Shortening the Diagnostic Odyssey for Rare Diseases

As the head of clinical partnerships at technology company Mendelian, Peter Fish is on a quest to help a group that isn't as small as you might expect: people suffering from rare diseases.

"It is estimated that rare diseases affect 350 to 400 million people globally," he says. "As a group, rare diseases are actually far from rare."

A difficult diagnosis

Even being diagnosed with a rare disease is a significant challenge. "Various studies across the world have shown that rare disease diagnoses may take between 5 to 30 years, depending on the disease and health care setting," Fish says. "These patients see multiple specialists and may be misdiagnosed several times. This diagnostic odyssey is fraught with emotional turmoil and suboptimal care."

Why does it take so long? With 7,000 known rare diseases (and five new diseases added to the list weekly), it's impossible for doctors to keep up. "Another layer of complexity is added by the huge amount of variation in how these diseases present and the patient’s age, plus how the patterns and severity of symptoms may vary significantly in patients," says Fish. "Also, many of these diseases affect multiple organs, while most specialists focus on a single organ."

The road ahead

By working on computational mechanisms that shorten the diagnostic odyssey, Fish hopes to change the plight of rare disease sufferers. His work at Mendelian, which is building the largest repository of information governing the biology of rare genetic diseases, plus increased access to genetic testing and advances in IT infrastructure and computational algorithms are key to making diagnoses of rare diseases happen faster. "At Mendelian, we are working to ensure patients have a far better journey," says Fish.

SOURCE: Liane Bonin Starr 

Patience is a virtue — unless you’re diagnosed with cancer.

When Robert Rosen was diagnosed with the Polycythemia Vera (PV) in 1997, he took action. PV is a type of myeloproliferative neoplasms (MPNs), a rare group of bone marrow disorders that can lead to leukemia. At the time, there was very little research on MPNs. Rosen wanted to know why. Then he wanted to know what he could do to help. Two years later he founded the MPN Research Foundation, which funds research and raises awareness about MPNs.

Passion for organization

Rosen had already made his mark in the real estate business in Chicago. After earning a bachelor’s degree from Brown University and an MBA from Northwestern, he worked on high-profile projects like the Centex Industrial Park, developed with the influential Pritzker family.

The skills that led to his success in business also made him a powerful advocate for MPN research and patient information. “He had a real talent for organizing groups of individuals who are pursuing a similar mission,” says Dr. Ruben Mesa, an international expert on MPNs who has led more than 70 clinical trials.  

Like many people with MPNs, Rosen lived for many years with only moderate symptoms. The possibility of leading a long, fulfilling life is the silver lining of an MPN diagnosis, but it means that patients have an ongoing need for information about treatment options and symptom management.

Breakthrough collaboration

This led the MPN Research Foundation to create myMPN, a platform for patients to share information about their symptoms, blood test results, drug changes and more — both with other patients and with scientific researchers. “There was a strategic need to have a robust set of information that researchers could use about the disease and how it progresses,” says Mesa. This patient information can be leveraged by scientific investigators as they search for better treatments and eventually a cure.

“It also helps patients feel more empowered,” Mesa adds. “That was a key focus under Bob’s leadership, to make advances in patient-centered ways.” Less than two years after the 2016 launch of myMPN, Rosen’s condition converted from chronic to acute. He passed away in January 2018 at the age of 74.

“His legacy was transformational,” said Mesa. “He helped to innovate a venue for patient interaction that had not existed before. Patients weren’t driving scientific questions in a collaborative way.”

“It’s truly people like Bob who change the world around them.”