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White paper: Rare diseases

White paper

Rare disease diagnostics: Advancing orphan drug development through precision testing

Explore the challenges facing orphan drug development, from understanding disease progression to identifying and validating biomarkers, and the importance of early diagnosis.


This white paper is free and can be downloaded and read at your convenience.

close up shot of scientist hands pipetting sample into dish for DNA testing in laboratory

Unlocking the potential of precision testing in rare diseases

Our white paper, "Rare disease diagnostics: Advancing orphan drug development through precision testing," offers an analysis of the current state of rare disease diagnostics and its pivotal role in the development of orphan drugs. With a focus on genetic testing and the integration of multi-omics data, we address the complexities and necessary advancements in the diagnosis of rare conditions.

In a domain where each patient journey is unique and the rarity of conditions poses significant challenges, our white paper underscores the importance of precise, comprehensive diagnostic testing. We explore the evolution of genetic testing, the shift towards a multi-omics approach, and how these advancements are not just enhancing our understanding of rare diseases but also shaping the future of treatment.

 Discover how integrated diagnostic data is critical, offering in-depth insights that can streamline drug development processes, improve patient outcomes, and reduce the time and cost associated with bringing orphan drugs to the market. Learn about the Quest Diagnostics approach, leveraging cutting-edge technology and extensive expertise to address the complex needs of rare disease diagnostics and treatment.

We invite you to download "Rare disease diagnostics: Advancing orphan drug development through precision testing" and explore how precision testing can revolutionize your approach to rare disease diagnosis and drug development.

Let's discuss collaborative opportunities to bring new treatments to patients faster. Let's talk!


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