Addressing Rare Disease Care Pathways
It’s no secret that we’ve seen incredible innovation in effective treatments for rare diseases over the past decade or two. During this time, biopharma companies have adapted their development, business and go-to-market models to better suit the needs of people living with rare diseases, and the caregivers and providers who support them. And, with 95% of rare diseases still lacking effective disease modifying treatment options[1], we expect (and hope) to see continued focus and innovation around life-changing therapies for rare diseases. However, we also believe there’s work to be done in innovating around rare disease care pathways and healthcare infrastructure that will enable full realization of new therapeutics’ potential.
Biopharma companies have done an excellent job developing high-touch patient support programs and financial assistance programs, engaging with patient advocacy groups, and creating specialized educational materials for all stakeholders – to the extent that this is all table stakes for rare disease companies. However, opportunities remain to stand out in rare disease by becoming true care partners and enabling the development of care pathways to make treatment more accessible. Below, we explore a few areas and examples that we feel are the next set of “table stakes” for biopharma companies to develop in support of patients living with rare diseases, including utilization of AI to identify patients living with rare diseases, overcoming diagnostic challenges, and redesigning care ecosystems.
AI-Driven Identification of Patients Living with Rare Disease
Academics and biopharma companies are beginning to utilize predictive algorithms and AI to identify potential individuals living with specific rare diseases.[2],[3] These AI tools, such as zebraMD, have the potential to increase equity and accelerate recognition, diagnosis, and access to care, as there can be up to a 10-to-15-year delay in diagnosis for rare disease patients.[4] Early identification of potential individuals living with rare disease leads to earlier testing and diagnosis, greater certainty for providers, and the potential to ultimately deliver innovative disease-modifying therapies earlier.
Predictive algorithms are already being used to identify suspected patients with signs and symptoms of a rare disease who may be misdiagnosed. We believe the future entails working even further “upstream” to help individuals and care providers accelerate recognition and diagnosis of a rare disease. Biopharma companies are well positioned to help accelerate this transformation given their depth of rare disease knowledge and extensive resources – but we acknowledge it is not without challenge and suggest that this is a prime example where partnership with centers-of-excellence and/or academic institutions may be valuable.
Overcoming Diagnostic Challenges
Even if we could utilize AI to identify individuals likely to have a particular rare disease, the need for better testing and definitive diagnostic tools remains. One area of focus is improving access to genomic sequencing tools, for which Medicaid and private insurance coverage is currently limited[5], even though ~80% of rare diseases have a genetic cause.[6] While coverage is slowly improving[7], payors currently lack systematic ways of evaluating these tests for reimbursement, often leaving gaps in coverage that place additional financial burden on patients.[8] Biopharma companies can consider advocating for expanded access to these tools, as coverage guidelines for ancillary procedures are unclear – yes, advocating for coverage/access or inclusion of testing in standard protocols is a long and laborious process, but we’ve seen success stories, such as the inclusion of prenatal genetic testing for muscular atrophy in insurance plans[9] as well as the federal government including newborn screening for SMA in the Recommended Uniform Screening Panel (RUSP), and subsequent adoption across all 50 states[10]. Biopharma companies can also work to develop sponsored testing programs where they cover the cost of the test. For example, X4 Pharmaceuticals, without the resources of a large biotech, is providing no-cost genetic testing for patients suspected of having a congenital neutropenic disorder or a primary immunodeficiency through a program called PATH4WARD.[11]
Rare disease companies may also consider working with technology developers to create new diagnostic tools, as well as with key medical experts to encourage early and widespread use. This increased collaboration with physicians could help companies expand referral networks, allowing for more comprehensive and streamlined patient identification and diagnosis.[12]
Evolving Rare Disease Care Ecosystems
Biopharma companies have come a long way in creating comprehensive patient support programs that help patients “get on and stay on” therapies. Many (most?) of these programs are “white glove” to the extent that it is now table stakes in rare diseases. Innovation today comes from positively impacting the entire care ecosystem to enhance the complete care journey, not just where a company’s product fits in. We’ve identified a few examples of how companies have gone the extra mile to improve the rare disease patient care journey:
- Novartis went above and beyond traditional patient services to improve the pathway for Kymriah (the first FDA-approved CAR-T cell therapy). Novartis established an industry-leading patient support platform for CAR-T cell therapy education and resources for patients and caregivers, employs a treatment team and dedicated case manager for each patient, and helps with coordination of care logistics through KYMRIAHCares.[13] This is a fit-for-purpose approach, that recognizes the unique aspects of cell therapy.
- Alexion, in partnership with Ad Scientiam, is looking to improve remote monitoring of complex rare neurological conditions like neuromyelitis optica spectrum disorder (NMOSD) and generalized myasthenia gravis (gMG) using digital biomarkers to track patient symptoms.[14] Patients living with rare autoimmune disorders experience fluctuations in neurological symptoms, leading to a disconnect between patients and physicians in “effectively managing” conditions. This gap can be bridged using digital tools, such as apps and wearables, which record patient symptoms and collect biomarkers that can tell us about a patient’s health and allow physicians to more effectively support treatment management. Like Novartis, Alexion’s approach is fit-for-purpose with regard to NMOSD and gMG.
And that’s really the key – truly understanding what is needed for the specific rare disease a company is addressing, and designing specific solutions that fundamentally innovate beyond the therapeutic to positively impact the entire care journey. Becoming true care partners, working intentionally and thoughtfully with the rare disease community, is critical to both better patient outcomes and biopharma success.
References
[1] Briefing-Note-WHA-Resolution-on-Rare-Diseases_June-2024.pdf
[2] AI-powered tool helps doctors detect rare diseases | UCLA Health
[3] Insight: Big Pharma bets on AI to speed up clinical trials | Reuters
[4] AI-powered tool helps doctors detect rare diseases | UCLA Health
[5] Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action – PMC
[6] The landscape for rare diseases in 2024 – The Lancet Global Health
[7] Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action – PMC
[8] Coverage and Reimbursement of Genetic Tests
[9] Expanded Coverage for Spinal Muscular Atrophy – Prenatal Carrier Testing | EmblemHealth
[10] Newborn Screening for SMA – Cure SMA
[11] Sponsored genetic testing | PATH4WARD Program | Invitae
[12] Rare disease: industry, patients and tech join forces on diagnosis | pharmaphorum
[14] Digital biomarkers: a new era in rare neurological disease and beyond