Survey on the Challenges Faced by Healthcare Professionals in Rare Diseases

EY Strategy and Consulting Co., Ltd. (Chiyoda-ku, Tokyo; President and CEO, Akira Kondo; EYSC) supported the planning and operation of a "Survey on the Challenges Faced by Healthcare Professionals in Rare Diseases," in collaboration with Initiative on Rare and Undiagnosed Diseases (IRUD), Rare Disease Consortium Japan (RDCJ), and Japan Pharmaceutical Manufacturers Association (JPMA). EY is pleased to announce that a report of the survey results is now available.

This survey consists of both quantitative web survey (a) and qualitative interview (b) , aiming to identify challenges in five areas related to rare diseases from the perspective of healthcare professionals: 1. Basic and applied research, 2. Development and clinical trials, 3. Diagnosis, 4. Treatment and prognosis management, and 5. Disease awareness. 

 It also compiles expectations towards and potential solutions for these challenges from various stakeholders (pharmaceutical industry, academic societies, patient advocacy groups, and government) (Figure 1).

Survey on the Challenges Faced by Healthcare Professionals in Rare Diseases:
https://www.jpma.or.jp/english/reports/industrial_policy_committee/survey_healthcare.html
 

fig. 1 Key challenges faced by medical professionals and the direction of measures

Taichi Kido, EY-Parthenon Partner, EYSC comments:

"This survey of healthcare professionals involved in rare diseases highlights several challenges, such as building research and development environments, increasing awareness and understanding, and personnel training. These are in addition to a need for funding for basic and applied research, and establishing early diagnosis systems in clinical practice. It also identifies the lack of treatment and diagnostic options in Japan compared to other countries. To meet the 'Expectations of Stakeholders' outlined in this survey, it is vital that all stakeholders in the medical system act collectively not only to envision ideal scenarios but also to make progress on concrete actions and collaborations. At EYSC, we hope that this survey will serve as a catalyst for those initiatives. We are committed to building a better working world for everyone involved in rare diseases."

1. Survey overview

(a) Quantitative web survey
Survey Period: July 25, 2024 (Thursday) to August 23, 2024 (Friday)
Valid Responses: 327 individuals
Participants: Healthcare professionals affiliated with the IRUD Diagnostic Committee and/or proposed by the committee; healthcare professionals participating in the RDCJ

(b) Qualitative interview
Survey Period: September 2, 2024 (Monday) to September 13, 2024 (Friday)
Valid Responses: 15 individuals
Interviewees: Participants in the quantitative survey who agreed to provide further information

2. What are Rare Diseases?

Rare diseases are separate medical conditions which affect an extremely limited number of patients. However, it is estimated that there are over 7,000 rare diseases worldwide, affecting a total of 300 million people. Definitions vary by country but, according to the "Designation System of Orphan Drugs/ Medical Devices," based on the “Act on Securing Quality, Efficacy and Safety of Products Including Pharmaceuticals and Medical Devices” in Japan, the designation criteria include "having fewer than 50,000 patients in the country, high medical needs and high potential for development." In the United States, the threshold is fewer than 200,000 patients whereas in Europe, the ratio is fewer than 5 patients per 10,000 population. In addition to affecting a small number of patients, these diseases are often severe and difficult to treat due to unknown mechanisms of onset, resulting in limited effective treatments.

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