A patient-centered approach to rare disease

Rare disease patients endure, on average, an eight-year journey to receive an accurate diagnosis. While individually uncommon, ‘rare diseases’ comprise more than 7,000 diverse conditions, 80% of which are caused by genetic factors, and affect 30 million Americans.

Sema4 is committed to improving the lives of these patients through the identification of rare diseases. From our beginnings, as an academic lab embedded in a large health system with a focus on rare disease, we have established ourselves as an early innovator in rare disease screening.

Our mission is to deploy CentrellisTM, our AI-driven health information platform, in concert with cutting-edge genomic testing and advanced data science to shorten the diagnostic odyssey for rare disease patients and improve their overall health trajectory. We also engage directly with patients and providers, placing us in a unique position to support biopharma companies with best-in-class solutions to drive next-generation drug discovery, development, and commercialization.

Genomic testing solutions for accurate diagnoses

Sema4 maintains a broad suite of next generation sequencing (NGS) and biochemical tests that allow us to identify rare disease patients faster and more efficiently, shortening the diagnostic odyssey for rare disease patients.

Our extensive catalog of tests ensures that we can deploy the most effective and accurate testing solution for each unique case. Sema4’s rare disease expertise spans the reproductive and life journeys, from our market-leading Expanded Carrier Screen through Noninvasive Prenatal Select, Natalis supplemental newborn screening, and an array of molecular and biochemical diagnostic NGS tests.

We will soon launch Traversa™, our proprietary medical exome platform, which will further assist in the research and development of rare disease testing solutions and therapies. Traversa deploys a low-pass whole genome along with the medical exome, which, combined with other sequencing modalities, provides the genomic data necessary to gain a deeper understanding of the genetics of rare disease.

Guided by our patient-centric mindset, we offer high-touch patient engagement to ensure we are creating the best end-to-end testing solution possible. This engagement includes access to our comprehensive genetic counseling services as well as digital tools that help us engage directly with patients and empower them to make more informed health decisions.

Leveraging Sema4’s data science and modeling expertise

Centrellis, our next-generation information and analytics platform, allows us to unlock key data-driven insights about the health trajectory of rare disease patients. Powered by our rich, longitudinal data and predictive modeling capabilities, we can support our Biopharma partners at each stage of the challenging rare disease drug lifecycle.

Our scientists have developed AI-based solutions to more easily identify patients with rare diseases based on phenotypic characteristics. By applying our significant data science and analytical expertise to longitudinal clinical data, we are able to identify potential rare disease patients that may be under- or mis-diagnosed. When combined with our genomic testing solutions, this approach allows us to empower clinicians to accurately diagnose patients and match them to relevant clinical trials or appropriate therapies.

Working with Sema4

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Real-World Data Analysis

Utilizing our longitudinal clinicogenomic dataset that is expanding across many health systems, Sema4 can characterize the patient journey and diagnostic odyssey of rare disease patients, enabling a better understanding of unmet need and enabling more rapid identification of rare disease patients.

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Sponsored Genomic Testing

Leveraging our substantial testing footprint, advanced data science, and ability to employ a variety of testing solutions, Sema4 is the ideal partner for sponsored testing programs. In conjunction with our Biopharma partners, we can support the diagnosis of rare disease patients, helping their healthcare providers to optimize their personalized therapeutic interventions.

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Clinical Trial Optimization and Recruitment

With our access to rich data and patient identification models, we can enable the design of optimal clinical trials and support our partners with identifying and recruiting eligible patients.

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CDx Development

Given our expertise in screening and testing for rare diseases, Sema4 is an ideal partner for developing companion diagnostics for rare disease therapies. In addition to the array of testing modalities we use today, we continue to explore cutting-edge solutions to enable efficient rare disease diagnosis, including long-read sequencing assay development.

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AI-Led Drug Discovery

By generating and integrating multi-omic data and applying advanced network modeling, we assist our partners in elucidating relevant biology surrounding rare disease targets for rare disease therapies.


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