Host Gene Expression Signature in Whole Blood Could Yield Kawasaki Disease Diagnostic

August 6, 2018
Host Gene Expression Signature in Whole Blood Could Yield Kawasaki Disease Diagnostic
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Researchers from Imperial College London and the University of California San Diego School of Medicine say they have developed a blood test that can accurately identify Kawasaki disease (KD), an acquired childhood heart disease that can result in heart attacks, congestive heart failure, and death.

The research published in JAMA Pediatrics could pave the way for the test to be developed into a diagnostic that can distinguish KD from other infectious and inflammatory conditions with which it is often confused.

“As there is no diagnostic test for Kawasaki disease, late diagnosis often results in delayed or missed treatment and an increased risk of coronary artery aneurysms,” said Jane C. Burns, M.D., pediatrician at Rady Children’s Hospital-San Diego and director of the Kawasaki Disease Research Center at UC San Diego School of Medicine. “We sought to identify a whole blood gene expression signature that distinguishes children with KD in the first week of illness.”

The study group comprised 404 children from United Kingdom, Spain, Netherlands and the U.S., with KD or similar illnesses, with the majority of them recruited through Rady Children’s. The group consisted of 78 children with KD, with the other children in the study were affected by other bacterial inflammatory diseases, bacterial and viral infections.

Since the focus of the research was to develop a diagnostic, researchers sought to collect blood from KD patients within seven days of the illness presenting. An independent validation study also collected blood samples from patients within the first 10 days of signature to study how, or if, the genetic signature of the disease changes.

“A 13-transcript blood gene expression signature distinguished KD from the range of infectious and inflammatory conditions with which it is often clinically confused,” noted Burns, in a story posted online by UC San Diego Health. “A test incorporating the 13-transcripts might enable earlier diagnosis and treatment of KD, preventing cardiac complications and reducing inappropriate treatment in those with other diseases. Our findings represent a step toward better diagnosis based on molecular signatures rather than clinical criteria.”

The researchers will now turn their attention to a couple of different areas. First, new research will seek to determine how the test preforms in different context, i.e. among different patient cohorts and in other regions of the world since the KD incidence varies around the world based on ethnicity. Second, is the commercial development of an approved diagnostic for the disease.

“We are already in discussion with a number of biotechnology companies that might help us turn our gene signature into a test,” said Michael Levin, FMedSci, a professor of pediatrics at Imperial College London, on the college’s website. “An accurate test for KD could prevent many children worldwide from being diagnosed too late to prevent coronary artery damage. If we can develop a test based on our gene signature, this could transform diagnosis and enable early treatment of children affected by the disease.”