Metabolon Blog

Diagnosing the Undiagnosed

Dr. Steve Watkins, Metabolon’s CTO, participated on the “The Future of Healthcare: Diagnosing the Undiagnosed” panel at last week’s Future in Review (FiRe) conference. In this video, he and panelists Dr. Katia Moritz, a clinical psychologist and documentary filmmaker, and Illumina’s Karen Possemato discuss the challenges and opportunities for patients and clinicians along an often-frustrating journey to find answers.

 

There are more than 60 million cases of undiagnosed disease in the U.S. and Europe, and 350 million cases worldwide. Undiagnosed and complex diseases, such as chronic fatigue syndrome, represent a large and expensive challenge for precision medicine.

As the medical community has come to appreciate that many diseases have genetic and non-genetic components, potential cures will likely depend on a multi-omics approach to speed diagnosis. We see enormous opportunity to impact this problem using the information unlocked by genetic sequencing and metabolomics.

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