According to New Report, Today’s Diagnostic Journey Shows Progress But Is Unequally Burdensome

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According to New Report, Today’s Diagnostic Journey Shows Progress But Is Unequally Burdensome

Rare Patient Voice and MediFind Publish “The Long and Winding Road to Care”  

TOWSON, MD, February 17, 2022 – Rare Patient Voice LLC, a leading patient recruitment firm, and MediFind, an advanced digital health platform helping people facing complex health challenges find better care, faster, today published a report examining the current state of the diagnostic odyssey for patients with complex diseases during these times of global health issues. “The Long and Winding Road to Care: Today’s Journey to Diagnosis and Treatment for Patients Living with Complex Diseases, including Rare Diseases” is based on a late 2021 survey of 1,229 patients living with a wide range of complex health conditions (characterized as those that are serious, life-threatening, or rare diseases). All of the respondents are members of the Rare Patient Voice community in the United States.

The report, which can be downloaded here, reveals progress being made, but unevenly across disease types and other demographics. Key takeaways include:

  • The diagnostic journey remains burdensome, but unequally so

    • Patients with rare diseases took significantly longer to be correctly diagnosed: only 23% were diagnosed within three months, while it took five or more years for 28% of patients. For patients with cancer, two-thirds were diagnosed within three months, and only 1% took five or more years to be properly diagnosed.

    • 65% of rare disease patients report being misdiagnosed before receiving the correct diagnosis, while 37% of patients with cancer report having been misdiagnosed first.

    • Females report being misdiagnosed at a higher rate than males (51% vs. 37% respectively)

    • On average, patients report seeing four different doctors before getting correctly diagnosed. This number jumps to almost six different doctors when the patient has a rare disease.

  • Genetic testing is shortening time-to-diagnosis, but progress is uneven

    • Genetic testing has become particularly prevalent for patients with cancer as 75% of patients diagnosed with cancer over the last two years have been genetically tested.

    • Surprisingly, genetic testing is not a mainstay of rare disease diagnosis, with only 20% of patients diagnosed with a rare disease in the past two years reporting that they received genetic testing.

  • Clinical expertise drives specialist choice

    • 55% of rare disease patients say clinical expertise is the most important factor when choosing their doctor, as opposed to 47% of complex disease patients.

    • 88% of primary care doctors say medical skill is of great importance when selecting to whom they will refer patients, although how doctors practically evaluate such skill remains unclear.

    • Factors such as location, quality of online ratings and reviews, and even health system reputation trail markedly in terms of importance when choosing a provider.

“The report illustrates how the viewpoints of patients are needed by those working to improve the healthcare system, so patients and their families can be served equitably,” said Rare Patient Voice President Wes Michael. “At Rare Patient Voice, we can forge the connections that make sharing the patient voice possible.”

“The fact that clinical expertise is of utmost importance to both patients and physicians in terms of specialist choice may not be surprising,” said MediFind co-founder and CMO Sarah Larcker. “What is surprising is that there are very few resources that help people make informed, data-driven decisions about their providers. MediFind provides objective assessments of physician expertise in hopes of helping everyone, especially those facing rare diseases, find better care, faster.”

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About Rare Patient Voice

Rare Patient Voice, LLC provides patients and caregivers an opportunity to participate in all types of research including market research, health economics outcomes and real-world evidence, user experience/human factors studies, and clinical trials. RPV has over 100,000 patients and caregivers across more than 700 diseases, both rare and non-rare. Visit us at

About MediFind

MediFind uses advanced analytics to connect patients facing complicated, life-threatening, and rare diseases with leading health expertise. By democratizing access to essential information, the team has already helped over 1 million patients find the best doctors based on real-world medical expertise, not marketing effort. Visit us at


Laura Mullen, Director of Marketing and Communications