Examining New Hypotheses for Undiagnosed Patients

Imagine suffering from a cold for over seven and a half years. If you are one of the estimated 350 million patients that suffer from a rare disease, that’s the average length of time it currently takes for the U.S. medical community to diagnose your ailment. And, if you are more severely ill, deathly ill, doctors may have no idea why you are sick or, worse yet, what to do.

That’s the genesis of the UnDx Consortium™. This organization brings together five precision medicine technology providers and prominent experts from medical centers and universities across the country to collaborate in an effort to produce new hypotheses for a set of six patients struggling with undiagnosed diseases. In a meeting today and tomorrow in San Diego, the UnDx Consortium will explore results of cutting-edge tests analyzing samples from these patients and their families.

“It has been 13 years since science mapped the human genome, but the promise of personalized medicine remains largely unfulfilled,” says Douglas Jamison, co-organizer of the UnDx Consortium and Chairman of Interome Inc. “Genetics alone is not enough to provide the answers we need. We believe there may be opportunities by applying precision medicine technologies in a multidisciplinary approach that, combined with gene sequencing, will offer new insights on these difficult medical cases.”

The UnDx Consortium is an initiative of precision medicine technology companies and scientists to explore how a multidisciplinary approach to precision medicine can provide information and answers for patients with undiagnosed diseases. Today’s meeting is the beginning of what is expected to evolve into an ongoing forum to explore the potential of combining precision medicine technologies to diagnose and treat disease.

The five technology providers that have donated their services to the UnDx Consortium include:

• Genome Profiling, LLC of Wilmington, DE, providing epigenetic analysis;

• The Lab of Rob Knight and the American Gut Project at the University of California San Diego (UCSD), providing microbiome analysis;

• KromaTiD, Inc. of Fort Collins, CO, providing a chromosomal imaging platform for the detection of chromosomal rearrangements;

• Metabolon, Inc. of Durham, NC, providing metabolomic analysis; and

• ORIG3N, Inc. of Boston, MA, providing both the sample collection and stem cell analysis.

The main question addressed by the UnDx Consortium is whether the contextual information provided by precision medicine technologies can be used in conjunction with genomic information to provide further hypotheses to the six patients covered in the documentary, Undiagnosed: Medical Refugees, and perhaps become a model to help other undiagnosed patients. The contextual information will complement genomic analyses previously performed in the CLARITY Undiagnosed Challenge, a virtual medical crowdsourcing effort established in conjunction with Boston Children’s and Harvard’s CLARITY Challenge, in an attempt to diagnose five patients whose undiagnosed odyssey was chronicled by the documentary Undiagnosed: Medical Refugees. The CLARITY Undiagnosed Challenge focused on combining the best methods for genomic sequence interpretation with clinical expertise.

The UnDx Consortium resulted from several conversations between Dr. Katia Moritz and Doug Jamison sparked by an early screening of the Undiagnosed documentary at the Strategic News Service™ Future In Review® conference in late 2015. The documentary filmmakers had been collaborating with Dr. Isaac Kohane, principal investigator for the Undiagnosed Diseases Network Coordinating Center, Boston Children’s Hospital’s Manton Center for Orphan Disease Research, the Harvard Medical School’s Center for Biomedical Informatics, and Illumina, Inc., to launch a project titled the CLARITY Undiagnosed Challenge.