Probably Genetic Awarded Up to $10M ARPA-H Contract to End the Rare Disease Diagnostic Odyssey with AI

Part of the RAPID program, Probably Genetic will scale patient-driven AI platform to accelerate rare disease diagnosis, research, and treatment

SAN FRANCISCO, Aug. 31, 2026 /PRNewswire/ -- Probably Genetic, the AI platform powering the research, diagnosis, and treatment of genetic diseases, has been awarded up to $10 million from the Advanced Research Projects Agency for Health (ARPA-H), a U.S. federal agency within the Department of Health and Human Services (HHS) that funds high-risk, high-reward, and transformative biomedical research. As part of ARPA-H's Rare Disease AI/ML for Precision Integrated Diagnostics (RAPID) program, Probably Genetic will leverage and build upon its rich dataset to aggregate data directly from patients and caregivers, revealing patterns that will dramatically reduce the diagnostic odyssey faced by rare disease patients. Beyond diagnosis, this data will form the backbone of multi-omic phenotype models that link real-world evidence to disease biology and give drug developers insights needed to identify targets, stratify patients, and design clinical trials.

"Investments by DARPA, the inspiration for ARPA-H, helped catalyze some of the world's most transformative breakthroughs, including the internet and autonomous vehicles," said Lukas Lange, CEO of Probably Genetic. "We believe ARPA-H's RAPID program has the potential to do the same for precision medicine. If we succeed, the years between 2026 and 2030 will stand out as some of the most meaningful for genetic disease innovation – when we helped build technology capable of changing the lives of 400 million people. In the process, we will assemble the largest AI-ready genetic disease dataset in history, removing what we believe is the final major bottleneck to making precision medicine accessible to all."

Over 400 million people across the globe have a rare genetic disease (including one in ten Americans), more than cancer and HIV patients combined. Yet half of these patients are currently undiagnosed, forcing them to navigate a complex "diagnostic odyssey" that can take an average of 5-7 years before finding answers. While AI holds promise in disease diagnostics, approaches to-date have been constrained by fragmented, low-quality data, including overreliance on incomplete electronic health records (EHRs) that lack critical details such as symptom onset, severity, progression, and morphological features.

As part of RAPID's overall mission to end the rare disease diagnostic odyssey, Probably Genetic aims to transform rare disease diagnosis by building the world's largest, patient-driven rare disease dataset through a novel, direct-to-patient approach. This dataset, which will integrate clinical records, patient-reported information, and biological data including DNA, will be used to train AI models to identify undiagnosed patients globally and power all stages of the drug development lifecycle from target discovery to endpoint selection for clinical trials. Patient data will be de-identified and only used for purposes patients gave their explicit informed consent to.

"Rare disease diagnosis remains one of medicine's most difficult and under-addressed challenges," said Scott Gorman, RAPID Program Manager at ARPA-H. "Through our RAPID program, ARPA-H is tackling this challenge by combining novel AI approaches with multimodal data to enable cross-disease detection at a speed and scale not previously possible — while also generating new insights to accelerate treatment development."

Probably Genetic has already demonstrated the impact of its direct-to-patient model: to date, Probably Genetic has collected data from more than 120,000 patients, and partnered with 50+ patient advocacy groups and 15+ biopharmaceutical companies. The company has developed an AI-platform that converts self-reported symptoms, prior clinical diagnoses, EHR data, and patient-provided multi-modal data into structured deep phenotypic data and provides at-home genetic testing to patients instead of relying on time-intensive, repeated specialist visits.

Through the RAPID program, Probably Genetic will substantially expand this foundation by deploying its AI-powered patient data submission portal across hundreds of rare diseases. The effort will recruit individuals with established diagnoses who meet RAPID's rigorous data and participation criteria, generating a large, diverse, and deeply characterized patient dataset. This resource will serve as a critical component of RAPID's broader national-scale data ecosystem, helping to fuel the development, training, and rigorous benchmarking of advanced diagnostic algorithms designed to shorten — and ultimately end — the rare disease diagnostic odyssey.

To learn more about Probably Genetic and its offerings, please visit www.probablygenetic.com.

This research was, in part, funded by the Advanced Research Projects Agency for Health (ARPA-H). The views and conclusions contained in this document are those of the authors and should not be interpreted as representing the official policies, either expressed or implied, of the United States Government.

About Probably Genetic
Probably Genetic is an AI platform that powers the research, diagnosis, and treatment of genetic diseases. Probably Genetic partners with drug developers, clinical labs, and patient advocacy organizations to expand access to genetic counseling and testing, while collating datasets and building algorithms that can be deployed to collect and analyze patient data en masse. The company's mission is to diagnose 200+ million patients living with genetic disease to help them access the treatments they need and catalyze the discovery and development of treatments using AI. For more information, visit www.probablygenetic.com.

SOURCE Probably Genetic