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Reference Material Forum

9:30 a.m. to 3:30 p.m., Tuesday, Nov. 11, 2025 (Omni Seaport, Ensemble Ballroom Section B)

This forum will discuss genetic testing reference materials availability and needs (for test validation, quality control, and proficiency testing). Speakers will present a variety of current reference material development projects for molecular testing of inherited and somatic genetic disorders, and infectious disease followed by group discussion. We also want to hear your thoughts and facilitate active discussions to formulate a fuller understanding of your reference material needs for particular disorders, specific molecular methods, or specific genes. These may include inherited disorders, molecular oncology, infectious diseases and others.

Please note that the AMP Reference Material Forum is a noncommercial event.

Registration Fee: $15

On-site registration will be accommodated based on availability.

How do I register?

When you register for the annual meeting, make sure you select the forum add-on ticket to register for this event. If you do not plan to attend the meeting but wish to attend forum, please contact meetings@amp.org

Since this forum is an ancillary event, speakers and attendees are responsible for their own travel expenses. AMP does not provide support for participant expenses related to the forum.

*Please contact us for information regarding exhibiting, advertising and other commercial opportunities with AMP.


AGENDA

9:30 a.m. Pharmacogenetic Point-of-Care Testing: Quality Assurance and the Role of Artificial Materials in Implementation
Henry Thomas, EMQN CIC, Manchester, UK
10 a.m. Development and Evaluation of WHO Reference Materials for ctDNA-based Molecular Diagnostics
Leandra Lo Cascio, Medicines & Healthcare products Regulatory Agency (MHRA), London, UK
10:30 a.m. Contrived Reference Standards for Pharmacogenomic Variants
Yves Konigshofer, Ph.D., LGC Clinical Diagnostics, USA
11 a.m. Microbial Cell-free DNA Reference Materials for Infectious Disease Test Validation
Fred Christians, Ph.D., Karius, Inc., Redwood City, CA, USA
11:30 a.m. Lunch (on your own)
1 p.m. From Pilot to Product: The Somatic Reference Sample (SRS) Initiative’s Validated Somatic Reference Samples for Cancer Diagnostics
Maryellen de Mars, Medical Device Innovation Consortium, Washington, D.C., USA
1:30 p.m. Growing Biobanking Resources and Their Role in Reference Materials
Matthew W. Mitchell, Ph.D., Coriell Institute for Medical Research, Camden, NJ, USA
2 p.m. Developing Reference Materials for Optical Genome Mapping: Enhancing Validation and Quality Control in Genetic Testing
Ying Zou, Ph.D., Johns Hopkins University School of Medicine, Baltimore, MD, USA
2:30 p.m. When the Rubber Meets the Road: Opportunities and Challenges for use of In Silico Mutagenesis Resources for Clinical NGS Bioinformatics Pipeline Validation
Somak Roy, M.D., Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA
3 p.m. Development of a Gene Fusion Synthesis Method and its Application in Gene Variation Detection
Mei Li, MD PhD, The Second Hospital of Dalian Medical University, Dalian, China
3:30 p.m. Adjourn