Improving Diagnostic Techniques for Rare Disease Patients

The diagnostic journey for rare disease patients can be long and frustrating. In fact, 28% of rare disease patients spent a minimum of seven years waiting for their diagnosis, and 38% received at least one misdiagnosis on the way. This is partly due to something called “Occam’s razor,” which tells doctors to look for the common conditions before jumping to the rare ones. For many people, this is the right strategy. The issue arises when one is actually impacted by a rare disease. Considering that there are more than 7,000 rare diseases in the world, there are more affected individuals than one would assume, leaving many people searching for the proper diagnosis and treatment. In fact, more than 300 million people worldwide have a rare condition. Now, an article from PMLive focuses on how to improve the diagnostic process for rare disease patients.

Rare Diseases and Diagnosis

Dr. Theodore Woodward, the Chair of Medicine at the University of Maryland School of Medicine until 1981, coined the phrase, “When you hear hoofbeats, think horses, not zebras,” in regards to diagnosing patients. The sentiment is to look for the most likely conditions before turning to rare ones. He believed that the diagnosis involving the fewest assumptions was most commonly the correct one.

While this is the truth in many cases, it cannot be used in all of them. This is how rare disease patients go for so long without a diagnosis or live with an incorrect one. Because so many rare diseases are progressive or chronic, early diagnosis and treatment are integral. It’s important to administer therapy before damage is irreversible. So what do we do to fix this problem?

Addressing the Problem

Healthcare professionals need new tools and techniques to better diagnose patients, especially those living with a rare disease. In some cases, simple tests, whether they are old or just recently developed, should be used to rule out or confirm a rare disease diagnosis. This way, the diagnostic process can remain efficient while also taking rare conditions into consideration.

Another simple, easy-to-follow tool is a ‘cheat sheet.’ These one-page documents will provide information and provisions on when to consider additional testing for rare diseases. Doctors will be more likely to consider a rare disease with these sheets, which will hopefully allow for more patients to receive the correct diagnosis.

Electronic methods should also be used when it comes to a proper diagnosis. By flagging certain test results within patients’ medical records, doctors will be able to highlight results that suggest a rare disease diagnosis. Computer algorithms can do this automatically, meaning it does not hinder the efficiency of diagnosis at all.

These are just a few of the methods that can be implemented to improve the diagnostic process. More must be done to truly fix the problem, and a broader approach must be taken. Multidisciplinary collaboration, including specialists, should be used. In fact, healthcare professionals should be willing and ready to work with experts who specialize in a certain rare disease if it is suspected. They can provide insight and aid in the entire diagnostic process.

Looking Forward

More learning and collaboration should continue to take place even after the correct diagnosis has been given. A healthcare professional will develop a communicative relationship with the patient, allowing them to learn more about rare diseases and how to diagnose and treat them. This way, doctors will be better able to help patients. Additionally, a continued relationship should exist with specialists. The goal is constant communication, collaboration, and education. This way, more patients will be given the correct diagnosis the first time.

Find the source article here.

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