Metabolon, Inc., the global leader in metabolomics, today announced study results indicating that its technology is emerging as an effective tool in precision medicine. Results showed that its proprietary metabolomics platform enhances the interpretation of genetic data and has the potential to improve disease prevention and diagnosis in patient care. The study was conducted with Baylor College of Medicine, and results were published today in the Proceedings of the National Academy of Sciences (PNAS).

Metabolon analyzed blood plasma samples collected by Baylor from 80 healthy adults, with no serious diseases reported or known at the time. Investigators also obtained a detailed medical history and whole-exome sequencing (WES) data for each volunteer.

Metabolon's platform profiled about 600 metabolites covering 72 biochemical pathways and identified medical findings in nearly 25 percent of the subjects. Metabolic abnormalities pointed to potential damaging genetic mutations that were previously unidentified.

Additionally, early signs of diabetes, liver dysfunction and disruption of gut microbiome were identified among the volunteers. Metabolic responses to medications in some subjects also showed sensitivity to toxicity.

"We successfully spotted underlying health issues that were previously undetected or not highlighted in the genetic data," said John Ryals, Ph.D., president and CEO of Metabolon. "Whether used for routine health assessment or in conjunction with genetic sequencing, metabolomics should be considered an important tool in precision medicine."

There is growing appreciation that complex illnesses such as diabetes, cancer, cardiovascular and neurological diseases are caused by a combination of genetic and non-genetic factors. Metabolomics integrates the influences of genes, diet, lifestyle, environment and xenobiotics to aid in understanding gene function, how diseases originate, and biomarkers for health assessment and customized drug therapy.

"This study combines the functional measurement of metabolomics with the DNA gene variant sequences in an individual, moving us toward greater precision in genetic diagnosis interpretation," said Dr. Thomas Caskey, lead investigator and professor at the Department of Molecular and Human Genetics, Baylor College of Medicine.

"The impact of genetic and non-genetic factors needs to be taken into account for clinicians to make an informed diagnosis," continued Ryals. "Metabolomics has emerged as a powerful technology for precision medicine by dissecting underlying disease processes. This has set the stage for new ways to diagnose, monitor and provide guidance for treatment."