Patient-centric approach key to rare disease research: Centogene

By Jenni Spinner

- Last updated on GMT

(artisteer/iStock via Getty Images Plus)
(artisteer/iStock via Getty Images Plus)

Related tags Rare disease Genetic testing Patient centricity patient engagement Research

A leader from the genetics diagnostic solutions company explains how putting the patient first can make the difference in orphan drug development.

Patients with rare-disease diagnoses face a host of unique challenges, as do the researchers seeking treatments for their conditions. Peter Bauer, chief genomic officer, with Centogene, explains how striving to incorporate the patient perspective and voice can lead to better outcomes in rare and orphan disease research.

OSP: Could you please share the ‘elevator description’ of Centogene—who you are, what you do, key capabilities/specialties, and what sets you apart?

PB: At Centogene, we empower innovative patient-centric solutions for the global rare disease community. With unparalleled diagnostic expertise and insights from over half a million patients, we provide answers today, so that patients can have a better tomorrow.

We deliver on this commitment in several different ways – by leading scientific breakthroughs with our clinical studies and global research. By working with pharmaceutical partners to leverage our unparalleled insights into rare diseases. And ultimately, by revolutionizing genetic solutions that can change the trajectory for rare disease patients.

Simply put, we are here to eliminate diagnostic odysseys and accelerate orphan drug development by years.

OSP: Why is it important for researchers and drug developers to focus on rare diseases, rather than just on conditions with more common diagnoses?

PB: I really think that there is still this misconception that rare diseases only affect a few people. That is simply not true though – there are more than 350 million rare disease patients around the world, and more people die from rare diseases than cancer.

It would be completely unacceptable to ignore the often-tragic impact that rare diseases are having on patients and their families, and it is our responsibility as a medical community to keep delivering real medical solutions. Furthermore, there is evidence that drugs developed and tested for rare diseases can also impact treatment in more common diseases and therefore increase our therapeutic repertoire in molecular medicine.

OSP: Please tell us about some of your services and resources.

Peter Bauer, chief genomic officer, Centogene

PB: One of our unique assets that we are convinced has and will continue to deliver answers and solutions for the rare disease community is our rare disease mutation database – CentoMD.  With insights from hundreds of thousands of patient samples of diverse ethnicities, we are able to deliver inarguable results – both in terms of diagnostics and orphan drug development.

Furthermore, we have been able to develop a proven biomarker development pipeline to support the development of precision medicine. As a result, millions of dollars and decades of time can be saved, and we are committed to using this to revolutionize orphan drug development with unique sanity. We believe that the future of orphan drug development is quantifiable molecular biomarkers – providing unrivaled clarity and de-risking development.

Lastly, our people and our culture allow us to deliver the most advanced and innovative results. You see, we are not just any biotech company. We care about the work we are doing and the people we work with. Our team, our patients, and our partners.

We approach things differently – pushing boundaries to achieve unparalleled excellence and life-changing discoveries. We use our failures, our successes, and our learnings to continue driving progress. We are here to improve the lives of millions. It is our DNA

OSP: What does patient-centricity mean to the Centogene team, and how do you strive to keep the patient’s voice/needs/etc. in mind?

PB: You see, as a rare disease company, we think of today, and every day, as an opportunity to help rewrite tomorrow for a patient. Through a long-awaited diagnosis, enrollment in a clinical study, or a breakthrough in treatment discovery, each and every action could be the turning point for a patient.

As can be imagined, this is not a responsibility we take lightly, and we realize that to make a true difference in the lives of patients, we must work together as a community:

  • We must work with physicians from around the world – to educate, to provide easier access, to provide answers to patients at the earliest point possible.
  • We must collaborate with partners – to combine resources, to drive new ideas, to develop never-before-seen solutions.
  • And most importantly, we must listen to patients – to hear their needs, to understand their disease, to give them a platform to tell their story.

We all fit together as a piece of a puzzle, and we have the opportunity - or perhaps better said, the responsibility - to work together to create an environment that reflects a better tomorrow. At Centogene, every time we walk through the doors of our office, we keep this in mind and constantly make sure that our actions are in check with the reason behind it all – our patients.

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