Next-generation sequencing (NGS) has caught the attention of clinically focused groups within lab medicine, and many want to adopt the technology. NGS is still new and very complex, however, which has made it a challenge for laboratories to implement this technology in an expedient manner.

Because the technology and software is evolving so rapidly, “it is difficult for laboratories that currently have NGS in house to stay abreast of new advancements for clinical NGS testing,” Linnea Baudhuin, PhD, a clinical molecular geneticist with the Mayo Clinic, told CLN Stat. Baudhuin also serves on the CLN editorial advisory board.

She and two other experienced laboratory directors at an afternoon symposium on July 29 at AACC's Annual Meeting & Clinical Lab Expo, “Personalized Genomic Medicine: Utilizing Today’s Technology to Individualize Patient Care” (34214), will discuss the basic concepts, benefits, limitations, and opportunities that surround NGS, in the hopes that laboratorians will gain valuable tools and tips to help them implement new NGS tests.

Baudhuin will be moderating the session and co-presenting with Christina Lockwood, BS, PhD, assistant professor with the University of Washington’s Department of Laboratory Medicine; Eric Duncavage, MD, assistant professor of pathology and immunology at Washington University School of Medicine; and John Black, MD, a professor of psychiatry and head of the psychogenomics lab at Mayo Clinic, which seeks to characterize genomic determinants of treatment responsiveness in psychiatric patients and cancer patients.

“The speakers for this session are experienced lab directors who have valuable first-hand knowledge of NGS testing. They will be able to provide insights, details, and tips for all aspects of NGS testing, from test design to post-implementation,” Baudhuin said.

The speakers will cover four main subtopics related to clinical NGS. The first will include an overview of NGS technology and a discussion of the opportunities this technology provides for clinical testing. “Included in the discussion will be current limitations of the technology that may impact clinical care, including limited detection of certain variant types and incidental findings,” Baudhuin said.

Other subtopics will cover:

  1. Managing the vast amounts of data NGS produces. This includes using different bioinformatics tools for mapping and alignment and quality assessment, the new role of bioinformatics specialists in the clinical laboratory, and data storage and security.
  2. Streamlining different aspects of NGS test design, development, validation/verification, implementation, and post-implementation, as well as using personnel effectively to ensure high-quality test results.
  3. Different aspects of reporting complex NGS results, such as creating reports that are accurate, clinically valid, accessible, and easy to understand. The value of preemptive genotyping and integrated reports with a focus on pharmacogenomics will also be discussed.
Register online to join this top-flight panel and discuss the timely issue of personalized genomic medicine.