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

27 February, 2025

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.

 

Enhancing physician engagement with DXRX Physician Engage

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.

Advancing rare disease treatment

Despite their lower prevalence, rare diseases can significantly affect patients’ quality of life and overall outcome, and should be considered of high priority. Patients with rare diseases cannot afford to be overlooked, and pharma companies need efficient tools to accelerate diagnosis and treatment access. DXRX Physician Engage offers a proven, real-time digital Engagement Solution to the challenge of rare diseases - ensuring patients receive the right test and the right treatment when they need it most.


Contact us today to discover more about how Diaceutics’ innovative solutions improve patient outcomes through data-driven physician engagement.


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