Linking Rare Disease Patients to Targeted Therapies using patient identification

Data & AI Rare / Genetic Disease Pre-launch Launch
Scott Phillips
VP of Real World Data
Real World Data
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Rare diseases are often thought of as affecting only a small number of people. While a particular disease may generally affect a small population, nearly 1 in 10 Americans (around 30 million people)¹ have a rare disease. In this article, we explore what rare diseases are and the challenges they present to those fighting them. We also discuss how Diaceutics helps overcome them through earlier patient identification.

Many rare diseases get worse over time and can shorten lives, placing a significant burden on patients and their families. For many, the search for a diagnosis is long and difficult, often bringing emotional, physical and financial challenges. On average, it takes 4–5 years to diagnose a rare disease. Even then, treatment options are limited, with approved therapies available for only 5% of rare diseases3. That's why continued investment in patient identification is essential to help more patients get the care they need.

 Many pharmaceutical companies are developing precision medicine therapies for rare diseases. However, finding the right patients remains a major challenge. Patients are needed for clinical trials and again once treatments are approved. The traditional approaches to patient identification can also be time-consuming and costly. This can lead to a delay in appropriate patients receiving treatment.

 To help overcome this challenge, Diaceutics developed DXRX Signal. It helps Pharmaceutical companies identify physicians treating potentially eligible patients. When a biomarker test result identifies a patient who may benefit from a specific therapy an alert is issued. Pharma teams can then engage physicians while treatment is ongoing. This helps earlier patient identification and more eligible patients access the right therapy.  

How does it work?

DXRX Signal identifies genetic markers from patient test results. It uses data from more than 505 US labs and our Diagnostic Deductive Pathways (DDPs®) to analyse a wide range of conditions.

DXRX Signal helps identify hard-to-find patients who may be eligible for clinical trials. In one client project, it was used to find patients with a rare cancer gene fusion across different tumour types. Starting with a DXRX Lab Segmentation deliverable, DXRX Signal used the data to issue an alert. This enabled the client's team to promptly engage physicians and speed up clinical trial enrolment.

  

Expansion of our lab offering 

Last year, we expanded our lab network to provide access to more rare disease data. This helps speed up the development, commercialization and adoption of targeted therapies.

In summation, rare diseases, although less prevalent than other diseases, should not be ignored by pharma. Diaceutics offer a solution to some of the significant challenges faced in rare disease drug development. DXRX Signal helps find eligible patients faster, improving access to the right test and treatment. Rare disease patients are deserving of the same attention afforded to more profitable therapies.

Contact us today to see how Diaceutics' patient identification helps rare disease patients.

  

FAQs

How common are rare diseases?
Despite the name, rare diseases are surprisingly widespread — nearly 1 in 10 Americans (around 30 million people) live with one. Individually a disease may affect a small population, but collectively the burden is enormous, which is why earlier patient identification matters so much.
Why is diagnosing a rare disease so difficult?
The path to diagnosis is often long and hard, taking an average of 4–5 years, and frequently bringing emotional, physical, and financial strain. Even after diagnosis, options are limited — approved therapies exist for just 5% of rare diseases — making continued investment in patient identification essential.
What is Signal?
Signal is a Diaceutics solution that helps pharmaceutical companies identify physicians treating potentially eligible patients. When a biomarker test result flags a patient who may benefit from a specific therapy, an alert is issued — enabling pharma teams to engage physicians while treatment is ongoing and accelerate patient identification.
How does Signal work?
It identifies genetic markers from patient test results, drawing on data from more than 505 US labs alongside Diaceutics' Diagnostic Deductive Pathways (DDPs®) to analyse a wide range of conditions. This enables hard-to-find, potentially eligible patients to be surfaced faster than traditional approaches allow.
Can Signal support clinical trial recruitment?
Yes. In one client project, Signal was used to find patients with a rare cancer gene fusion across different tumour types. Starting from a DXRX Lab Segmentation deliverable, it issued an alert that allowed the client's team to promptly engage physicians and speed up clinical trial enrolment.
Why should pharma prioritise rare disease patient identification?
Traditional approaches to finding rare disease patients are time-consuming and costly, often delaying access to treatment. DXRX Signal helps find eligible patients faster and improves access to the right test and therapy — ensuring rare disease patients receive the same attention afforded to more profitable therapies.
About Diaceutics

We’ve been with pharma and biotech companies for over 20 years, helping them to make more informed diagnostic and therapeutic decisions based on real-world data. Our platforms and tools provide global insight from a network of laboratories across 50+ countries.


This unparalleled visibility into real-world testing helps support therapy programs across oncology, cardiology, neurology, autoimmune, rare diseases, and many more.

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Written By Scott Phillips
As VP of Real World Data, Scott leads the incubation and development of Diaceutics' Real World Data business unit, driving channel partnerships, new product offerings, and the integration of advanced data and AI capabilities into our platform. A HealthTech executive specialising in real-world data, AI strategy, and commercial growth, he brings deep expertise in scaling complex data products from inception to market leadership. His career has been shaped by senior roles at Komodo Health and COTA Healthcare, alongside strategic consulting at L.E.K. Consulting. An MBA graduate of Harvard Business School, his leadership accelerates commercial growth and strengthens our real-world evidence offering for pharma.
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Data & AI Rare / Genetic Disease Pre-launch Launch
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