ARUP to Highlight Advancements in Laboratory Genetics at the Upcoming Annual Clinical Genetics Meeting

ARUP medical directors and scientists will present on a range of topics, from pharmacogenetics program implementation to ribonucleic acid (RNA) sequencing, at the Annual Clinical Genetics Meeting sponsored by the American College of Medical Genetics and Genomics (ACMG). The meeting will be held March 12–16, 2024, in Toronto, Canada.

Sherin Shaaban, MD, PhD, FACMG, medical director of Pharmacogenomics and Molecular Genetics, will present a session entitled, “Building a Robust Clinical Pharmacogenetic Testing Program at a Large National Reference Laboratory.”

As part of the same session, Yuan Ji, PhD, MBA, DABCP, FACMG, section chief of Molecular Genetics and Genomics, will provide an update on reimbursement, regulations, and professional guidelines related to pharmacogenetics.

Robert G. Lewis, PhD, a laboratory genetics and genomics fellow, will discuss the value of RNA sequencing during his presentation, “Beyond the Genome: RNA Sequencing Resolves Unique Diagnostic Challenges.” The presentation will examine several cases in which RNA sequencing, in conjunction with DNA sequencing, aided in the identification of genetic-related causes of disease.

In addition, several of ARUP’s medical directors and scientists will provide mentorship and education sessions for emerging laboratory geneticists.

Hunter Best, PhD, FACMG, operations platform director of Next Generation Sequencing and medical director of Molecular Genetics and Genomics, will present on genomic applications as part of the Laboratory Genetics and Genomics (LGG) Mentored Clinical Cases session. Participants in this session will be fulfilling a required component for the American Board of Medical Genetics and Genomics Alternative Pathway to Board Certification in Laboratory Genetics and Genomics.

Shaaban and Ji will participate on a panel that will explore various career pathways in medical genetics. Shaaban will discuss the laboratory genetics and genomics career pathway, whereas Ji will provide an overview of the ACMG Student Interest Groups (SIGS).

Kelsey Cone, PhD, a clinical variant scientist supervisor at ARUP, will discuss another option available to those interested in laboratory genetics—becoming a clinical variant scientist—with a focus on pathways to this career.

ARUP medical directors and scientists will be available to discuss the latest developments and answer questions about genetic testing. Conference participants can connect with them at booth #826. View the schedule below for more details.

Presentation Schedule
View the schedule of ARUP presentations below.

March 12, 2024
1:00–5:00 p.m.
LGG Mentored Clinical Cases: Genomic Applications
Hunter Best, PhD, FACMG

March 15, 2024
8:00—9:30 a.m.
Pharmacogenetics Implementation: Advancements From Bench to Bed Side

8:00–8:15 a.m.
Building a Robust Clinical Pharmacogenetic Testing Program at a Large National Reference Laboratory
Sherin Shaaban, MD, PhD, FACMG, Medical Director of Pharmacogenomics and Molecular Genetics

8:30–8:45 a.m.
Updates on Reimbursement, Regulation, and Professional Guidelines
Yuan Ji, PhD, MBA, DABCP, FACMG, Section Chief of Molecular Genetics and Genomics

March 15, 2024
1:30–3:00 p.m.
2024 Student Workshop: Pathways to Careers Within Medical Genetics and Genomics

1:40–1:45 p.m.
Laboratory Genetics and Genomics Career Pathway
Sherin Shaaban, MD, PhD, FACMG, Medical Director of Pharmacogenomics and Molecular Genetics

1:50–1:55 p.m.
Overview of the American College of Genetics and Genomics (ACMG) Student Interest Groups (SIGS)
Yuan Ji, PhD, MBA, DABCP, FACMG, Section Chief of Molecular Genetics and Genomics

March 15, 2024
1:30–3:00 p.m.
Platform Presentations - Laboratory Genetics and Genomics/Social, Ethical and Legal Issues (SELI), Public Health and Policy

2:00–2:15 p.m.
Beyond the Genome: RNA Sequencing Resolves Unique Diagnostic Challenges
Robert G. Lewis, PhD, Laboratory Genetics and Genomics Fellow

March 16, 2024
8:00–9:30 a.m.
Variant Scientists in Genomic Medicine

8:30–8:45 a.m.
Career Path of the Variant Scientist
Kelsey Cone, PhD, Clinical Variant Scientist Supervisor

Experts at ARUP’s Booth: Schedule

Visit booth #826 to connect with ARUP’s medical directors, discuss the latest developments in laboratory genetics, and more.

Wednesday, March 13
5:30–7:30 p.m.
Irene De Biase, MD, PhD, FACMG
Medical Director of Biochemical Genetics

Thursday, March 14
11:00 a.m.–noon
Sherin Shaaban, MD, PhD, FACMG
Medical Director of Pharmacogenomics and Molecular Genetics

Noon–1:00 p.m.
Makenzie Fulmer, PhD
Medical Director of Molecular Genetics and Genomics, Cytogenetics and Genomic Microarray

2:00–3:00 p.m.
Hunter Best, PhD, FACMG
Operations Platform Director of Next Generation Sequencing
Medical Director of Molecular Genetics and Genomics

3:00–3:45 p.m.
Erica Andersen, PhD, FACMG
Section Chief of Cytogenetics and Genomic Microarray
Bo Hong, MD, FACMG
Medical Director of Cytogenetics and Genomic Microarray

ARUP Posters and Abstracts

(O20) Beyond the Genome: RNA Sequencing Resolves Unique Diagnostic Challenges
Robert G. Lewis, PhD, Makenzie L. Fulmer, PhD, Jian M. Zhao, PhD, Lucilla Pizzo, PhD, Ting Wen, PhD, MBBS, John M. O'Shea, PhD, Thomas J. Nicholas, PhD, Steven E. Boyden, PhD, David H. Viskochil, MD, PhD, Nicola Longo, MD, PhD, FACMG, Ashley Andrews, MSN, CPNP, Erin Baldwin, MS, LCGC, Matt Velinder, PhD, Russell J. Butterfield, MD, Karin M. Dent, MS, CGC, Kourtney Santucci, MD, Austin Larson, MD, Rong Mao, MD, Lorenzo D. Botto, MD, Pinar Bayrak-Toydemir, MD, PhD 

(P020) Recommendations From the ClinGen Peroxisomal Variant Curation Expert Panel for Variant Classification in ABCD1
Shruthi Mohan, PhD, Irene De Biase, MD, PhD, FACMG, Tatiana Yuzuk, PhD, FACMG, Alexa Dickson, PhD, Tiziano Pramparo, PhD, Stephanie Francis, MS, CGC, Meredith A. Weaver, PhD, Raquel Fernandez, BS, Sharon F. Suchy, PhD, FACMG, Ann Moser, BS, Rong Mao, MD, Nancy E. Braverman, MD, MS

(P202) Effectiveness of Universal, First-Tier Genome Sequencing for Critically Ill Infants on Extracorporeal Membrane Oxygenation
Luca Brunelli, MD, PhD, Nick Carr, DO, Makenzie L. Fulmer, PhD, Jennifer A. Rumpel, MD, Abhishek Makkar, MD, Burhan Mahmood, MD, Sarah Keene, MD, Natalie E. Rintoul, MD, K. Taylor Wild, MD, Amir Ashrafi, MD, Semsa Gogcu, MD, MPH, Carrie Rau, BSN, David Pattison, MS, Hunter Best, BS, PhD, FACMG, Steven E. Boyden, PhD, Rong Mao, MD 

(P579) Towards Developing a Comprehensive Workflow for the Identification of Structural Variants Using Clinical Whole-Genome Sequencing
Lucilla Pizzo, PhD, Tracey Lewis, PhD, Ashini Bolia, PhD, Brendan O'Fallon, PhD, Erica F. Andersen, PhD, FACMG, Hunter Best, BS, PhD, FACMG

(P603) Utility of Cytogenomic SNP Microarray for Bone Marrow Failure Syndrome Patients
Lucilla Pizzo, PhD, Jian M. Zhao, PhD, Adam L. Clayton, PhD, Julie Feusier, PhD, Coumarane Mani, PhD, Zoe K. Lewis, MS, CGC, Rachel M. Lasher, MS, CGC, Denise Quigley, PhD, Katharine Rudd, PhD, Erica F. Andersen, PhD, FACMG, Bo Hong, MD

(P683) Comparative Analysis of a Targeted Pharmacogenomics Array Panel and Genome Sequencing in a Neonate on Extracorporeal Membrane Oxygenation
Anastasiya Mankouski, MD, Nicholas R. Carr, DO, FAAP, Makenzie L. Fulmer, PhD, Seyi Falekun, PhD, Rong Mao, MD, Luca Brunelli, MD, PhD, Gwendolyn A. McMillin, PhD

Kellie Carrigan, kellie.carrigan@aruplab.com