At Bridge Informatics, most of our work and our clients’ needs are focused on research studies with a view toward translating to the clinic and treating human diseases. However, there may be a place for genomic sequencing and analysis in the clinic itself. Rapid genetic testing would be particularly useful for infants admitted into critical care with suspected genetic disorders, and NPJ Genomic Medicine recently published an analysis of a pilot research study of integrating rapid exome sequencing into a Neonatal Intensive Care Unit (NICU).
Testing for Early-Onset Genetic Disorders
Genetic disorders are often early-onset, with many presenting in development and thus at birth. Thus, many of the infants admitted to the NICU have suspected genetic disorders, but diagnosing these severe and often rare disorders has historically been a long, expensive, and invasive process.
Simple genetic tests have been highly effective for common diseases like phenylketonuria (PKU), a genetic defect in tryptophan metabolism. The PKU test is now often standard at birth since PKU is easily treated by monitoring a person’s diet. Though the rarer and more severe genetic disorders that present at birth do not yet have such effective treatments, a rapid diagnosis can still significantly improve the course of action and treatment that doctors take.
Rapid Exome Sequencing
As such, a pilot study was run at Boston Children’s Hospital performing rapid exome sequencing in 80 infants admitted to the NICU, with genetic disorders identified in 22 of the infants and many diagnoses directly impacting clinical treatment.
According to the analysis published in NPJ Genomic Medicine, rapid exome sequencing provides the same or slightly more diagnoses in the same amount or less time than other genetic tests. As it currently stands, the greatest advantage of this approach is decreasing the amount of time it takes for families and doctors to reach a diagnosis for the infant. However, as genomic analysis tools continue to improve, more disease-causing genetic variants will be able to be identified and this approach could increase in accuracy and diagnostic yield.
Outsourcing Bioinformatics Analysis: How We Can Help
In the meantime, genetic testing and bioinformatics analysis are moving forward thanks to research studies like those carried out by our clients. We can help you tackle the challenging computational task of interpreting genomic data. Bridge Informatics’ bioinformaticians are trained bench biologists, so they understand the biological questions driving your computational analysis. Click here to schedule a free introductory call with a member of our team.
Jane Cook, Journalist & Content Writer, Bridge Informatics
Jane is a Content Writer at Bridge Informatics, a professional services firm that helps biotech customers implement advanced techniques in the management and analysis of genomic data. Bridge Informatics focuses on data mining, machine learning, and various bioinformatic techniques to discover biomarkers and companion diagnostics. If you’re interested in reaching out, please email [email protected] or [email protected].