From Genome to Transcriptome to Methylome: A Journey Through the “-omes” Coming Soon to a Clinic Near You!

Microarray and NGS-based tests have dominated genetic diagnostics recently, but have known limitations, leaving many patients on a diagnostic odyssey. Through didactics and interactive workshops, this session will provide attendees with an in-depth review of the new genomic technologies that have been developed to overcome these limitations including long-read NGS (aka "third generation sequencing"), optical genome mapping, RNA sequencing, and whole methylome analysis. Attendees will gain a better understanding of the technologies, their benefits and limitations, clinical applications, and impact on test access and equity. 

Presented by:
1. Danny Miller, MD, PhD, FACMG
2. Linda Hasadsri, MS, MD, PhD
3. Ying Zou, MD, PhD, FACMG
4. Honey Reddi, PhD, FACMG 

Learning Objectives:
1. Describe genomic technologies that are currently use clinically, including their limitations.
2. Define new genomic technologies that can identify variants in the nuclear genome, including long read genome sequencing and optical genome mapping (OGM).
3. Compare and contrast short-read sequencing and long-read sequencing technologies.
4. Describe additional "omics" technologies, including RNA sequencing and whole methylome analysis.
5. Evaluate the clinical utility of advanced genomic technologies (AGT).
6. Illustrate the application of AGT to patient care through case examples.
7. Analyze disparities in the application of AGT and explore how AGT can improve testing equity.
8. Recognize the current vs future state of AGT.
9. Discuss challenges in the clinical adoption of AGT, including financial barriers and insurance coverage.
10. Analyze unsolved patient cases and identify AGT that may be beneficial. 

Continuing Education Unit Approval:
The National Society of Genetic Counselors (NSGC) has authorized National Society of Genetic Counselors (NSGC) to offer up to 5 Category 1 contact hours for From Genome to Transcriptome to Methylome: A Journey Through the "-omes" Coming Soon to a Clinic Near You! The American Board of Genetic Counseling (ABGC) will accept CEUs earned at this program for the purposes of genetic counselor certification and recertification. 

Successful Completion:
1. View recording
2. Pass quiz
3. Complete evaluation