The Evolution of Precision Medicine in Rare Disease Research

What is Precision Medicine?

In essence, precision medicine refers to the idea that in order to establish the best treatment plan for a patient, we must look at them as an individual. It is not enough to know what disease someone has, because even the same disease can present itself differently among different people. As medicine is becoming more advanced, we are able to more precisely analyze the uniqueness of patients and doing so could significantly improve their outcomes.

Precision Medicine and Rare Disease

Precision medicine has proved extremely beneficial for many rare disease patient populations in recent years. However, it unfortunately presents extra challenges as well because each rare disease is already so incredibly unique, and well, rare. That means how a rare disease affects one singular patient is an exceedingly individualized experience.

As we are constantly learning more about these experiences, clinicians are faced with the difficult challenge of keeping up with the latest findings. It’s truly a near impossible task. One study estimated that in order to be up to date with all of the latest research, a physician would have to read for 29 hours every day…which is more hours than is in a day in the first place.

So how do we ensure that physicians are learning the most critical information for their particular practice? One important player in this consideration is the medical science liaison (MSL) who works to inform experts on the information that is essential to their own specialization.

An evaluation published on CheckOrphan.org also outlines three ways to ensure precision medicine continues to develop in the most efficacious way. It all revolves around the cloud.

The Cloud

What is the cloud? In essence, the cloud is a way to share data among experts in the medical community quickly and efficiently via the internet. It’s a way to ensure we are using technology in the most advantageous way. The aforementioned article discusses three ways the cloud is beneficial for rare disease research.

First, it enables bidirectional information sharing. This means it helps accelerate communication between scientists, life science companies, oncology care teams, and others involved in the research process. This is especially valuable because these vital communications must occur between people located all over the world and face to face conversations are not always possible. Additionally, it can help strengthen communication between provider teams, increasing education for the broader care team as a whole.

Second, it can help facilitate both faster and more dynamic data analysis. Technology is able to analyze clinical trial results, patient records, and scientific literature faster than any human feasibly could. This allows researchers to uncover new potential treatments for individual patients at a quicker pace.

Third, it helps us to gain a deeper insight. Specifically, this refers to the ability to gain deeper insight outside of clinical trials. Clinical trials are great and important and necessary however, they have a downfall in terms of timing. Trials often take years to execute and therefore it takes years to make progress. Precision medicine encourages us to look at the other ways we can obtain patient data faster. Utilizing technology to share information and findings is a great way to achieve this.

You can read more about this evaluation of precision medicine and its importance in rare disease research here.