Anna Evans, Ph.D., AAPS member and senior director of research at Metabolon, was recently interviewed by Chromatography Online about analytical techniques for metabolomics and the role of metabolomics in treating rare pediatric diseases.
She explains, “We have collaborated with clinicians in Texas for the last seven to ten years. Every week they send us samples from babies they have been unable to diagnose. The child will have been flagged as having a potential inborn error of metabolism through the inborn screening efforts. By running our discovery methodology, we've been able to increase their diagnosis rate by a factor of six.”
Evans will be leading a conversation at the 2023 AAPS PharmSci 360 with a Symposium on Metabolomics in the Clinic: Technical Hurdles and Success Stories on Wednesday, October 23 at 9 AM. The symposium will introduce the concept of metabolomics: the untargeted measurement of the metabolome, which is composed of the complement of small molecules detected in a biological sample. It will be explained that as a result, metabolomic analysis produces a global biochemical phenotype.
Evans will make the point that metabolomics has been used with great success in discovery research settings for nearly 2 decades. Application in translational and clinical domain (clinical metabolomics) for biomarker analysis or diagnostic purposes has proved more challenging. Nonetheless, there are multiple instances where metabolomics had significant clinical impact.
Evans will introduce examples where this was the case to include drug development-related examples, as well the development of a clinical metabolomics platform for the diagnosis of difficult-to-diagnose inborn errors of metabolism, and metabolite-based assays that can function as alternative to the oral glucose tolerance test and euglycemic clamps.
Together, these examples will illustrate the underlying themes that made these endeavors successful. In addition, Evans will complement this with a detailed assessment of the factors limiting a wider use of metabolomics in a clinical setting.