Credit: © Kirsty Pargeter/

PerkinElmer said it will provide support services to the Whole Genome Sequencing (WGS) Diagnostic Program of In-Depth Genomics (IDG) through a collaboration designed to bring genetic diagnosis to neurology patients across a range of conditions that include rare and orphan disorders.

Through the collaboration—whose value was not disclosed—PerkinElmer Genetics, the company’s biochemical and molecular screening laboratory, plans to provide IDG with clinical WGS, as well as interpretation services, and diagnostic report generation for the program.

“Our collaboration with IDG gives hope to rare disease patients who currently face the diagnostic odyssey, spending 10 years on average searching for a name and effective treatment plan for their conditions,” Madhuri Hegde, Ph.D., FACMG, vp and CSO, PerkinElmer Laboratory Services, said in a statement yesterday.

The WGS Diagnostic Program plans to ultimately sequence 100,000 genomes of patients who suffer from rare and undiagnosed conditions, using a network of neurologists that IDG has previously identified to screen approximately 2,500 patients through a gene panel. 

IDG will offer its program to any U.S. physician, and will fund the initiative at no cost to patients, PerkinElmer said, with the goal of enabling improved diagnoses and treatments. IDG added that it is “actively” seeking pharmaceutical and biotech partners to support the initiative.

IDG is also developing an interactive patient-centric education program that will cover both basic genomics and advances in disease therapies. The patient education effort 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,” added Plavi Mittal, Ph.D., IDG’s founder and CEO.

Dr. Mittal cited PerkinElmer’s prominence in newborn screening and its expertise in streamlining full sample-to-sequencer workflows for high throughput next generation DNA sequencing as reasons for selecting the company as its industry partner for the WGS Diagnostic program.

Through labs in the U.S., India and China, PerkinElmer performs screening and diagnostic testing, specializing in newborn screening and high throughput next generation sequencing for rare inherited diseases. PerkinElmer Genetics processes more than 500,000 samples a year through its two CLIA-certified clinical laboratories in Pittsburgh and Branford, CT. Testing menus include newborn screening, biochemical profiling, second tier molecular confirmatory testing, Sanger and NGS-based panels, and exome and genome sequencing.

Last month, PerkinElmer Genetics launched clinical genomics services that included “affordable” WGS and whole exome sequencing (WES) services, in combination with biochemical profiling designed for rapid genetic disease diagnosis. While initially focused on customers of its newborn screening and ViaCord umbilical cord blood stem cell collection services, PerkinElmer Genetics said, the company also developed a biochemical and molecular testing menu aimed at addressing other markets, such as pharmaceutical companies, and customers in China and India.

The announcement was timed for the 36th Annual Conference of the National Society of Genetic Counselors, held Wednesday through tomorrow in Columbus, OH.

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