Diagnostics tag team

WALTHAM, Mass. & BELLEVUE, Wash.—PerkinElmer Inc. recently announced a collaboration with In-Depth Genomics (IDG) to support the latter’s whole-genome sequencing (WGS) diagnostic program, which will bring genetic diagnosis to patients across a wide range of neurological conditions, including rare and orphan disorders. This collaboration will help pave the way toward improved diagnoses and treatments.

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 10 years on average—searching for a name and effective treatment plan for their conditions,” said Dr. Madhuri Hegde, 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 who have no targeted therapies.”

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

According to an IDG spokesperson, “This is the expansion of a program on which Dr. Mittal of In-Depth Genomics and Dr. Hegde of PerkinElmer have collaborated in the past. In-Depth Genomics provided the funding for a free screening panel of 35 genes for patients experiencing symptoms related to rare forms of muscular dystrophy. Around 2,400 patients were screened. This project was hosted by EGL and the Jain Foundation, Dr. Hegde’s and Dr. Mittal’s respective previous institutions. They have an eight-year relationship and have worked in numerous other projects together.

“This experience built trust between both parties, and when IDG wanted to grow the program beyond a screening panel, PerkinElmer’s value stood out from sequencing competitors. This relationship provides timely and high-quality sequencing to In-Depth Genomics at pricing that reflects PerkinElmer’s support of this effort.”

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.

“Given the current standards and expectations of insurance coverage for genetic diagnosis, a steep financial barrier restricts this informative testing from thousands of patients whose care would greatly benefit from genetic insight. IDG understands that to make its program truly successful, it has to be free to patients,” notes the IDG spokesperson. “At this time, In-Depth Genomics is exploring several options for creating a sustainable free testing model.”

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 platform allows for patients to interact directly with IDG, and we will survey the obstacles faced by rare disease patients collectively; we can learn about the experiences of individuals harboring specific genetic mutations. By partnering with leading players in big data and medical data analysis, spanning academia and industry, In-Depth Genomics will reduce competition and increase productivity that can benefit patients,” says the company’s spokesperson.

“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 Dr. Plavi Mittal, founder and CEO of In-Depth Genomics. “This program is generating excitement from pharmaceutical and biotech companies who recognize the value of our innovative approach.” 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.

“Recently, In-Depth Genomics partnered with a state-of-the-art natural language processing software company that is leading the AI technology in this area. This exciting partnership will deliver cutting-edge tools to IDG’s team to better define what symptoms may be linked with underlying genetic variation,” the IDG spokesperson concludes. “Our immediate goal is to begin patient recruitment for sequencing and research in early 2018, and we expect this to be focused on neuromuscular disorders, such as muscular dystrophies, metabolic diseases and diseases that affect motor neurons, among others. As conversations progress with other partners, it is likely that IDG will expand patient recruitment for other symptoms, and even complex genetic diseases like Alzheimer’s disease or Autism Spectrum Disorder.”