We’ve been doing some ground-breaking precision medicine work
with Baylor Miraca Genetics Laboratories at Baylor College of Medicine using
to screen for inborn errors of metabolism (IEMs) since 2014.
Metabolomics is particularly well-suited for IEMs and an
important step for us in realizing the promise of precision medicine. Our ability to zero in on
patient-specific metabolic disturbance and identify biomarkers might help
physicians make a diagnosis more rapidly and also might guide long-term
clinical management with follow-up monitoring.
Last week, we presented a poster
demonstrating this success at the American Association of Clinical Chemists (AACC)
Annual Meeting. We are proud to share that our abstract
was one of 42 awarded a Distinguished Abstract Award by the National Academy of
Clinical Biochemistry from a group of 773 abstracts accepted for the AACC
IEMs are inherited metabolic disorders.
Most are caused by defects in the enzymes that help process nutrients, which
result in an accumulation of toxic substances or a deficiency of substances
needed for normal body function. Making a swift, accurate diagnosis of an IEM
is critical in preventing brain and other organ damage, and even death.
While there are several hundred
recognized IEMs, state public health programs only screen for 40 disorders or
fewer at birth, according to NIH. Currently, in order to accurately diagnose whether
an IEM is present requires running an array of different targeted assays, which
adds to costs and can ultimately only diagnose a limited number of IEMs.
Given the advances in metabolomics and our ability to
comprehensively cover broad classes of biochemicals with high accuracy and
precision, a single sample and assay may suffice for screening a wide number of
The Metabolon metabolomics platform differentiates
pathway-specific disorders by targeting multiple biomarkers along the same
pathway. Here, the platform clearly identifies disease-specific signatures to
distinguish a branched-chain amino acid disorders versus an unaffected patient.
Our platform screens for multiple disorders in a single
blood plasma sample and includes disorders screened with blood spots, as well
as other disorders that are not assessed with these diagnostic assays.
Traditionally, a sample may need to be run with 10 to 20 diagnostic kits to
reach the same conclusion.
There are other advantages, as well. The platform may
monitor therapeutic interventions and disease signatures simultaneously (if
both are illustrative through small molecule signatures).
Results suggest that metabolomic profiling may be far
more effective than currently available biochemical tests and reduce
unnecessary testing. One comprehensive method could successfully screen for
many genetic disorders that would ordinarily take many assay panels, saving
time and costs.
In addition to IEMs, metabolomics is likely to have
clinical value as a precision medicine tool for screening, monitoring and
treatment of a wide range of illnesses.