Rare Disease Day: Leveraging digital health to improve management of rare diseases

Today, there are more than 6,000 rare diseases, which impact over 300 million people around the world. Three quarters of these diseases are genetic, and often strike during childhood. Rare diseases include neurological and neuromuscular diseases, metabolic diseases, skin diseases, bone and skeletal disorders, and affect the heart, blood, lungs, kidneys and other organ systems.

Unfortunately, more than 90% of these patients don't have access to a viable treatment option, leaving a huge number of people without the care they need. These diseases can be very difficult to diagnose, treat and manage because of their complexity and unpredictability. In honor of Rare Disease Day, we're exploring how digital can help solve the challenges in managing these diseases.

Providers struggle to help their patients navigate life with rare diseases, and they're looking to biopharma companies to develop digital solutions that can change this. We are proud to be partners with CSL Behring and others in developing digital solutions to aid patients with rare diseases and their care teams.

"CSL Behring's patient population includes patients with rare and serious diseases," says Brian Johnson, Senior Director of Customer Engagement Management at CSL Behring. "Many of our patients' therapies are administered subcutaneously, requiring patients to take a very active role in administering and tracking their infusions. Improving treatment experiences through digital technology [is] a focus for CSL Behring."

Challenges in diagnosing and managing rare diseases

Patients and their providers face many obstacles as they navigate rare diseases. These include:

• A lack of provider experience with many rare diseases, which makes it difficult for patients to get an accurate diagnosis—many patients go years before getting the diagnosis and care they need
• Difficulty finding the appropriate treatment and dose, and adhering to treatments once they've been selected
• Challenging lifestyle modifications and limited access to specialists in the field for patients who don't live near a major medical center specializing in their disease

How digital solutions can help

• Forward-thinking biopharma companies can change the lives of patients living with rare diseases. Digital solutions can empower biopharma companies to:
• Give providers the insights they need to speed the process of diagnosing patients and matching them with the best therapy
• Quickly and easily develop patient-facing apps that can improve adherence by allowing patients to track symptoms and quality of life, keep track of their medications, communicate with their providers and schedule appointments
• Fine-tune treatment and dosing recommendations with treatment selection algorithms that leverage patient- and population-level data
• Provide comprehensive disease management via patient aps and clinician portals

Every day we see more and more progress toward our vision to transform patient outcomes globally by bringing the power of digital technology to healthcare. Rare diseases are an area where digital solutions can have an outsized impact.