Last year, Takeda, Eurordis, and Microsoft announced new collaborative efforts in the realm of rare disease. Specifically they were focused on the diagnostic period of rare conditions. However, up until now this initiative has been all talk and no action. Finally, these organizations have released an actionable recommendation report which provides concrete steps for numerous actors in the rare community. The ultimate goal is to improve our utilization of technology in order to advance rare disease research and outcomes.
Additionally, they have developed and will soon initiate three innovative digital health pilot programs.
The Problem With Diagnosis
There is something comforting about knowing what is wrong, even when it’s less than favorable news. Living years of your life without answers can be extremely disheartening and difficult to handle. Additionally, it obviously can have severe affects on patients health. For rare conditions that have effective treatments, this outcome is even more depressing.
This issue concerning rare diagnostics will affect far more individuals in the world than many people realize. The word “rare” can be very deceiving. One out of every 10 individuals will have a rare disease in their lifetime. Half of these individuals will be children. Three out of every 10 of these children will not live to be five years old.
Approximately 40% of people learn that their first diagnosis is incorrect. The average time till proper diagnosis is five years. Misdiagnosis frequently impedes treatment and can cost lives.
This is dangerous and this is unacceptable.
The Report
This report created by Takeda, Eurordis, and Microsoft, which focuses on technological innovations, is ultimately aimed at improving rare disease patient outcomes. These companies hope to improve efficiency in terms of diagnosis and treatment, reduce patient costs, and increase patient access to care.
There are three main goals of this report:
- Empowering rare disease patients and their families/caregivers
- Equipping frontline providers
- Reimagining genetic consultations
Pilot Programs
The three pilot programs they created include-
- Recognizing patterns of patient symptoms with machine algorithms. This pilot will take place in Spain at four different medical centers. Specifically, it aims to assist doctors in the diagnosis of conditions they may have never before seen in their clinic.
- Smart triage system. This system will allow genetic counselors to assess and counsel patients remotely. This pilot will take place in Washington D.C.
- Giving patients more control of their own data. This pilot program will create a global patient registry specifically containing rare disease patient data. Rare patients will be able to access and share their own data as they please. This pilot will be based in Switzerland.
You can read more about this collaboration, action report, and pilot programs here.
