About
Mendelian is a healthcare AI company on a mission to end the diagnostic odyssey faced by rare disease patients. Their flagship product, MendelScan, integrates with healthcare provider systems to proactively surface patients whose symptom profiles match known rare disease patterns — enabling earlier diagnosis and timely referrals for genomic testing. Rare diseases affect 1 in 17 people, yet patients wait an average of over four years, visit five doctors, and endure three misdiagnoses before receiving a correct diagnosis. MendelScan addresses this by applying machine learning to electronic health records, flagging at-risk patients at the point of primary care before symptoms escalate. Case studies demonstrate significant impact: for Behçet's disease, MendelScan identified diagnoses four years earlier and reduced diagnostic odyssey costs by 76%. For Ehlers-Danlos syndrome, it achieved three-year earlier identification and a 35% cost reduction per patient. The platform also helps clinicians determine which patients qualify for genomic testing and what phenotypic data to capture for effective specialist referrals. Mendelian has partnered with NHS programmes and won prestigious awards including the NHS AI in Health and Care Award 2023 and the MIT Solve Horizon Prize 2023. It is aligned with the NHS Long Term Plan and the UK Strategy for Rare Diseases, making it a trusted solution for health systems seeking to reduce the £3.4 billion annual cost burden of undiagnosed rare diseases.
Key Features
- Proactive Rare Disease Case Finding: MendelScan automatically scans electronic health records to surface patients whose symptom patterns match known rare disease profiles before a diagnosis is made.
- Earlier Diagnosis & Reduced Misdiagnoses: Machine learning models identify at-risk patients years earlier than traditional clinical pathways, reducing unnecessary referrals and misdiagnoses.
- Genomic Testing Guidance: Helps clinicians identify which patients meet criteria for genomic testing and captures the required phenotypic data for effective specialist referrals.
- Health Economics Reporting: Quantifies the cost savings and diagnostic efficiency gains for healthcare providers, including reductions in referral costs and diagnostic odyssey expenditure.
- NHS & Rare Disease Strategy Alignment: Designed to integrate within NHS Long Term Plan workflows and European rare disease strategies, with validated partnerships across multiple NHS trusts.
Use Cases
- NHS primary care providers using MendelScan to proactively screen their patient populations for undiagnosed rare diseases and trigger timely specialist referrals.
- Health economics teams quantifying the cost savings and efficiency gains from earlier rare disease identification versus traditional diagnostic pathways.
- Genomic medicine services identifying primary care patients who meet criteria for genomic testing without waiting for symptomatic escalation.
- Hospital trusts partnering with Mendelian to retrospectively audit patient populations and identify individuals who may have been misdiagnosed or missed entirely.
- Healthcare commissioners using Mendelian's platform to align rare disease care pathways with the NHS Long Term Plan and UK Strategy for Rare Diseases.
Pros
- Clinically Validated Impact: Real-world retrospective studies demonstrate years-earlier diagnoses and significant cost reductions per patient for conditions like Behçet's disease and Ehlers-Danlos syndrome.
- Recognised by Leading Health & Innovation Bodies: Winner of the NHS AI in Health and Care Award 2023 and MIT Solve Horizon Prize 2023, lending strong credibility to the platform.
- Reduces System-Wide Costs: Addresses a documented £3.4 billion NHS cost burden by catching rare diseases early, avoiding unnecessary referrals and repeat consultations.
Cons
- Enterprise-Only, No Self-Serve Access: MendelScan is a B2B solution for healthcare providers and is not accessible to individual patients or small clinics without an enterprise agreement.
- Primarily UK/NHS Focused: Current case studies and partnerships are concentrated within the UK NHS ecosystem, which may limit immediate applicability for non-UK health systems.
- Requires EHR Integration: The platform's effectiveness depends on access to and integration with existing electronic health record systems, which may require significant IT onboarding.
Frequently Asked Questions
What is MendelScan?
MendelScan is Mendelian's AI-powered software platform that analyzes patient health records in primary care to proactively identify individuals who may have an undiagnosed rare disease, enabling earlier clinical intervention.
How does Mendelian's AI identify rare disease patients?
MendelScan applies machine learning models trained on rare disease symptom patterns to electronic health records. It flags patients whose longitudinal clinical presentations match known rare disease profiles, even when symptoms appear across different organ systems or GP visits.
What types of rare diseases can MendelScan detect?
MendelScan has been validated against multiple rare diseases including Behçet's disease, Ehlers-Danlos syndrome, Gaucher's disease type 1, paroxysmal nocturnal haemoglobinuria (PNH), neuroendocrine cancers, and rare bone disorders, among others.
Is Mendelian available outside the UK?
Mendelian is primarily deployed within the UK NHS system, but given that every EU country has a rare disease plan and the global burden of rare diseases, the company is positioned to expand. Contact Mendelian directly for international availability.
How does Mendelian support genomic testing workflows?
MendelScan helps clinicians identify patients who meet genomic testing criteria, recommends the appropriate test, and assists in capturing the phenotypic data required for an effective specialist referral — aligning with Genome UK healthcare strategy.
