ARUP Medical Directors and Genetic Specialists To Showcase Latest Research at ACMG
March 5, 2026
ARUP medical directors and genetic specialists will showcase their latest research at the upcoming American College of Medical Genetics and Genomics (ACMG) annual meeting, March 10–14, in Baltimore.
Sherin Shaaban, MD, PhD, MSci, FACMG, ARUP medical director of Pharmacogenomics and Molecular Genetics, will participate in the R. Rodney Howell Symposium on Saturday, March 14. The symposium will focus on how to deliver pharmacogenomics at scale, including how to overcome barriers. Participants will provide examples of successful multidisciplinary care models. Shaaban will present the challenges and opportunities associated with the development of clinical pharmacogenomics tests.
Andrew Miller, PhD, a Laboratory Genetics and Genomics fellow at ARUP, will present findings from a retrospective study that investigated the effects of co-occurring and secondary cytogenetic abnormalities on the disease progression of pediatric B-cell acute lymphoblastic leukemia (B-ALL) for patients diagnosed with ETV6::RUNX1 fusion. Miller’s presentation will be held on Friday, March 13.
Tatiana Yuzyuk, PhD, ABMGG, ARUP medical director of Newborn Screening and Biochemical Genetics, will participate in the scientific concurrent session on false positives in biochemical genetics. Yuzyuk’s presentation will explore how diets and medications can influence biochemical genetic testing results. Her presentation will be held on Wednesday, March 11.
ACMG attendees will have an opportunity to connect with ARUP’s genetics experts by visiting booth #2106. At the booth, they will also learn about ARUP’s extensive genetics testing menu and how to access educational resources.
In November 2025, ARUP launched updated whole genome sequencing assays that include copy number variants, mitochondrial sequence variants, and SMN1 deletions. The updated assays provide crucial insights to diagnose and treat genetic disorders, and rapid genome sequencing plays an especially important role for the diagnosis of critically ill newborns.
A recent white paper by Hunter Best, PhD, FACMG, Steven Friedman, PhD, and Heidi Wiltse, MS, LCGC, provides an overview of current guidelines and key clinical studies that support the use of genome sequencing as a first-tier testing strategy. The full white paper is available here.
Review the list below for additional details on presentations and posters by ARUP experts.
Presentations
Wednesday, March 11, 3:30 p.m.
Scientific Concurrent Session; Ballroom II
Unexpected Influencers: Impact of Diets and Medications on Biochemical Genetic Testing
Tatiana Yuzyuk, PhD, ABMGG
Friday, March 13, 2026, 1:45 p.m.
Platform Presentation; Ballroom II
O51. The Co-Occurring Cytogenetic Landscape in Pediatric t(12;21)(p13;q22)/ETV6::RUNX1 Positive Acute Lymphoblastic Leukemia
Andrew Miller, PhD
Saturday, March 14, 2026, 10:15 a.m.
Rodney Howell Symposium; Ballroom I and II
Developing and Updating Clinical Pharmacogenomics Tests: Challenges and Opportunities
Sherin Shaaban, MD, PhD, MSci, FACMG
Posters
Thursday, March 12, 2026, 10:30–11:30 a.m.
O51. The Co-Occurring Cytogenetic Landscape in Pediatric t(12;21)(p13;q22)/ETV6::RUNX1 Positive Acute Lymphoblastic Leukemia
Jeffrey Jacobsen, MD, PhD; Jian Zhao, PhD, FACMG; Erica F. Andersen, PhD, FACMG; Bo Hong, MD, FACMG
P603. Secondary Findings Trends and Challenges in Clinical Genome Sequencing: A Clinical Laboratory’s Experience With an “Opt-In” Model
Kelsey Cone, PhD; Julie Solimine, MGC, LCGC; Patti Krautscheid, MS, LCGC; Steven Friedman, PhD; Rong Mao, MD, FACMG; Pinar Bayrak-Toydemir, MD, PhD, FACMG; Yuan Ji, PhD, DABCP, FACMG; Sherin Shaaban, MD, PhD, MSci, FACMG; Makenzie Fulmer, PhD, FACMG; Jian Zhao, PhD, FACMG; Lucilla Pizzo, PhD; Katie Rudd, PhD, FACMG; Erica F. Andersen, PhD, FACMG; Hunter Best, PhD, FACMG
P689. Maternal Mosaic Unbalanced Translocation Detected After Atypical cfDNA Screen
Rui Zhang, PhD; Danielle LaGrave, MS, LCGC; Andrea Procko, PhD, MS, CGC; Katie Rudd, PhD, FACMG
P749. Why Atypical Findings Matter: Follow-Up Testing Finds Diagnostic Results Related to Atypical cfDNA Screening
Rebekah Whitham, BS, MA; Hannah S. Anderson, MS, LCGC; Danielle LaGrave, MS, LCGC; Lauren Wallace, MS, LCGC; Katie Rudd, PhD, FACMG
Friday, March 13, 2026, 10:30–11:30 a.m.
P698. Identification of a Novel De Novo AFF4 Missense Variant in an Infant With Clinical Features Resembling CHOPS Syndrome
Coumarane Mani, PhD, MS; Patti Krautscheid, MS, LCGC; John O’Shea, PhD; Emily Fleming, MS, CGC; Vanina L. Taliercio, MD; David Viskochil, MD, PhD; Stacey Cole, MD, MBA, FACMG; Rong Mao, MD, FACMG
P706. Challenges in Molecular Test Interpretation in Patients With Prior Gene Therapy for Beta-Thalassemia and Sickle Cell Disease: One Laboratory’s Experience
Sara Brown, MS, LCGC; Benjamin Clyde, MS, MB(ASCP)CM; Kelsey Cone, PhD; Patti Krautscheid, MS, LCGC; Hunter Best, PhD, FACMG; Makenzie Fulmer, PhD, FACMG; Archana Agarwal, MD
Kellie Carrigan, kellie.carrigan@aruplab.com