Jaundice Chip Paves Way for Disease-Specific Care
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| Researchers at Cincinnati Children's are working to make the technology available to clinicians and exploring the chip's usefulness as a tool for predicting treatment responses. |
Having developed the first gene chip that enables physicians to diagnose five hereditary causes of jaundice, Cincinnati Children's Hospital Medical Center is working to make the technology available to clinicians and exploring the chip's usefulness as a tool for predicting treatment responses.
In a study published in the January 2007 issue of Gastroenterology, lead investigator Jorge Bezerra, MD, a pediatric gastroenterologist at Cincinnati Children's, reported the "jaundice chip" is highly effective in detecting the five most common genetic mutations in children with inherited causes of jaundice. Those five diseases represent about half of all pediatric chronic liver disease cases.
Since publishing the study, Dr. Bezerra and his colleagues have expanded their research population to include more than 100 patients, with samples coming from five different countries. The chip is currently undergoing clinical testing necessary for approval by the Food and Drug Administration (FDA). Dr. Bezerra hopes the chip will receive FDA approval in the next six months to a year.
According to Dr. Bezerra, that approval would mean the chip could be directly available to clinicians so they don't have to go through a research protocol.
Predicting Treatments Based on Genetic Makeup
In the meantime, Dr. Bezerra is working to determine whether identifying genetic mutations can be used to predict treatment response. His team recently received a two-year grant from the National Institutes of Health to explore the issue and is currently evaluating patients who have undergone surgery to determine whether or not their genetic makeup might have predicted their response to surgery. Future research will likely address whether genetic testing can be used to predict a patient's response to medication.
Until now the broad array of causes of cholestasis – including genetic, metabolic, inflammatory and drug- or toxin-induced disorders – have made it difficult for physicians to diagnose and treat specific diseases. Without disease-specific information, it has been difficult for clinicians to develop new treatments and optimize care to help reduce the need for liver transplantation.
By screening for genetic mutations associated with five different liver diseases using a single milliliter of blood, the jaundice chip has the potential to promote early diagnosis, and it lays the foundation for disease-specific treatment. Gene chips contain several thousand small fragments of DNA on a small piece of glass. When incubated the samples produce chemical signals that enable technicians to determine whether the gene sequence is normal or one of the recognized mutations.
Currently patients often must endure a battery of blood, urine and other tests to identify the cause of their jaundice, and it's a process that is time consuming, expensive, stressful and sometimes invasive. By enabling physicians to identify genetic mutations, "This tool has the potential to simplify that approach and to decrease costs, decrease morbidity and speed treatment through earlier identification of diseases," Dr. Bezerra says.
"I think the tool offers clinicians the opportunity to simplify their diagnostic algorithm," he says. "It really paves the way for potential future studies to develop new treatments that can be tailored to a specific gene-based diagnosis."
