A Multiomic Approach to Diagnosing Patients and Accelerating Treatments

Inherited metabolic disorders (IMDs) are a vast and complex group of rare genetic diseases presenting throughout a patient’s life span, from the prenatal period through adulthood. More than 1,400 IMDs have been identified, and as a whole, they represent a common group of diseases with a prevalence of 1 in 784-2,555. Most importantly, some IMDs are treatable.

We have optimized the diagnosis of IMDs through a multiomic, one test solution that integrates genetic and biochemical testing as a first-line diagnostic tool for patients with IMDs.

We integrated genetic and biochemical testing in nearly 4,000 patients from 62 countries with suspected metabolic diseases. With this approach we obtained a high diagnostic yield of 37%, which is comparable to Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS). Furthermore, up to 43% of the patients could benefit from medical treatments (e.g., enzyme replacement therapy). This multiomic approach constitutes a unique and highly effective tool for the genetic diagnosis of IMDs avoiding stepwise testing and shortening the diagnostic odyssey for patients and families. The results from this study were published in the European Journal of Human Genetics.


  • Aida M. Bertoli-Avella , MD
  • et al.