Genome Profiling (Wayne, Pa) and a prominent Parkinson’s Disease and Movement Disorder Clinical Care and Research Center have commenced a research collaboration to identify a novel blood-based immune system biomarker to diagnose early-stage Parkinson’s disease (PD). Genome Profiling will apply its proprietary method and machine learning (ML) platform to identify an interactive network of genomic DNA methylation sites (an EpiMarker) that is unique to the immune system of PD patients.
Currently there are no non-invasive biochemical methods for the diagnosis of PD beyond clinical examination by a neurologist. In early stage PD definitive diagnosis is particularly challenging. At that stage it is hard to discriminate between PD and other neurological disorders with completely different biology but very similar symptoms. Having a blood based EpiMarker that discriminates based on biology would be a valuable advance. Genome Profiling is funding the process and the collaborator is providing patient consented blood samples and clinical expertise.
Presuming success, a second step would be to translate the early PD EpiMarker into a simple blood test that can be ordered by the diagnosing physician to confirm their observational PD diagnosis versus other forms of parkinsonism or essential tremor. Today, the accuracy of observational diagnoses can range from roughly 25% – 50% in early stage patients where early treatment may significantly improve and reduce the costs of long-term disease control and management. A radioactive imaging DAT Scan test with a positive predictive value (PPV) >90% is an option, but it is invasive and expensive and requires a separate visit to a hospital or imaging center and may not be covered by payor plans. An easy to order and administer lower-cost clinical blood test with a PPV in the 80 – 90% range would address a large underserved need and deliver significant benefits to patients, clinicians and payors.
Another beneficiary of such a blood test would be the biopharma companies that are developing drugs to treat PD. They could use the test to more assuredly select PD patients into their clinical trials, thereby improving clinical trial outcomes leading to a higher likelihood of drug approval for commercialization.
Adam Marsh, Genome Profiling’s Chief Science Officer and Co-Founder conveyed, “We are privileged to be able to work closely with this renowned team of PD clinicians and researchers. Their PD clinical knowledge and insights are a tremendous complement to Genome Profiling’s expertise. The collaboration has great potential to result in better patient care practices and new insights into early intervention therapies.”
According to Mark Anderson, Ph.D., Genome Profiling’s VP EpiMarker Solutions, “A blood test with a high positive predictive value (PPV) for early stage PD would be transformational because it would extend a significantly better, more consistent, and lower-cost paradigm of patient care across institutional and community care practitioners. We are very enthused to be working closely with this clinical partner to apply Genome Profiling’s novel method and platform for decoding the immune system’s unique epigenetic reaction to the presence of early PD.”
Jeb Connor, Chairman, CEO and Co-Founder
Genome Profiling is a functional genomics company leading the decoding of the sentinel power of the immune system’s unique epigenetic responses to the stressors of disease into a new class of clinically actionable biomarkers – immune-system derived epigenetic biomarkers called EpiMarkers. Novel EpiMarkers are translated into transformational drug response prediction and diagnostic phenotypic blood tests that accelerate the promise of precision health in Oncology/Immuno-Oncology and across the spectrum of non-gene-mutation-driven diseases. Uniquely distinguishing Genome Profiling is its proprietary, cloud-based, machine-learning-enabled bioinformatics platform called the EpiMarker Platform for rapidly profiling, discovering and validating each unique genome-wide immuno-epigenetic response to a disease into an in silico EpiMarker that, for example, when matched to a drug can phenotypically stratify patients who will be responders vs non-responders to the drug from a simple blood test to improve patient selection into clinical trials and for development into a CDx for the drug. Likewise, novel EpiMarkers and their derivative tests are proving to be powerful diagnostic tools, all elucidating new clinically actionable biology beyond what current gene mutation biomarkers and techniques can achieve.