MyOme at ACMG

A New Lens in Rare Disease Diagnosis

Wednesday, March 11 | 12:15 pm – 1:15 pm | Room 341-342

This lunch session explores MyOme’s reframed approach to rare disease diagnosis, highlighting how integrating methylation signatures alongside genomic sequencing can reveal diagnostic insights missed by sequence data alone. Speakers will demonstrate how complementary modalities—including long-read sequencing—can improve interpretation, resolve challenging cases, and change how we think about diagnostic pathways in rare disease. Attendees will leave with practical perspectives on when and how these approaches can be applied in clinical genomics.

Speakers include:

Akash Kumar, MD, PhD CMO at MyOme

Danny Miller, MD, PhD Assistant Professor at University of Washington

Monica Hsiung Wojcik, MD, MPH
Attending Neonatologist and Clinical Geneticist

Divisions of Newborn Medicine & Genetics and Genomics

Director, Neonatal Genomics Program

Assistant Director, Robert's Program on Sudden Unexpected Death in Pediatrics

Medical Director, Manton Center Gene Discovery Core

FCSC Neonatology Director

Boston Children's Hospital
Lunch will be provided

Scaling the Genome: Elevating Rare Disease Diagnostics

Friday, March 13 | 10:45 am – 11:15 am | Exhibit Theater 1

This session explores how the partnership between Natera and MyOme streamlines the path from sample collection to clinical diagnosis. By combining Natera’s logistical scale and clinical coordination with MyOme’s advanced genomic analysis, this collaboration removes traditional barriers in the diagnostic pipeline.

Through clinical case studies, presenters will demonstrate how this unified approach identifies causative variants for complex cases more efficiently than siloed testing methods. Attendees will learn how integrating genome sequencing with a seamless support ecosystem provides a faster, more comprehensive solution for patients on a diagnostic odyssey.

Speakers include:

Akash Kumar, MD, PhD CMO at MyOme

Meredith Reichert, PhD SVP, Commercial at Natera

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Akash Kumar, MD, PhD

Chief Medical Officer, MyOme

Dr. Kumar is co-founder of MyOme, a clinical whole genome platform company, where he oversees medical and scientific efforts. Prior to MyOme, Akash trained in science and medicine at the University of Washington and completed his medical genetics residency at Stanford University. His scientific contributions include design and implementation of NGS-based methods with applications in cancer genetics and prenatal testing. He has published ten first-author publications in journals including Nature Medicine, PNAS and Genome Medicine and is a co-inventor on one licensed patent. As a practicing medical geneticist at Stanford, Akash believes that early diagnosis/intervention are essential to improve outcomes for children and families affected with disease.

Danny Miller, MD, PhD

Assistant Professor at University of Washington

Danny Miller is an assistant professor in the Department of Pediatrics and the Department of Laboratory Medicine and Pathology. His research interests include using long-read sequencing to identify missing disease-causing variations and understanding the impact of genomic variants detected by long-read sequencing. He is also interested in using long-read sequencing as a single clinical test to both increase the rate of genetic diagnosis and decrease the amount of time required to make a genetic diagnosis. Danny earned his medical degree and a doctorate in physiology from the University of Kansas. He teaches Principles of Human and Medical Genetics for the GCGP.

Monica Hsiung Wojcik, MD, MPH

Director, Neonatal Genomics Program

Assistant Director, Robert's Program on Sudden Unexpected Death in Pediatrics

Medical Director, Manton Center Gene Discovery Core

FCSC Neonatology Director

Boston Children's Hospital

Monica Hsiung Wojcik, MD, MPH, is a dual-certified attending neonatologist and clinical geneticist at Boston Children’s Hospital and an Associate Professor at Harvard Medical School. She serves as the Director of the Neonatal Genomics Program and Medical Director of the Manton Center Gene Discovery Core. Dr. Wojcik is the 2025 recipient of the ACMG Foundation’s Michael S. Watson Innovation Award. Her research integrates genomic sequencing into neonatal care to address rare diseases and infant mortality. A leading expert in perinatal genomics, she advocates for equitable access to diagnostic technologies to improve longitudinal outcomes for critically ill infants.

Meredith Reichert, PhD

SVP, Emerging Business at Natera

Meredith Reichert, Ph.D., is the SVP of Emerging Business at Natera, a leader in cell-free DNA and precision medicine. Leveraging her deep expertise in genomic diagnostics, she drives growth and strategic initiatives across Natera’s expanding portfolio.

Previously, she served as Chief Commercial Officer at Karius and was an Associate Partner at McKinsey & Company, where she specialized in healthcare strategy and market entry. Reichert holds a Ph.D. in Neurobiology and Behavior from UC Irvine. Her career is defined by bridging cutting-edge laboratory science with commercial scale to improve patient outcomes.

Learn more about our Rare Disease Testing

A New Lens in Rare Disease Diagnosis

Scaling the Genome: Elevating Rare Disease Diagnostics

Speaker Information

Akash Kumar, MD, PhD

Danny Miller, MD, PhD

Monica Hsiung Wojcik, MD, MPH

Meredith Reichert, PhD

Rare Disease Poster Session

ID:P207

Development of a Single Sequencing Platform for Variant Detection and Methylation Characterization