MENLO PARK, Calif., March 12, 2026 /PRNewswire/ -- MyOme, a leader in clinical whole-genome analysis, announced an advancement in rare disease diagnostics at the American College of Medical Genetics and Genomics (ACMG) Annual Meeting. By integrating methylation signatures (epigenetic signatures) into its whole-genome platform, MyOme is moving beyond traditional DNA sequencing to resolve the complex cases that currently contribute to an average five-year diagnostic delay for rare disease patients^[1,2]. Recent meta-analyses confirm that a genome-first approach significantly increases diagnostic yield and clinical utility over legacy exome methods, providing the necessary foundation for MyOme's multi-omic innovations.^[3]

Natera Launches Zenith™ powered by MyOme

In a major step toward expanding patient access, MyOme is highlighting its strategic partnership with Natera (NASDAQ: NTRA) to launch Zenith™ powered by MyOme. Zenith is a premium exome and genome testing solution that brings MyOme's innovative genome-first platform to Natera's industry-leading clinical network.

The Zenith portfolio is available for commercial orders through Natera, bringing Zenith genomics to healthcare providers across the United States, leveraging its extensive electronic medical records (EMR) integration footprint, robust clinical support system and unparalleled experience in high-complexity genomics.

"Rare disease patients and their families endure lengthy and costly diagnostic journeys that often delay care and escalate emotional and financial strain," said Meredith Reichert, Ph.D., senior vice president of commercial and general manager of rare disease at Natera. "By combining MyOme's innovation with Natera's nationwide presence and clinical expertise, Zenith has the potential to transform rare disease diagnostics and provide definitive answers to more families."

The Methylation Advantage

Traditional genetic testing identifies changes in the DNA sequence, but requires separate testing to evaluate epigenetic modifications that dictate how genes are expressed. MyOme's new multi-omic approach leverages long-read sequencing to simultaneously analyze DNA sequence and methylation patterns to look for specific disease-related "epigenetic signatures."

At launch, MyOme will perform targeted confirmation for select conditions, with a strategic roadmap to rapidly expand the list of disease areas available on the platform. This added capability allows clinicians to (1) resolve variants of uncertain significance when a methylation signature is available for a gene and (2) assist in resolving imprinting conditions when parental samples are missing.

"It is increasingly clear that the next frontier in addressing rare diseases involves probing genome function alongside sequence." said Akash Kumar, M.D., Ph.D., chief medical officer at MyOme. "By introducing methylation analysis using long-read sequencing, we are taking an important step for comprehensiveness —one that can detect what standard sequencing approaches might miss on their own."^[4]

Starting in early Q2 2026, methylation analysis will be automatically integrated into all eligible rare disease exome and genome analysis orders.

ACMG 2026 Highlights

MyOme's presence at ACMG 2026 underscores its commitment to the medical genetics community:

• Corporate Partner Insights Session: "A New Lens in Rare Disease Diagnostics: Integrating Methylation and WGS for Comprehensive Diagnostics" – Wednesday, March 11, 12:15 PM (Room 341-342).
• Exhibit Theater: Scaling the Genome: Elevating Rare Disease Diagnostics, How the MyOme & Natera partnership streamlines the path from sample collection to clinical diagnosis through a unified support ecosystem - Friday, March 13, 10:45 am – 11:15 am (Exhibit Theater 1).
• Scientific Poster:
  • P207: Development of a Single Sequencing Platform for Variant Detection and Methylation Characterization
• Community Leadership: MyOme is the official sponsor of Medical Genetics Awareness Week (March 10–14), supporting the theme "Making a Difference Together."

For more information, visit myome.com/landing/myome-at-acmg.

About MyOme

MyOme is a clinical whole genome analysis company helping families understand their risk for diseases. As a leader in polygenic and AI-based integrative risk modeling, MyOme leverages the power of the whole genome, multianalyte and clinical data for a lifetime of meaningful and actionable insights. These capabilities can dramatically reduce healthcare costs and improve outcomes by catching disease earlier and taking steps to delay or stop their onset. Certified under the Clinical Laboratory Improvement Amendments (CLIA) and certified by the College of American Pathologists (CAP), MyOme is based in Menlo Park, California

References

1. The Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease. "From Idea to Action: 2024 End of Year Report." https://globalrarediseasecommission.com/pressrelease-2024eoyreport/
2. Rare Diseases: Individually Rare, Collectively Common. The Lancet Diabetes & Endocrinology, vol. 11, no. 3, 2023.
3. Pandey, R., et al. "A meta-analysis of diagnostic yield and clinical utility of genome and exome sequencing in pediatric rare and undiagnosed genetic diseases" (2025).
4. Negi, et al. "Advancing long-read genome assembly and accurate variant calling for rare disease detection." American Journal of Human Genetics (2025).

View original content to download multimedia:https://www.prnewswire.com/news-releases/myome-debuts-zenith-portfolio-with-natera-and-launches-long-read-methylation-analysis-at-acmg-2026-302711880.html

SOURCE MyOme, Inc