Osaka University group engages in deliberations with patients, researchers, and former policymakers for setting high-priority research topics in the rare disease field

A research group led by Assistant Professors Atsushi Kogetsu and Moeko Isono, Professor Kazuto Kato, and others in the Department of Biomedical Ethics and Public Policy at Osaka University Graduate School of Medicine, together with patients and former policymakers associated with the Commons Project, has clarified 'the overall difficulties faced by rare disease patients' as well as 'high-priority research topics in the rare disease field.' The article was published in Research Involvement and Engagement.

In recent years, stakeholder involvement in policymaking has attracted attention in the fields of medicine and healthcare. However, the best way to effectively translate patients' perspectives into the policy formation process is still unclear.

In the area of rare diseases, some individual patient advocate groups have only been able to communicate their opinions via petitions. The challenge is to consider patients' views in a more objective manner and translate them into actual policies regarding rare diseases. The views of patients with diseases for which no patient groups exist or for which they are inactive were considered.

The research group launched the "Commons Project." This project is intended to offer a forum where people in various positions, including patients and family members, can continuously exchange views and engage in the generation of evidence that can be referred to when formulating a policy. A total of 43 people—21 patients with 10 rare diseases and family members, 17 researchers, and 5 former policymakers—engaged in consecutive deliberations through 25 workshops.

As a result, it was established that patients with rare diseases and their families face a wide range of difficulties, not just those related to medical aspects (e.g., diagnosis and treatment), but also impediments to daily life, psychological burdens, limited opportunities for interaction with others, and the lack of information, recognition, and understanding. Discussions also included research topics that were identified as high-priority issues to be addressed when facing such difficulties. In this process, all participants developed and selected "criteria for priority setting = decision criteria" and set priorities accordingly.

The high-priority research topics are as follows: those related to lifestyle aspects, such as 'impediments to daily life,' 'financial burden,' and 'concern about working and schooling'; those pertaining to psychological aspects, such as 'anxiety,' 'pessimism,' and 'mental state specific to genetic diseases'; and those aimed at reducing or solving the 'burden of hospital visits (time consuming and physically demanding).' Through looking at the issues from various points of view, the group also clarified high-priority research topics by using "criteria valued more by patients and family members than by researchers and former policymakers" and "criteria with specific perspectives."

Kogetsu explained, "We were able to create new knowledge by bringing together people from different positions—patients, family members, researchers, and former policymakers—to interact and engage in consecutive deliberations. Meanwhile, we learned from each other, built a relationship of trust, so that the 'Commons' became an irreplaceable forum for the participants, resulting in novel findings. We hope that as was in this project, the participation of and co-creation by stakeholders throughout the entire research process, from research designing to publishing papers, will practically spread to various fields and research projects in the future."