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Accelerating rare disease diagnosis and treatment access: from diagnostic insight to physician engagement

16 October, 2025

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How digital HCP engagement can improve rare disease patients’ access to targeted therapies


Tackling the challenges of rare disease diagnosis and treatment

While each rare disease may impact only a limited population, the collective number of rare disease patients is significant - nearly 1 in 10 Americans, or about 30 million people1.

Finding and diagnosing a patient with a rare disease is challenging, often taking years. On average, it takes 4-5 years to identify a patient with a rare disease, during which they suffer without answers, undergoing ineffective treatments and facing emotional and financial strain2. Despite the existence of targeted therapies that can significantly improve outcomes and enhance quality of life, many patients remain undiagnosed and untreated simply because they were never identified in time. One of the keys to solving this problem lies in educating physicians at the right time - ensuring they recognize the need for the right diagnostic tests and take swift action when a patient is identified.

The challenge of finding rare disease patients

Pharma companies developing precision medicine therapies for rare diseases face a key challenge: identifying eligible patients. This is essential both for clinical trial recruitment and for ensuring patients receive the optimal treatment at the right time. Traditional patient-finding strategies, such as partnering with centers of excellence and running awareness campaigns, require significant time and resources, often delaying patient access to appropriate therapies.

Finding patients with DXRX Signal

To address this challenge, Diaceutics developed DXRX Signal, a Solution designed to help pharma companies identify physicians treating potentially eligible patients. Using a multi-modal AI-driven data approach, DXRX Signal provides real-time alerts - flagging when a physician has a patient who has tested positive for a relevant biomarker. This timely notification enables immediate deployment of highly-targeted digital campaigns to engage physicians within the critical treatment decision window, connecting eligible patients with the optimal therapies for their disease.

Engage relevant physicians with timely, expertly curated educational content to support their treatment decisions

Beyond patient identification, engaging physicians with the right information at the right time is crucial to improving patient outcomes. DXRX Physician Engage is a digital omnichannel Engagement Solution designed by Diaceutics, helping pharma companies reach physicians with timely, relevant and highly-targeted educational content.

By utilizing real-time data-driven automated deployment, DXRX Physician Engage allows treating physicians to have access to and act upon relevant information during the treatment decision window. Immediately following a DXRX Signal alert that has identified a physician with a potentially eligible patient, DXRX Physician Engage delivers timely, personalized email content to educate that physician on relevant clinical trials, available targeted therapies, and best practices for treatment decisions.

This approach ensures that physicians are well-informed and empowered to take immediate action, potentially reducing diagnostic delays and ensuring patients receive optimal care. By streamlining physician engagement, DXRX Physician Engage bridges the gap between rare disease diagnosis and treatment access, ultimately improving patient outcomes.

Utilize both digital and peer-to-peer led communications to engage relevant physicians with a timely educational message to drive your treatment adoption and testing rates: 

Even the most advanced therapies can stall when physicians lack confidence in interpreting diagnostics or navigating unfamiliar treatment pathways. Expert Exchange addresses this challenge by connecting treating physicians directly with diagnostic experts and key opinion leaders through timely, peer-to-peer education. Delivered within 48 hours of a patient-triggering event, this trusted, non-promotional format ensures physicians receive the clinical context they need - exactly when they need it. By bridging the gap between diagnostic insight and therapeutic action, Expert Exchange helps eliminate hesitation, accelerate adoption of targeted therapies, and ensure no eligible patient is left behind.

Understand the diagnostic landscape to identify therapy-eligible patients and engage physicians when it matters most

Diaceutics’ 6A™ Precision Medicine Strategic Landscape combines extensive real-world laboratory data with deep market insights to support the successful adoption of targeted therapies. This comprehensive analysis enables pharma teams to identify critical gaps, opportunities, and barriers to therapy uptake. By delivering actionable intelligence, the 6A™ Landscape empowers faster, evidence-based decision-making—ensuring strategies are optimized for early patient identification and improved access to treatment.

Our team will be at the NORD Breakthrough Summit from October 19–21st in Washington, DC. Book a meeting with one of our solution experts to discover how Diaceutics can help you drive adoption of rare disease targeted therapies:

Schedule a meeting here: https://lnkd.in/efUYn3G6

Download our flyer to discover more about our Rare Disease capabilities here: https://lnkd.in/e--KMea8



References:

  • National Center for Advancing Translational Sciences https://rarediseases.info.nih.gov/about
  • Marwaha, S., Knowles, J.W. & Ashley, E.A. A guide for the diagnosis of rare and undiagnosed disease: beyond the exome. Genome Med 14, 23 (2022). https://doi.org/10.1186/s13073-022-01026-w

About Diaceutics

At Diaceutics we believe that every patient should get the precision medicine they deserve. We are a data analytics and end-to-end services provider enabled by DXRX - the world’s first Network solution for the development and commercialization of precision medicine diagnostics. 

Diaceutics has worked on every precision medicine brought to market and provides services to 36 of the world’s leading pharmaceutical companies. We have built the world’s largest repository of diagnostic testing data with a growing network of 2500 labs in 51 countries.

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Caroline Forde
Robyn Fisher
 
Kieran Breheny