AMP 2023

Thursday, November 16

11:15 a.m.–Noon
Robert S. Ohgami, MD, PhD, FCAP
Vice President, Institute for Research and Innovation in Diagnostic and Precision Medicine^TM
Medical Director of Hematopathology, ARUP Laboratories
Professor, University of Utah School of Medicine

11:45 a.m.–1:15 p.m.
Rong Mao, MD, FACMG
Medical Director of Molecular Genetics and Genomics, ARUP Laboratories
Professor, University of Utah School of Medicine

Noon–1 p.m.
Peng Li, MD, PhD
Medical Director of Hematopathology, ARUP Laboratories
Associate Professor (Clinical), University of Utah School of Medicine

Salika M. Shakir, PhD, D(ABMM)
Medical Director of Microbial Amplified Detection, AFB, ARUP Laboratories
Assistant Professor (Clinical), University of Utah School of Medicine

1–2 p.m.
Margaret Williams, MD
Medical Director of Hematopathology, ARUP Laboratories
Assistant Professor (Clinical), University of Utah School of Medicine

3–4 p.m.
Salika M. Shakir, PhD, D(ABMM)
Medical Director of Microbial Amplified Detection, AFB, ARUP Laboratories
Assistant Professor (Clinical), University of Utah School of Medicine

4–5 p.m.
Pinar Bayrak-Toydemir, MD, PhD, FACMG
Medical Director of Molecular Genetics and Genomics, ARUP Laboratories
Professor, University of Utah School of Medicine

Robert S. Ohgami, MD, PhD, FCAP
Vice President, Institute for Research and Innovation in Diagnostic and Precision Medicine^TM
Medical Director of Hematopathology, ARUP Laboratories
Professor, University of Utah School of Medicine

Noon–5 p.m.
Bella Church, MS, C(ASCP)^CM
Senior Healthcare Consultant, ARUP Laboratories

Friday, November 17

9 –10 a.m.
Peng Li, MD, PhD
Medical Director of Hematopathology, ARUP Laboratories
Associate Professor (Clinical), University of Utah School of Medicine

Salika M. Shakir, PhD, D(ABMM)
Medical Director of Microbial Amplified Detection, AFB, ARUP Laboratories
Assistant Professor (Clinical), University of Utah School of Medicine

11 a.m.–Noon
Sherin Shaaban, MD, PhD, FACMG
Medical Director of Pharmacogenomics and Molecular Genetics, ARUP Laboratories
Assistant Professor, University of Utah School of Medicine

Steve Friedman, PhD
Clinical Variant Scientist, ARUP Laboratories

Noon–1 p.m.
Benjamin T. Bradley, MD, PhD
Medical Director of the Institute for Research and Innovation in Infectious Disease Genomic Technologies, High Consequence Pathogen Response, Virology, and Molecular Infectious Diseases, ARUP Laboratories
Assistant Professor (Clinical), University of Utah School of Medicine

Steve Friedman, PhD
Clinical Variant Scientist, Genomics Analysis, ARUP Laboratories

Leigh Huynh, MBA
Senior Healthcare Consultant

1–2 p.m.
Hunter Best, PhD, FACMG
Medical Director of Molecular Genetics and Genomics and Operations Platform Director of Next Generation Sequencing, ARUP Laboratories
Professor (Clinical), University of Utah School of Medicine

2–3 p.m.
Joshua F. Coleman, MD
Subspecialty Director of Solid Tumor Next Generation Sequencing, ARUP Laboratories
Associate Professor (Clinical), University of Utah School of Medicine

3–4 p.m.
Benjamin T. Bradley, MD, PhD
Medical Director of the Institute for Research and Innovation in Infectious Disease Genomic Technologies, High Consequence Pathogen Response, Virology, and Molecular Infectious Diseases, ARUP Laboratories
Assistant Professor (Clinical), University of Utah School of Medicine

Thursday, November 16, 2023
10:15–11:45 a.m.

Economic Challenges of Delivering Molecular Diagnostics for Patients: PAMA, New Codes, and Prior Authorization
Comoderator: Jay Patel, MD, MBA
Vice President of PharmaDx and Clinical Trials
Professor (Clinical), University of Utah School of Medicine

Friday, November 17, 2023
7:00–7:15 a.m.

Male or Female? Integrated Molecular and Cytogenetic Testing Resolves Discordant Prenatal Results
Presenter: Ting Wen, MD, PhD
Fellow, University of Utah School of Medicine and ARUP Laboratories

7–8 a.m.

Case Studies in Solid Tumors II
Comoderator: Anna Matynia, MD
Subspecialty Director of Solid Tumor Non-NGS Molecular Pathology
Associate Professor (Clinical), University of Utah School of Medicine

Saturday, November 18, 2023
10:15–11:45 a.m.

Machine Learning Applications in Healthcare and Considerations for Building Effective Models
Comoderator: Sherin Shaaban, MD, PhD, FACMG
Medical Director of Pharmacogenomics and Molecular Genetics, ARUP Laboratories
Assistant Professor, University of Utah School of Medicine

1:45–2:15 p.m.

Panel Discussion for Working Group: Provider-Friendly Molecular Biomarker Reports
Panelist: Joshua Coleman, MD
Subspeciality Director of Solid Tumor Next Generation Sequencing, ARUP Laboratories
Associate Professor (Clinical), University of Utah School of Medicine

G029. Improving Systemic Mastocytosis Diagnosis With a Single-Well Multiplexed Assay for Detection of Hereditary Alpha Tryptasemia Genotypes
M. Deshotel, S. Hellwig, J. Schumacher, K. Karner, A. Rets, A. Matynia, M. Williams, G. Shestakova, R. Ohgami, T. George, P. Li

G018. TPMT and NUDT15 Genotyping, TPMT Enzyme Activity and Metabolite Determination for Thiopurines Therapy: A Reference Laboratory Experience
S. Shaaban, Y. Ji, K. Johnson-Davis

G072. Utility of Using a Seven-Deletion Assay to Confirm Ambiguous Large Deletions from MPLA-Based HBA Testing
P. Yu, A. Bowles, A. Mikelson, Y. Ji

G027. Managing Discrepant Sex Information During Clinical Molecular Genetic Testing – A National Reference Laboratory’s Perspective
Y. Ji, S. Shaaban, P. Krautscheid, S. Friedman, A. Mikelson, M. Graczyk

G056. Identification of a Novel RPS7 Non-Coding Variant in a Rare Form of Diamond-Blackfan Anemia by Whole Genome Sequencing
T. Wen, P. Bayrak-Toydemir, T. Wen, J. Meznarich, L. Botto, E. Baldwin, A. Andrews, J. Vagher, S. Boyden, T. Nicholas, A. Chapin, E. Fan, R. Mao, P. Bayrak-Toydemir

ID035. How Low Can You Go? Examining Lower Repeat Thresholds for Mpox Testing
R. Shean, W. Hymas, M. Pyne, J. Klein, D. Hillyard, B. Bradley

ID058. Nanopore Sequencing-Based Clinical Metagenomics Using aPoMP
V. Peddu, M. Jain, B. Bradley, D. Kim

H058. Pathogenic UBA1 Mutations Predispose Male Patients to Myeloid Neoplasms
F. Alnoor, F. Alnoor, G. Zheng, W. Xie, C. Zhao, A. Zieske, Y. Zu, M. Williams, P. Raess, S. Tantravahi, A. Osman, A. Patel, T. Kovacsovics, J. Patel, A. Matynia, M. Menon, T. George, J. Jacobsen, P. Szankasi, P. Rindler, R. Ohgami, P. Li