Rare diseases affect an estimated 3.5-5.9% of the global population and over 300 million people worldwide and present unique challenges for patients such as navigating delayed diagnoses, limited treatment options, and significant hurdles to therapy adherence.
Innovative digital solutions can reduce barriers to therapy and improve adherence, leading to better outcomes and quality of life for individuals suffering from rare diseases, while also enhancing education, empowerment and personalized support.
We’ve identified several ways that digital solutions can be leveraged in greater support of rare disease patients.
Improve the diagnostic process
Rare diseases often present with symptoms that mimic more common conditions, leading to misdiagnoses or years-long delays in identification. On average, it can take five to seven years for patients to receive a correct diagnosis, during which patients may undergo unnecessary treatments or experience worsening symptoms. These delays are heightened by limited awareness of rare diseases and the high costs of specialized diagnostics like genetic testing.
The complexity of the diagnostic process is further heightened by limited clinical resources, genomic expertise, and workforce shortages and the provision of personalized genetic counseling which leads to longer wait times and delayed diagnoses.
These barriers disproportionately affect marginalized populations, where additional obstacles like low health literacy, distrust in healthcare systems, and inadequate access to care intersect with the already challenging diagnostic process.
To improve outcomes, innovative strategies and technology-driven solutions must be adopted to enhance access to diagnostics, support patient decision-making, and streamline the pathway to care. To address the challenges of delayed or missed diagnoses, a multifaceted approach is needed to integrate new technologies, raise awareness among HCPs, and enhance access to genetic tools. Let’s start by taking a look at the tools that are currently available and being developed to address these gaps.
Digital tools for genome sequencing
Digital platforms such as Genetics Adviser are transforming the diagnostic process by simplifying the genetic testing journey for patients and clinicians. These tools provide user-friendly resources for consent, education, genetic counselling, and test result interpretation.
Utilizing Advanced Diagnostic Tools
Expanding access to genetic testing, biomarker analysis, and AI-powered diagnostic tools is critical. Studies have found that AI-enabled clinical decision support (CDS) systems embedded in electronic health records (EHS) can identify patterns that might otherwise be missed, speeding up the diagnostic process. Additionally, investments in research to develop new diagnostic biomarkers can enhance the accuracy and efficiency of rare disease identification.
1. Enable Easier Access to Rare Disease Education
Digital patient platforms can facilitate a personalized approach to disease education with tailored resources that match each stage of an individual’s journey, or by leveraging AI tools to ensure the right content reaches patients when they need it most.
For example, if a rare disease patient using a digital patient platform expresses they are having issues staying on therapy or are experiencing stigma in a hospital setting, AI-supported platforms like RxPx can surface content that addresses these matters right to the individual.
Digital platforms like RxPx can also simplify complex medical information, making it more accessible and easier to understand for patients. A patient can indicate how they best like to receive information (i.e. videos, infographics, articles etc.) and content that explains diagnoses, therapy plans, daily lifestyle tips and side effect management will be surfaced accordingly.
Other digital tools such as virtual appointments can allow patients to receive one-on-one counseling from HCPs, giving them and their caregivers an opportunity to ask more questions, clarify doubts, and address fears from the comfort of their homes.
2. Offer Accessible Peer-to-Peer Support
Managing a rare disease can feel isolating and overwhelming for most patients. That’s why at RxPx, we’ve integrated innovative digital solutions to prioritize emotional well-being and peer support alongside physical health. Our patient platform connects patients to critical support systems that foster emotional resilience, while also recognizing the vital role caregivers play in this journey.
Providing access to private, peer-to-peer support communities for rare disease patients can have a profoundly positive impact on an individual’s well being, especially those that find their voices silenced or lost in traditional social spaces.
In one example at RxPx, several patients living with sickle cell disease were being banned from traditional social platforms when sharing their experiences about the stigma they faced in hospitals or the crippling impacts of a pain crisis. As part of a strategy for a global pharmaceutical brand to acquire, retain and educate sickle cell patients about the benefits of staying on therapy, RxPx developed a private, peer-to-peer platform where individuals could share their experiences uncensored and connect with others going through the same thing.
“It’s overwhelmingly comforting at the thought of having people understand my day-to-day problems and struggles that no one else does. The thought of not feeling alone with this cruel disease makes me emotional.”
– Sickle cell disease patient, RxPx patient platform.
In addition to a strong peer-to-peer community, patients had access to daily check-ins, expert coaching, and live events, helping patients feel less isolated and more supported in their journeys. Private, digital peer support groups foster a safe space where individuals can share experiences, exchange advice, and build meaningful connections, all in the palm of their hand.
Read the full case study here.
3. Leverage Patient Influencers and Digital Content Strategy
Another way to engage and support rare disease patients is by leveraging patient influencers and tailored content that is accessible and specific to the demographic’s daily lifestyle needs and challenges.
In the same sickle cell example, RxPx launched an optimized social media ad campaign leveraging patient ambassadors to raise awareness of the free patient platform resource for individuals living with sickle cell in the US.
Patient ambassadors contributed to in-app content initiatives including live events, patient stories and therapy-focused educational content. Ambassadors also led support-based discussions and groups within the patient platform.
In addition, RxPx developed tailored content programs specific to each step in the patient journey, including education and support around therapy commencement and adherence. The platform offered side effect trackers, pain crisis management tools, mental health tracking features, a community manager and a robust library of supportive lifestyle resources.
The RxPx platform enables unique and powerful opportunities to leverage patient ambassadors towards engagement-rich initiatives that bolster education and communication amongst patients.
Influencer Initiatives Examples:
- Exclusive, influencer-driven articles and stories available only to patients within the platform
- In-App events like meet and greets, and live Q&As
- Media-rich content opportunities such as audio or visual interviews and ambassador features
- Ambassador spotlights and thematic newsfeed takeovers
The results of the program spoke volumes about the need to provide this type of interactive support to rare disease patients:
- 66% increase in in-platform patient population
- 79% of patients continued to sign into platform over 90 Day Period
- 6000+ patients engaged
4. Implement Digital Patient Support Programs a Human Touch
Digital patient support programs that include human-touch features such as home infusions or travel assist programs (helping patients find specialists to administer treatments in a travel destination), along with nurse check-ins provide a holistic approach to rare disease care.
Search for HCP portals that enable access to personalized analytical insights that evaluate patients’ symptoms and the impact of treatment on progression which can ultimately help patients stay on therapies and achieve better outcomes.
Finally, many digital programs can also offer automated treatment email or SMS reminders for patients, as well as with check-in reminders for HCPs.
Conclusion
Digital technologies are revolutionizing the way rare diseases are diagnosed, treated, and managed. By simplifying complex processes, empowering patients and caregivers, and addressing barriers to diagnosis and therapy adherence, these innovations are creating a more inclusive and patient-centered healthcare ecosystem. As we continue to harness the potential of digital solutions, we can ensure that individuals with rare diseases receive the support they need to navigate their journeys with confidence and achieve better health outcomes.
To find out more about how our digital solutions are revolutionizing care for rare disease patients, click here to contact us.
To learn more , download our free eBook, “Delivering Exceptional Patient Value: A Practical Guide for Brand Executives”, or book a demo today. Take the next step in transforming patient engagement and improving health outcomes.
