On the computer screen in front of him was the smoking gun responsible for the young child’s death. After analyzing the child’s DNA, Martin Tristani-Firouzi, MD, a pediatric cardiologist at University of Utah Health who also practices at Primary Children’s Hospital, knew what caused his patient’s heart to seize. A large chunk of DNA was missing, disrupting a gene that controls the heart’s rhythmic beating.
Had he known earlier, he may have been able to tailor the child’s medical care to prevent the worst from happening.
Tristani-Firouzi and a team of bioinformaticists and computer scientists at the USTAR Center for Genetic Discovery are developing a web-based app – called IOBIO – to assist doctors with providing clinical care based on information found within their patient’s DNA.
The complex nature of current genomic analysis tools means that physicians depend on bioinformatics experts to analyze genomic data. IOBIO is designed to change all that, making genomic results easy for physicians to interpret.
Following an iterative process of feedback and tool refinement, the research team is training a larger network of physicians, genetics counselors, and trainees to integrate the tool into clinical care.