Accurate Diagnosis of Rare Diseases Remains Difficult Despite Strong Physician Interest

February 20, 2014

Research published in The Journal of Rare Disorders highlights the need for improved physician education and referral programs.

Patients living with rare diseases visit an average of 7.3 physicians before receiving an accurate diagnosis, according to a recent survey of patients, family members, physicians and allied health care professionals (HCPs). The survey results, published in the current issue of The Journal of Rare Disorders (JRD), also reveal a significant level of physician interest in helping patients with rare diseases, and highlight the need for additional physician education and referral programs in rare diseases.

The survey, conducted on behalf of Global Genes and its RARE Corporate Alliance, reflects a growing appreciation among primary care physicians (PCPs) and specialists of the societal impact of rare diseases, while also underscoring the burden shouldered by patients and family members. Key findings include:

  • Most physicians (60% of PCPs, 80% of specialists) said they welcome the challenge that rare diseases bring and want to be part of finding a diagnosis.
  • However, 40% of PCPs and 24% of specialists indicated that they lack sufficient time to do a workup for a rare disease even when they suspect the patient may have one.
  • For patients, the mean length of time from symptom onset to accurate diagnosis was 4.8 years (range: 0-20 years).
  • Forty-four percent of patients agreed with the statement, “Because of a slow diagnosis, treatment was delayed and the impact on my condition has been negative.”“It’s encouraging to see the growing investment in rare disease research across industry, academia and government,” stated Patti A. Engel, RN, BSN, the lead author of the report and CEO of Engage Health, Inc. “The survey results show that innovative therapies are only part of the solution. There is an urgent need to bridge the knowledge gap by educating and connecting patients, families, physicians and specialists.”“While physicians and patients agree on the need for expert consultation and rapid referral, physicians may not know where to turn when referring patients with rare disorders,” commented Nicole Boice, founder and CEO of Global Genes and co-author of the JRD publication. “We hope these survey results spark the development of robust physician education and referral programs in rare diseases.”

Global Genes also urges families to educate themselves and their doctors about genetic testing technologies that may facilitate an accurate diagnosis and potentially lead to effective and appropriate treatment. The organization recently launched the Undiagnosed Patient Program to improve access to genetic testing for undiagnosed patients. This program is one of many initiatives planned by Global Genes with a focus on identifying patients, supporting diagnosis and helping provide hope.

About the Survey

The survey was administered using a standardized questionnaire and required special security measures to ensure patient confidentiality. The survey was conducted over a period of 12 months and closed in August of 2013.

Of the survey participants, 805 patients, parents, and spouses and 367 HCPs provided evaluable data. Data were provided for 920 patients, including responses from several parents who reported having more than one child with a rare disease. The HCPs included 340 physicians, 10 nurses and 3 genetic counselors. The patients represented 26 countries and the HCPs represented 13 countries; most respondents were from the United States.

Physicians: Selected Findings

Most HCP respondents reported that they currently saw at least one patient with a rare disease, but specialists were more likely than PCPs to see a larger volume of patients: the average specialist saw 201.4 patients who had been diagnosed with a rare disease, compared to 12.7 patients seen by the average PCP. Nearly two-thirds (65%) of PCPs were more likely to refer a patient to a specialist to obtain a diagnosis, whereas almost half of the specialists (48%) said they were more likely to consult the literature to aid in the diagnosis. Approximately one-quarter of physicians in both groups (25% of specialists, 23% of PCPs) were likely to consult someone they considered a “disease expert” to help them make the diagnosis.

Additionally, PCP respondents were twice as likely as specialists to express reluctance about involving themselves in diagnosing a rare disease. Nineteen percent of PCPs agreed or strongly agreed with the statement, “I can’t get involved with the diagnosis of a rare disease; there are just too many of them for me to be aware of.” By contrast, only 9% of specialists agreed or strongly agreed with the statement.

Lack of experience with patients with rare diseases also affected PCPs’ willingness to involve themselves in diagnosis, as well as their inclination to refer rare disease patients to qualified specialists. Seventy-nine percent of PCPs, compared to 44% of specialists, either agreed or strongly agreed with the statement, “Because certain other specialists/experts have more experience, I prefer to refer suspected rare disease patients.”

Physicians in both groups reported that their level of knowledge of rare diseases increased over time, further underscoring the importance of physician education: while only 19% of PCPs assessed their knowledge as excellent or good at the time of diagnosis, 59% said their current level of knowledge was excellent or good; among specialists, the corresponding percentages were 59% and 77%.

While both groups of physicians reported undertaking activities to augment their knowledge of rare diseases (mean of 3.6 activities per specialist, vs. 2.8 activities per PCP), specialists were

more likely than PCPs to attend a conference or seminar (13% vs. 5%) or contact the National Institutes of Health (NIH; 10% vs. 7%) to obtain information. Perhaps most tellingly, 57% of PCPs rated their training in rare diseases as neutral, ineffective, or very ineffective, compared with 40% of specialists.

Patients, Parents, and Spouses: Selected Findings

Patients’ satisfaction with their physicians appeared to be based on physician willingness to facilitate diagnosis of the rare disease. Nearly half of the patients were “very dissatisfied” or “dissatisfied” with the willingness of the first physician seen at the onset of symptoms to become involved in various aspects of rare disease diagnosis, such as consulting local, regional, or national experts; researching different diseases; or investigating the cause of symptoms. However, patients were much less likely to be “very dissatisfied” or “dissatisfied” with the physician who made the diagnosis.

Similarly, patients were twice as likely to ascribe “no training in rare diseases” or “small amount of training in rare diseases” to the physicians they had seen at symptom onset (37%) compared to the physicians who made the diagnosis (16%). However, patients were realistic about the role of PCPs and specialists in rare disease diagnosis, with at least 95% noting that they “agree” or “strongly agree” that physicians should seek help and refer a patient quickly to obtain a diagnosis, and 97% expressing the belief that specialists should be educated about the existence of rare diseases and be trained not only to identify possible symptoms, but also to seek the help of others and refer patients if necessary to secure a diagnosis. Patients’ expectations in this area were only slightly lower for PCPs than for specialists.

About Global Genes: Allies in Rare Disease

Global Genes is a leading rare disease patient advocacy organization. The foundation’s mission is to eliminate the challenges of rare diseases by unifying the global rare disease community, building awareness, providing critical connections, creating resources and collaborations with rare disease stakeholders. Recognized worldwide by the Blue Denim Genes RibbonTM, Global Genes unites experts, advocates and patients of all ages to stand together in hope for treatments and cures for the estimated 7,000 rare diseases that impact approximately 30 million Americans and over 350 million people worldwide. For more information, visit

About Engage Health

This study was conducted as a pro-bono project by Engage Health, Inc. a market development firm serving the pharmaceutical, biotechnology and medical device sectors. The company provides market research and consulting services for clients in the specialty medical space. For more information, visit

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