Probably Genetic Secures $10M ARPA-H Contract to Build AI-Driven Rare Disease Dataset
San Francisco-based healthcare AI startup Probably Genetic has been awarded up to $10 million from the Advanced Research Projects Agency for Health (ARPA-H), an agency within the U.S. Department of Health and Human Services. The contract, awarded under ARPA-H's Rare Disease AI/ML for Precision Integrated Diagnostics (RAPID) program, supports the expansion of the company's patient-driven platform to accelerate diagnosis and clinical research for rare genetic conditions.
The award follows a $12 million Series A funding round reported by Fierce Healthcare to scale the company's dataset and support target discovery for biopharmaceutical partners.
Patient-Driven AI and At-Home Diagnostics
Over 400 million people worldwide live with rare genetic conditions, but patients average five to seven years to receive an accurate diagnosis. Probably Genetic addresses this diagnostic gap by collecting patient-reported symptoms directly online rather than relying on fragmented electronic health record systems.
Patients and caregivers complete an online intake form detailing symptom onset and severity. Machine learning models evaluate phenotypic patterns to determine eligibility for testing. Eligible participants receive at-home saliva or cheek swab sample collection kits without out-of-pocket costs or insurance requirements. Samples are analyzed by clinical lab partners using whole exome, whole genome, or targeted panels.
Following analysis, participants receive clinical lab reports accompanied by telemedicine consultations with licensed genetic counselors. De-identified phenotypic and genetic data are then integrated into Probably Genetic's platform, helping drug developers identify targets, stratify patient groups, and design clinical trials.
As reported by BioSpace, Probably Genetic has collected data from over 120,000 patients and partnered with more than 50 patient advocacy groups and 15 biopharmaceutical companies.
Founded by Oxford and Cambridge Scholars
Probably Genetic was co-founded by CEO Lukas Lange and co-founder Harley Katz.
Lukas Lange holds a PhD in bioinformatics and genetics from the University of Oxford as a Rhodes Scholar, an MPhil in Advanced Chemical Engineering from the University of Cambridge, and a B.Sc. from the Technical University of Munich. Prior to founding the company, he advised on biotech initiatives at the Bill & Melinda Gates Foundation and worked at Boston Consulting Group. His doctoral research analyzed patient genomes from the UK's 100,000 Genomes Project.
Harley Katz earned his PhD in Theoretical Astrophysics from the University of Cambridge.
Expanding Biopharma Partnerships and Product Teams
To manage growing commercial accounts and data co-development pipelines, Probably Genetic is hiring across its commercial and product divisions.
The company is recruiting a Director of Strategic Partnerships to lead biopharma and biotech client relationships end-to-end, managing data access pipelines, executing partner-facing education programs, and maintaining commercial infrastructure like deal templates and CRM hygiene.
Additionally, Probably Genetic is hiring a Forward Deployed Product Manager in San Francisco to own key biopharma account relationships, translate client needs into product improvements, deliver data-driven insight packages, and deploy AI tools to automate customer reporting.
Open Roles at Probably Genetic
| Role | Location | Work Mode | Salary |
|---|---|---|---|
| Director of Strategic Partnerships | San Francisco / Remote (US) | Remote | $160,000 – $210,000 |
| Forward Deployed Product Manager | San Francisco | Onsite | $155,000 – $195,000 |
