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Next-Generation Sequencing, 2024

Next-gen sequencing—the anxiety, optimism, and goal

Laboratory-developed testing as it relates to next-generation sequencing was up first in the NGS conversation led online by CAP TODAY publisher Bob McGonnagle on March 19. Other topics: in-house NGS testing, artificial intelligence, and bioinformatics. “There’s a reality now where bioinformatics is solid, stable, and reliable,” said José Luis Costa, PhD, of Thermo Fisher Scientific.

May 2024—Laboratory-developed tests are top of mind for many people in laboratories. People who use next-generation sequencing panels and machines are, in many cases, heavily involved in laboratory-developed tests, in addition to the panels that many companies offer. Larissa Furtado, talk to us about the role of laboratory-developed tests in the context of next-generation sequencing testing.

Larissa V. Furtado, MD, molecular pathologist, St. Jude Children’s Research Hospital: They’re essential. In our practice, all the oncology NGS tests we have in-house are laboratory-developed tests. We don’t have FDA-approved tests.

Next-generation sequencing is a technology that evolves quickly. You can test multiple genomic anomalies at different genes simultaneously and multiple samples at one time. The flexibility of LDTs gives laboratories the ability to develop their own tests and update them according to their needs. I am in a pediatric hospital where most of our patients are in clinical trials, so we have a comprehensive testing approach, which may be different from other centers or smaller laboratories that use more targeted testing. With the existing accreditation requirements and framework, pathologists are well positioned to bring in these tests and ensure quality.

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