This New Method of Screening Could Diagnose and Treat Rare Diseases More Quickly

According to a story from Science Daily, a team of scientists affiliated with UT Southwestern’s Children’s Medical Center Research Institute are hard at work pioneering an innovative new approach that could allow doctors to diagnose rare genetically linked diseases and identify viable treatments at a faster rate than current procedures. The process involves a two step method that combines a chemical analytic technique called metabolomics with DNA sequencing.

Diagnosing Rare Diseases

A great challenge in many rare diseases is the diagnostic process. For rare diseases without known genetic causes, symptoms are often the only way that a diagnosis can be determined. This puts the doctor and patient in a difficult position because diagnosis based on symptoms is not always reliable. Many rare diseases produce symptoms that are found in more common diseases as well, meaning that misdiagnosis is an all too frequent occurrence in these circumstances.

In diseases with known genetic causes, DNA sequencing can make for a faster and more accurate process. Regardless, many rare diseases progress steadily so early and prompt therapeutic intervention is often essential to ensure the best outcomes for patients. Therefore, any strategy to speed up the diagnostic process is a critical advancement.

Around a quarter of children admitted to hospitals are there as the result of symptoms associated with a rare, genetic disease. A significant proportion of these genetic diseases are known as inborn errors of metabolism (IEMs). Once diagnosed, many of these diseases are treatable with changes in diet and medication, but the critical point between when symptoms first appear and diagnosis can be a time of significant risk for the patient.

Enhancing Diagnosis With Metabolomics

The use of metabolomics in this approach is the critical step. It can detect small compounds in the blood, and in the diagnostic setting, the samples from a patient are compared to healthy samples. The approach allows for the detection of up to 20 times as many metabolites as other metabolic screenings. This level of detail is unprecedented. In a test of the approach, the two part method of DNA sequencing and metabolomics was able to successfully detect a genetic abnormality of the LIPT1 enzyme.

Hopefully more research with this approach will ultimately allow it to replace slower methods in the clinical setting.

The original study was published in the scientific journal Cell Reports.


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