Skip to main content
Premium Trial:

Request an Annual Quote

PerkinElmer to Collaborate With In-Depth Genomics on WGS-Based Diagnostic Program

NEW YORK (GenomeWeb) – PerkinElmer said today that it will collaborate with In-Depth Genomics (IDG) to support IDG's Whole Genome Sequencing Diagnostic Program, in order to bring genetic diagnoses to patients with neurological conditions, including rare or orphan disorders.

IDG, which will offer its program to any US physician, will be funding the initiative at no cost to patients. The company plans to ultimately sequence 100,000 genomes of patients who suffer from rare and undiagnosed conditions, and is seeking pharmaceutical and biotech partners to eventually aid in the development of therapeutics.

PerkinElmer Genetics — PerkinElmer's biochemical and molecular screening laboratory — will provide clinical WGS, data interpretation services, and diagnostic report generation to IDG, which 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," PerkinElmer Laboratory Services Vice President and CSO Madhuri Hegde said in a statement. "Genetic insight is critical for developing a treatment plan for patients with rare diseases, many of whom have no targeted therapies."

PerkinElmer has been expanding its clinical genomic testing services globally over the past year, including whole-genome sequencing for sick and healthy newborns. Last month, PerkinElmer Genetics started offering whole-exome and whole-genome sequencing for genetic disease diagnostics in newborns, followed last week by the launch of whole-genome sequencing for healthy children of families who are customers of ViaCord, PerkinElmer's cord blood and tissue banking business.

The Scan

Pig Organ Transplants Considered

The Wall Street Journal reports that the US Food and Drug Administration may soon allow clinical trials that involve transplanting pig organs into humans.

'Poo-Bank' Proposal

Harvard Medical School researchers suggest people should bank stool samples when they are young to transplant when they later develop age-related diseases.

Spurred to Develop Again

New Scientist reports that researchers may have uncovered why about 60 percent of in vitro fertilization embryos stop developing.

Science Papers Examine Breast Milk Cell Populations, Cerebral Cortex Cellular Diversity, Micronesia Population History

In Science this week: unique cell populations found within breast milk, 100 transcriptionally distinct cell populations uncovered in the cerebral cortex, and more.