MyOme Launches their Rare Disease Product Portfolio at ACMG 2025

Advancing Rare Disease Diagnostics with Whole Genome Insights

, /PRNewswire/ -- MyOme, a leader in clinical whole-genome analysis and polygenic risk scores, is pleased to announce the launch of its rare disease diagnostic offering at the American College of Medical Genetics and Genomics (ACMG) Annual Meeting on March 19, 2025. This milestone marks MyOme's first diagnostic product, part of a broader innovation roadmap aimed at transforming genomic medicine. MyOme's approach goes beyond current standards by leveraging whole genome sequencing (WGS) and laying the foundation for future diagnostic advancements aimed at increasing patient access and the fraction of patients accurately diagnosed.

A New Era in Rare Disease Diagnostics

Rare diseases affect over 300 million people worldwide.¹ Patients face a diagnostic journey of–on average–over six years and costing on average $10,000 to the health system, not accounting for the emotional trauma and lost productivity. Even then, only about 40% of people eventually get a diagnosis, leaving physicians and patients unsure about how to treat or manage disease². 50% Of those diagnosed are children and 80% of rare diseases have a genetic origin.²

MyOme's Rare Disease diagnostic product addresses these challenges by providing a more comprehensive WGS-based approach, promoting efficient and accurate diagnosis, leading to improved patient outcomes while shortening the time to diagnosis. Key features of MyOme's Rare Disease diagnostic test:

• Comprehensive Genomic Analysis: Built on a whole genome backbone, the test shortens the diagnostic odyssey by eliminating the need for multiple, sequential tests
• Flexible Testing Options: Available to order as genome and exome analysis (proband-only or with duo/trio analysis including up to two first-degree relatives to enhance variant interpretation), as well as copy number analysis.
• Patient-Centric Approach: Compassionate clinical support, transparent billing, and access to genetic counseling.
• Future-proofed Platform: WGS enables reanalysis as clinical profiles evolve, algorithms mature, and technology advances.

"As a clinician, I often see delays because genetic tests look at just one small piece of the puzzle. MyOme's genome backbone is a big step forward from the status quo—reducing the need for repeated tests and reauthorization by enabling ongoing reanalysis and reuse of genetic data. We've put significant effort into making the process of adding new information easy for patients and providers," says Dr. Akash Kumar, MD, PhD, CSO and CMO at MyOme. "I'm excited to use this product because of its focus on reflex testing and meeting patients where they are today. At ACMG, we'll be sharing our collaborative efforts using long-read sequencing to push our diagnostic yields even further."

Patients can submit a blood or buccal swab sample along with up to two first degree relatives. Samples and analysis are processed in a CLIA (spell it out) and CAP accredited lab.

ACMG 2025 Highlights

MyOme launched its Rare Disease diagnostic product at the American College of Medical Genetics and Genomics (ACMG) Annual Meeting on March 19, 2025. The event featured a special lunch session titled "Advancing Rare Disease Diagnostics" where attendees learned about the capabilities of MyOme's whole genome platform and its potential to transform rare disease diagnostics.

Speakers included Dr. Akash Kumar, MD, PhD, CSO and CMO at MyOme, Stephen Montgomery, PhD Associate Professor at Stanford University, and Danny Miller, PhD Assistant Professor at University of Washington.

In addition to the lunch session, MyOme presented two scientific posters that showcased the breadth of our genomic innovation:

1. "Evaluating the Clinical Utility of a Cross-Ancestry Integrated Risk Score for Coronary Artery Disease Prevention" - Poster #P314
2. "Assessing Breast Cancer Risk: A Comparative Analysis of Ancestry-Adjusted PRS Models in Women of Ashkenazi Jewish Heritage" - Poster #P105

For more information, visit myome.com. or join us at ACMG 2025.

References

1. Rare Disease International, Living with a Rare Disease. https://www.rarediseasesinternational.org/living-with-a-rare-disease/
2. Pandey, Rajshree, et al. "A meta-analysis of diagnostic yield and clinical utility of genome and exome sequencing in pediatric rare and undiagnosed genetic diseases." Genetics in Medicine (2025): 101398.

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 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

SOURCE MyOme, Inc