Adopting metabolomics to screen for inborn errors of metabolism will result in a more rapid, efficient and less expensive diagnostic procedure for individuals and families with rare metabolic disorders.
‘New untargeted metabolomics screening approach improves the diagnosis of metabolic disorders in newborns.’
“Currently, new-born screening is conducted in every infant born in the U.S. to check for serious but rare health conditions at birth. Screening includes blood, hearing and heart tests”, said corresponding author Dr. Sarah Elsea, professor of molecular and human genetics at Baylor and senior director of biochemical genetics at Baylor Genetics.
Inborn errors of metabolism are conditions that disrupt the normal processes the body uses to transform food into energy and can result in serious conditions. So, having an early diagnosis can lead to early treatment as soon as possible.
The researchers compared the results of applying the two approaches to 4,464 clinical samples received from 1,483 unrelated families. They discovered that the traditional standard analysis has a positive rate of diagnosis of about 1% but the untargeted metabolomics analysis has a positive rate of diagnosis of about 7%.
Analyzing many metabolic compounds in a single blood sample reduces the need of having more samples to do further testing for specific conditions and the time period between diagnosis and starting of treatment.
Using untargeted metabolomics in combination with genetic screening enables researchers and physicians not only to confirm a diagnosis with high degree of confidence, but also helps to rule out potential conditions.
This novel broader screening approach identifies severe forms and also mild forms of disease that may not fit the characteristics observed in the more severe cases.
Source: Medindia
