Test developed to identify gene mutations linked to retinoblastoma

Children's Hospital Los Angeles announced Monday that researchers have developed a sequencing test for retinoblastoma.

The RB1 NextGen sequencing panel deviates from previous approaches and will allow for earlier and more comprehensive results, which will positively influence treatment, according to the release.

“Typically, we have used NextGen sequencing capability to sequence many genes at a relatively low depth of coverage,” Alexander Judkins, MD, FRCP, head of the Department of Pathology and Laboratory Medicine, said in the release. “Our team took a very different approach by deciding to look at a high depth of coverage of a single gene, sequencing through the entire gene, which is technically very difficult to do.”

"Historically, genetic testing can take up to 3 or 4 months – which is a very long time when a child’s health is at stake,” Jonathan Kim, MD, director of the Retinoblastoma Program at CHLA, said in the release. “Doing our tests faster and on site has the potential to significantly improve treatments outcomes for all of our patients.”

The release also noted that siblings and family members of retinoblastoma survivors will benefit from the sequencing test, as the detection of the RB1 germline mutation can translate into an improved prognosis.

“This test enables our researchers to look at the RB1 gene more comprehensively,” Judkins said in the release. “The collection of new genomic data on RB1 will hopefully enable basic researchers to translate this material into biologically meaningful insights, leading to earlier detection and new treatments for both primary and recurrent disease.”