions including rare/orphan disorders.  This collaboration will help pave the pathway towards improved diagnoses and treatments.  

IDG, which will offer its program to any U.S. physician, will also be funding the initiative at no cost to the patient, thereby providing universal access to the latest diagnostic technology.  The program plans to ultimately sequence 100,000 genomes of patients who suffer from rare and undiagnosed conditions.  This program will leverage the large network of neurologists that IDG’s leadership has previously worked with to screen approximately 2,500 patients through a gene panel.  IDG is actively seeking pharmaceutical and biotech partners who share the vision of transforming the landscape of diagnoses and therapies.

PerkinElmer Genetics will provide clinical WGS, interpretation services, and diagnostic report generation to IDG.  IDG will use the de-identified genomic and clinical data to support R&D in hundreds of rare neurological conditions. 

“Our collaboration with IDG gives hope to rare disease patients who currently face the diagnostic odyssey, spending ten years on average searching for a name and effective treatment plan for their conditions,” said Dr. Madhuri Hegde, Vice President and Chief Scientific Officer, PerkinElmer Laboratory Services.  “Genetic insight is critical for developing a treatment plan for patients with rare diseases, many of who have no targeted therapies.” 

Dr. Hegde and her team of experts at PerkinElmer have more than 20 years of experience in developing high throughput sequencing methods.  Dr. Hegde is actively engaged in the working groups of ACMG to define national standards for clinical genomics.  

IDG is developing an interactive patient-centric education program spanning basic genomics to advances in disease therapies, which will include webinars hosted by experts from its medical and advocacy consortium, peer-to-peer support groups, and one-on-one genetic counseling sessions.

“Our IDG platform plans to engage the patient community to become an educated force capable of participating in the data collection needed to strategically push research forward.  We selected PerkinElmer as our industry collaborator because of its market leadership in newborn screening and its expertise in streamlining full sample-to-sequencer workflows for high throughput next generation DNA sequencing.  PerkinElmer’s commitment to providing high quality analysis was the key differentiator,” said Plavi Mittal, PhD, Founder & CEO, In-Depth Genomics.  “This program is generating excitement from pharmaceutical and biotech companies who recognize the value of our innovative approach.” 

Dr. Mittal previously founded and led the Jain Foundation for 12 years with an effort to find a cure for LGMD2B, a rare form of muscular dystrophy that primarily affects adults.

Through its integrated laboratories in the U.S., India and China, PerkinElmer offers a global genomic lab testing platform that performs screening and diagnostic testing, specializing in newborn screening and high throughput next generation sequencing for rare inherited diseases,

PerkinElmer Genetics has two state-of-the-art CLIA-certified clinical laboratories based in Pittsburgh, PA and Branford, CT that process more than 500,000 samples a year. Its testing menus include newborn screening, biochemical profiling, second tier molecular confirmatory testing, Sanger and NGS-based panels, and exome and genome sequencing. 

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