Probably Genetic provides free, clinical-grade genetic testing to help families find answers for unexplained symptoms related to rare diseases. The company utilizes AI and genetics expertise to facilitate at-home sample collection, CLIA-certified lab analysis, and subsequent genetic counseling. This service aims to end the diagnostic odyssey by identifying genetic variants that guide targeted treatments and healthcare decisions.
Funding
$10.7M raised to dateRaised to date based on public sources. This may differ from the amount the company actually raised and is based only on what is publicly available on the internet.
Founders
Product
Problem
Many individuals with rare diseases face significant delays and challenges in obtaining accurate diagnoses due to the complexity of these conditions and the limited availability of specialized testing. This diagnostic odyssey can lead to delayed access to appropriate care, clinical trials, and potential treatments, impacting patient outcomes and quality of life.
Solution
Probably Genetic offers a no-cost, at-home genetic testing program designed to accelerate the diagnosis of over 4,000 rare diseases. Individuals complete an online eligibility assessment, and if qualified, receive a saliva-based test kit for sample collection. The company's machine learning-driven analysis identifies disease-causing genetic variants from sequenced samples, providing patients with a clinical genetic report and a complimentary genetic counseling session to discuss the results. By leveraging this approach, Probably Genetic aims to improve accessibility to genetic testing, reduce diagnostic delays, and connect patients with the resources they need for informed decision-making and care management.
Target Audience
The primary target audience includes individuals experiencing symptoms of undiagnosed rare diseases, as well as their families and caregivers, who are seeking to obtain a genetic diagnosis and access appropriate medical care.
Features
- Online symptom assessment to determine eligibility for free genetic testing
- At-home saliva collection kit with prepaid return shipping
- Sequencing and machine learning-based analysis to identify disease-causing genetic variants
- Clinical genetic report summarizing test results
- Complimentary genetic counseling session with a genetic counselor
- Data platform utilized by drug developers and patient advocacy groups