ARUP Experts Will Highlight the Latest in Genomic Sequencing at NSGC 2025

At the upcoming National Society of Genetic Counselors (NSGC) Annual Conference, ARUP experts will highlight the latest updates in genomic sequencing.

The conference, which provides an opportunity for genetic counselors to share the latest research, will be held November 7-10 in Seattle. Attendees can visit booth #217 to connect with ARUP's genetic counselors, learn about our extensive genetics testing menu, and access educational resources.

On November 17, 2025, ARUP will launch its updated genomic sequencing assay that will include copy number variants (CNVs), mitochondrial sequence variants, and SMN1 deletions for spinal muscular atrophy. The updates will provide important insights to guide diagnosis and treatment.

Whole genome sequencing (WGS) is a powerful diagnostic tool. Studies have found that using genomic sequencing as a first-tier testing strategy offers important clinical benefits, including increased diagnostic yield, decreased time to diagnosis, and cost savings. In a recent white paper, Hunter Best, PhD, FACMG; Steven Friedman, PhD; and Heidi Wiltse, MS, LCGC, provide an overview of key clinical studies that demonstrate the value of genomic sequencing, as well as emerging applications.

Due to the growing body of clinical evidence, the American College of Medical Genetics and Genomics (ACMG), the American Academy of Pediatrics (AAP), and the NSGC have updated their guidelines to recommend genomic sequencing as first-tier testing.

The full white paper from ARUP is available here.

Best has also recorded an online video lecture to highlight the clinical applications of WGS. His presentation discusses the benefits and limitations of WGS and provides an overview of several case examples that illustrate how this tool can be applied clinically. The cases discussed include examples from the Utah NeoSeq Project, a collaboration within the University of Utah that evaluated the utility of rapid WGS in critically ill infants in the neonatal intensive care unit (NICU), as well as several nonemergent cases.

The video is available online and offers free continuing education credit, including CME.

In addition, Karianne Herdman, BS, will give a presentation titled, "Revisiting the Genetic Counseling Assistant (GCA) Role in the Era of 96041." Herdman, who joined ARUP 11 years ago as the first support specialist, has since helped build ARUP's team of genetic counselor support specialists. Her presentation is now available on demand.

You can find more information regarding ARUP's genomic sequencing test updates here.

Kellie Carrigan, [email protected]