The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems.

Background: Rare diseases (RD) are a diverse collection of more than 7-10,000 different disorders, most of which affect a small number of people per disease. Because of their rarity and fragmentation of patients across thousands of different disorders, the medical needs of RD patients are not well recognized or quantified in healthcare systems (HCS).

Methodology: We performed a pilot IDeaS study, where we attempted to quantify the number of RD patients and the direct medical costs of 14 representative RD within 4 different HCS databases and performed a preliminary analysis of the diagnostic journey for selected RD patients.

Can you hear us now? The impact of health-care utilization by rare disease patients in the United States.

Purpose: The vast majority of rare diseases (RDs) are complex, disabling, and life-threatening conditions with a genetic origin. RD patients face significant health challenges and limited treatments, yet the extent of their impact within health care is not well known. One direct method to gauge the disease burden of RDs is their overall cost and utilization within health-care systems.

Machine intelligence in healthcare-perspectives on trustworthiness, explainability, usability, and transparency.

Machine Intelligence (MI) is rapidly becoming an important approach across biomedical discovery, clinical research, medical diagnostics/devices, and precision medicine. Such tools can uncover new possibilities for researchers, physicians, and patients, allowing them to make more informed decisions and achieve better outcomes. When deployed in healthcare settings, these approaches have the potential to enhance efficiency and effectiveness of the health research and care ecosystem, and ultimately improve quality of patient care.

International collaborative actions and transparency to understand, diagnose, and develop therapies for rare diseases.

Rare diseases, which affect over 350 million people worldwide and frequently go undiagnosed or misdiagnosed for years, suffer from sparse and dispersed medical knowledge leading to even rarer approved and effective therapeutic options for patients. A vast, unmet need for research and investment to advance diagnostic capabilities and therapeutic development must be confronted, despite the myriad of challenges faced. Several fundamental shifts are changing the landscape of rare diseases research and development, particularly with the application and extension of results to common diseases and the advancement of personalized medicine initiatives.