C. Thomas Caskey
Baylor College of Medicine, USA
Title: Metabolomics adds function to precision diagnosis
Biography
Biography: C. Thomas Caskey
Abstract
DNA sequencing provides a candidate list of genes/ mutations which account for an individual’s family disorder, personal disorder, and risk for medical disorders. It is not uncommon to identify DNA variants (VUS) which are difficult to interpret with regard to disease causation, since such interpretation relies heavily on disease data bases (HMGD/Clinvar/private).
The measurement of blood analytes (750 reality of 1500 detected) examines biochemical function on an individual basis. Three examples of metabolomics utility for DNA sequence interpretation will be presented. These include: 1) R/O VUS as disease causative, 2) Accurately diagnosing inborn error of metabolism both known and newly discovered, 3) identifying pathways and specific gene mutations in twin studies that were undetected by standard bioinformatics DNA based search tools.
These results have led us to utilize both metabolomics and whole genome sequence to achieve precision diagnosis and direct therapy interactions