PerkinElmer has entered a collaboration with In-Depth Genomics (IDG) to support IDG’s whole genome sequencing (WGS) diagnostic program, which aims to aid in the diagnosis of a wide range of neurological conditions with a focus on rare disorders. To start, the program will leverage a large network of neurologists that IDG’s leadership has previously worked with to screen approximately 2,500 patients through a gene panel. Eventually, the program plans to sequence 100,000 genomes of patients with rare and undiagnosed conditions. PerkinElmer Genetics will provide clinical WGS, interpretation services, and diagnostic report generation to IDG. IDG will also use the de-identified genomic and clinical data to support research and development related to hundreds of rare neurological conditions.
“Our collaboration with IDG gives hope to rare disease patients who currently face [a] diagnostic odyssey, spending 10 years on average searching for a name and effective treatment plan for their conditions,” said Madhuri Hegde, PhD, vice president and chief scientific officer of PerkinElmer Laboratory Services. “Genetic insight is critical for developing a treatment plan for patients with rare diseases, many of whom have no targeted therapies.”
IDG will offer its program to all U.S. physicians and will also fund the initiative at no cost to patients in the hopes of providing them with universal access to the latest diagnostic technology.