
Finding patients at risk for rare disease

Rare Patient Identification Challenge
On average, it takes 7 years for a patient to receive an accurate diagnosis, and getting there involves an average of 8 physicians and 2 to 3 misdiagnoses.1

Healthcare providers are challenged to identify rare genetic conditions. With over 10,000+ distinct rare diseases, it’s unrealistic to expect healthcare providers to recognize every cluster of symptoms. The sheer number makes it challenging for patients to receive an accurate diagnosis.
In addition to healthcare providers, there are organizations actively searching for patients who meet the criteria for diagnosis, sponsored testing programs, clinical trials, and/or treatment. This challenge is like looking for a needle in a haystack. Identification tools like claims databases use structured data focused on diagnosed patient billing practices, which may miss critical information.
1 https://globalgenes.org/blog/rare-disease-impact-report-quantifies-patient-and-caregiver-challenges/
ThinkGenetic Solutions
ThinkGenetic, Inc. is a leading digital health company specializing in finding individuals at risk of rare and genetic conditions. Leveraging validated algorithms and extensive expertise in rare diseases, ThinkGenetic offers digital solutions to detect patients for evaluation, treatment, and clinical trials, while ensuring compliance with important PHI (Protected Health Information) regulations. The company serves clients in biopharma, research institutions, healthcare practice settings, and advocacy organizations.
Proprietary, validated algorithms applied to Electronic Health Records (EHR) in a regulatory-compliant manner to provide the data you need

Self-guided tool for consumers focused on underlying rare and genetic causes for health concerns to help kickstart conversations with healthcare providers

Our Unique Approach
ThinkGenetic’s expertise provides the foundation to help our clients overcome challenges in rare diseases. Our results-oriented solutions provide a unique approach for the benefit of our clients.
Specialized Focus
Dedicated to rare diseases with certified genetics expertise
Experience
Trusted industry subject matter experts providing decades of experience
Customized
Building tailored solutions in collaboration with clients and partners
Data Diversity
Special focus on incorporating data in diverse and underserved populations
Proprietary Approach
Validated algorithms powered by AI
Human Touch
Combining clinical knowledge with AI to ensure accuracy
Closing the Loop
Providing actionable next steps
Security
De-identified data “firewall” to ensure compliance with PHI
Moving science forward
Publishing findings to advance scientific research
