From Womb to Lifelong Care: A New Vision for Rare Disease Data

The partnership with Komodo Health and the launch of GenomeDx Prenatal are both pivotal steps in our broader strategy to transform rare disease diagnosis and care by making genomic insights more comprehensive, actionable, and accessible from the very start of life.

By integrating Komodo’s Healthcare Map with our GeneDx Infinity dataset, we’re creating the world’s most complete longitudinal view of rare disease, linking deep genomic and phenotypic data with real-world patient journeys. This not only accelerates research and biopharma innovation but also enables us to better understand how rare diseases are diagnosed, managed, and treated over time, ultimately helping more patients get answers and access to effective therapies faster than ever before.

GenomeDx Prenatal extends our industry-leading diagnostic capabilities into prenatal care, offering rapid, comprehensive whole-genome sequencing for pregnancies with fetal anomalies. This means families and clinicians can access precise, actionable insights at one of the most critical moments in care, supporting informed decision-making and bridging the gap from prenatal diagnosis through lifelong support.

Together, these initiatives reflect our commitment to ending the diagnostic odyssey and accelerating the path to treatment by connecting earlier, more accurate diagnosis with a continuously learning network that benefits every patient, every family, and the entire rare disease ecosystem.

Current prenatal testing pathways often leave families and clinicians facing uncertainty and delays, especially when fetal anomalies are detected on ultrasound. Traditional carrier and non-invasive screening can only identify pregnancies at risk, not provide a definitive diagnosis, and stepwise testing approaches can take weeks or even months—time that is critical for decision-making. Many parents want as much information as possible to guide care, eliminate the diagnostic odyssey, and avoid misdiagnosis, but existing tests frequently fall short, leaving families without clear answers or actionable insights.

Powered by the breadth and diversity of the GeneDx Infinity dataset, the largest genomic rare disease dataset, GenomeDx Prenatal was developed to address these gaps by delivering rapid, comprehensive, and clinically relevant whole genome sequencing results, empowering families and clinicians with precise answers at one of the most critical moments in pregnancy, supporting timely counseling, care planning, and ultimately improving outcomes for both mother and child.

We know how critical answers are for families and clinicians facing critical decisions, as well as the depth and reliability of those answers. We achieved this balance by leveraging our Infinity dataset, the largest and most diverse rare disease genomic resource, to power rapid, trio-based whole genome sequencing with deep clinical interpretation. Our streamlined workflows, advanced AI, and expert review enable us to deliver comprehensive, phenotype-informed results in less than two weeks, so families get the full analytical depth they need, without the delays of traditional stepwise testing. This approach ensures that speed never comes at the expense of accuracy or insight, supporting timely, confident care decisions at one of the most important moments in pregnancy.

Linking GeneDx Infinity with Komodo’s Healthcare Map creates a new level of insight that wasn’t previously possible. While Infinity is already the world’s largest and most diverse rare disease genomic dataset, integrating it with Komodo’s real-world, longitudinal healthcare data allows us to connect deep genomic and phenotypic information with the full patient journey, including diagnoses, treatments, outcomes, healthcare utilization, billing, and claims data across more than 330 million de-identified patients. This means we can now illuminate how rare diseases are actually diagnosed and managed in real-world settings, accelerate health economics and outcomes research, enable more precise clinical trial design, and help biopharma partners identify unmet needs and develop therapies faster and fuel HEOR research, all while supporting more equitable research and care for diverse populations.

By integrating these datasets, GeneDx can now highlight not just which rare diseases a patient has, but also how those patients are actually managed over time, what treatments they receive, how effective those treatments are, what their health outcomes look like, and how they interact with the healthcare system.

This comprehensive, longitudinal view enables more robust health economics and research outcomes, supports better clinical trial design, and helps identify gaps in care and opportunities for earlier intervention, ultimately accelerating the path from diagnosis to improved patient outcomes and more effective therapies.

Our evolution from a diagnostics provider to a true driver of precision medicine is evident by expanding our impact across the entire patient journey. We are enabling earlier and more equitable diagnosis by integrating genomic insights into routine pediatric and prenatal care. We’ve built and continue to expand the world’s largest and most diverse rare disease dataset that connects diagnosis with real-world treatment patterns, outcomes, and healthcare utilization.

Now, by partnering with health systems, payers, policymakers, and data leaders, and by supporting new clinical guidelines and state-backed screening programs, GeneDx is not only accelerating access to answers but also powering a learning healthcare ecosystem that informs better therapies, closes gaps in care, and advances the promise of precision medicine for families everywhere.