Skip to main content
Premium Trial:

Request an Annual Quote

Perlegen Works With E-Med Records Provider


Perlegen formed a collaboration with an undisclosed electronic medical records provider and plans to mine its collection of clinical treatment and outcomes data to identify genetic markers and develop diagnostic tests that can help physicians personalize treatments for heart attack, breast cancer, hepatitis C, and nicotine addiction.

Perlegen said it will have exclusive access to 4 million patient records, from which it will identify subsets of records that meet inclusion and exclusion criteria for various discovery and replication studies to develop genetic tests.

Once these patient subsets are identified, Perlegen will work with healthcare providers to obtain DNA samples from these patients "in a HIPAA-compliant, IRB-approved manner."

The discovery of genetic markers to personalize treatments has "been long delayed by the lack of appropriate DNA sample sets linked with rich clinical information," Perlegen said in a statement. "But now, by collaborating to gain access to this dataset of long-term patient records integrated from multiple sources and mapped into a standardized, fully searchable data structure, Perlegen can quickly identify patients from whom properly consented, clinically meaningful DNA samples could rapidly be obtained."

Under the terms of the deal, the EMR provider will earn subscription and program fees, as well as milestone payments upon the launch of new diagnostic tests resulting from the collaboration. Perlegen will receive an ownership stake in the EMR upon the achievement of certain revenue levels.

"Right now the way medicine is practiced, it's kind of like [cooking] spaghetti: You throw it up against the wall and see what sticks," Perlegen CEO Bryan Walser says. Instead, "if you could group people so that they responded to a given therapy and you could focus on places where there is a choice in therapies … [then] the right drug would get to the right patient at the right time."

Turna Ray

PGx & Molecular Dx Notes

Beckman Coulter teamed up with the Immune Tolerance Institute, a nonprofit corporation founded in part by the University of California, San Francisco, to establish a center that will study the roles that the human immune system plays in diseases. The Center for Critical Path Immunology will integrate genomic, proteomic, bioinformatic, and cellular technologies to study immune functions in patients with immune-related and other diseases.

New research published in Nature Medicine suggests that variants in the CCL3L1 and CCR5 genes can help predict an individual's response to an HIV treatment aimed at decreasing viral load and bolstering immune system function.


$6.7 million
Amount Synchron Research Services paid for a biomarker and bioanalytical research facility.

Funded Grants

$210,995/FY 2007
DNA-Based Biomarkers for Multiple Sclerosis
Grantee: Victor Levenson, Northwestern University
Began: Jul. 15, 2007; Ends: Jun. 30, 2009
With this grant from the National Institute of Neurological Disorders and Stroke, Levenson will use a novel assay to analyze DNA methylation and identify epigenetic changes specific to multiple sclerosis. He and his team aim to come up with composite biomarkers that can be used to detect disease progression biomarkers that function in patients in remission or during MS exacerbations.

$215,250/FY 2007
Blood-based Lipid biomarkers reflective of Alzheimer-associated neurodegeneration
Grantee: Michelle Mielke, Johns Hopkins University
Began: Jul. 15, 2007; Ends: Jun. 30, 2009
Mielke proposes a proof-of-concept study to explore the clinical utility of a number of potential biomarkers for Alzheimer's disease, contending that a blood-based biomarker would be superior to CSF-based or brain imaging biomarkers based on cost, invasiveness, and feasibility. Mielke's team is working with 75 well-characterized individuals in a longitudinal imaging study.

The Scan

Single-Cell Sequencing Points to Embryo Mosaicism

Mosaicism may affect preimplantation genetic tests for aneuploidy, a single-cell sequencing-based analysis of almost three dozen embryos in PLOS Genetics finds.

Rett Syndrome Mouse Model Study Points to RNA Editing Possibilities

Investigators targeted MECP2 in mutant mouse models of Rett syndrome, showing in PNAS that they could restore its expression and dial down symptoms.

Investigators Find Shared, Distinct Genetic Contributors to Childhood Hodgkin Lymphoma

An association study in JAMA Network Open uncovers risk variants within and beyond the human leukocyte antigen locus.

Transcriptomic, Epigenetic Study Appears to Explain Anti-Viral Effects of TB Vaccine

Researchers report in Science Advances on an interferon signature and long-term shifts in monocyte cell DNA methylation in Bacille Calmette-Guérin-vaccinated infant samples.