newborn screening


Paul Kruszka of GeneDx/Sema4 on Groundbreaking Newborn Sequencing Study

Last week, during the first International Conference on Newborn Sequencing, a landmark study to sequence the genomes of 100,000 newborns was announced. Called the GUARDIAN study, the project is the brainchild of Wendy Chung, Professor of Pediatrics at Columbia University. The study will take place in New York State and is somewhat similar to an ongoing project in the U.K. being done by Genomics England.

GeneDx/Sema4 has been chosen as the commercial lab partner for the study, and we're joined by their Chief Medical Officer, Paul Kruszka to learn about the parameters and goals of this historic study in North America.

First of all, Paul says the study goes from the 50 conditions currently being screened to 260 conditions, but that could go up during the study.

"We can expand. This is scalable. As new treatments become available in the future, we can scale past this. As a matter of fact, we're already working on the version 2 gene list. We're going to add about 100 more new genes. This is a living breathing project. The field is changing rapidly," he says.

As he infers here and says later in the program, it is the new treatments available that are driving the push toward whole genome sequencing for newborns. The therapeutic side is pushing the diagnostic side.

"Therapeutic advances are making this a necessity," he says.

There's now near consensus in the field among the guests we talk to on this program that we are headed toward whole genome sequencing at birth. How big a step in that direction is this study? What will success look like, and what will be the major obstacles?

Congrats to Wendy Chung and GeneDx/Sema4 on such a bold and important effort for patients and parents of patients.



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