Pharmacy’s Role in Treating Rare Disease: Connecting Patients, Providers, Payers, and Pharma

A rare disease is defined as one that affects fewer than 200,000 patients, and although uncommon individually, rare diseases in aggregate affect more than 30 million individuals in the United States.¹ Rare, orphan, cell, and gene therapies hold amazing promise for people living with these conditions, but treating these individuals is a complex balancing act that can create significant burdens for patients, families, and the health care ecosystem.

For these high-cost therapies to be effective, several factors need to align—from diagnosis to payment and measuring outcomes—which make it critical that all stakeholders work together. Although the pharmacy has historically been an underrecognized partner in a patient’s care journey, its position at the intersection of the care team gives it a unique ability to connect providers, payers, and pharmaceutical manufacturers, and support patients longitudinally to maximize their health outcomes.

When we think about how a patient reaches the pharmacy, it begins with their diagnostic odyssey, a journey that can take an average of 6 years and 12 specialist visits for rare disease patients.² Given the small treatment population, high cost, and clinical complexity, pharmaceutical manufacturers typically select a small number of pharmacies to participate in an ultra-limited network to manage their therapies, who then work with providers who prescribe the drugs after a diagnosis is made.

Patient needs can look markedly different from the initial diagnosis to the first therapy assessment, and typically, the pharmacy is the most consistent clinical point of contact during this period. Patients with rare diseases require and deserve high-touch pharmacy care and holistic, end-to-end support. The model at Optum Frontier Therapies is intentionally designed to balance the evolution of a patient’s needs and provide longer-term care and monitoring to help those with rare diseases achieve optimal therapeutic outcomes.

Our pharmacy team is a part of a patient’s care journey from the moment they are prescribed a therapy, and ongoing through dose optimization and adverse effect management. This means that before we ever dispense a drug, our pharmacist meets with the patient and caregivers to educate them about the medication and understand their personal goals for quality of life, and we continue to monitor and adjust as needed to ensure those goals are met.

Providers are crucial to the patient’s care journey, and the pharmacy can support them by helping to save time and avoid unnecessary delays in patient care. For example, we help providers navigate the prior authorization process; support and respond to prescribers’ questions and medical necessity determinations; and importantly, we help their patients access support funds to pay for treatments. The ongoing interaction with patients means that we can measure patient-reported outcomes, which helps providers understand the patient’s progression with far more granularity than they may see during annual visits and provides meaningful insights to pharma partners about the value and efficacy of their drug. This is exactly why we tailor follow-up assessments to each disease state and what that specific population needs, rather than simply what’s required for accreditation. Touchpoints timed at the right frequency for the condition mean higher quality data and better therapeutic outcomes.

Here’s a simple example of how our pharmacy team actively connects the dots for patients: Five weeks after starting treatment, a patient began their pharmacy care. Their physician had maintained the initial medication dose instead of increasing it due to nausea adverse effects. After speaking with the patient, our team of pharmacists noted that the patient was taking the therapy after eating. In addition to nausea, dose timing also resulted in significantly lower therapy absorption. Our pharmacist contacted the patient and counseled them to change how they took their dose, so that it was before meals to improve absorption and reduce nausea. The results from a follow up assessment 2 weeks later showed that the issues had been completely resolved with this new regimen. Because pharmacists specialize in these medications and the conditions they treat, they are often well positioned to identify solutions for patients that may be inadvertently overlooked by other members of the patient’s care team.

In addition to offering connectivity between patients and their providers, the pharmacy team is a trusted partner for payers to help patients get the full benefit of their treatment and achieve the full benefit of the payer’s investment. Close contact with patients and their providers—to manage side effects, determine dosage adjustments, and ensure the care plan is fully supported overall—ultimately translates to better value for payers. With appropriate aggregation, the pharmacy can help payers understand the outcomes behind their investment in patients' medications and better evaluate the value of these therapies.

The pharmacy benefit also plays an important role in assisting payers and plan sponsors mitigate the financial risk of these therapies. We’re seeing more risk protection products enter the market, including our Optum Gene Therapy Risk Protection Program. This program provides patients with clinically appropriate access to gene therapies while helping payers avoid the shock of a potentially multi-million-dollar treatment by spreading the cost into a manageable, predictable per member per month fee.

Navigating An Evolving Health Care Landscape: Opportunities in Value-Based Models

Importantly, even with all stakeholders in the health care system working together, the clinical outcomes for patients are not as positive if patients or their insurance carrier cannot afford the cost of therapy. To ensure patients have access to the life-changing treatments they need, it is imperative that outcomes are tracked the right way—which, in turn, informs decisions made by payers and pharmaceutical manufacturers and helps providers deliver appropriate treatments to patients.

Value-based care arrangements are one way to ensure access to life-changing therapies whose high price tags may otherwise challenge our current health care payment models. The benefit of value-based care is that it incentivizes holistic patient management, but one of the challenges of applying this to the rare disease space is that there is an inherently smaller population size, which introduces variability for all stakeholders. We also know that these patients typically have a longer assessment period post-treatment administration, making it difficult to track outcomes over time.

These 2 factors underscore the pharmacy’s unique ability to enable payers and providers who want to engage in value-based contracts. A value-based contract helps manufacturers and payers share the risk, which can expand access for patients.

We also recognize that payers often have limited visibility into outcomes data needed to make reimbursement decisions. Our relationship with the patient means that we can track them longitudinally to observe the durability and efficacy of treatment, collect outcomes data, and serve as a consistent source of support even if patients change providers or payers.

Precision medicine and the treatment of rare diseases holds amazing promise for the future of care, but the tools we need are only beginning to emerge to advance access to these highly innovative and life-altering therapies.

About the Author

Erin Satterwhite is CEO of Optum Specialty Pharmacy and Founding CEO of Optum Frontier Therapies.

Today’s novel therapies demand more from the entities who are tasked with treating these patients. As this important segment of the health care industry grows and evolves, pharmacies have a responsibility to be the connectors amongst stakeholders, stepping up to serve as more than just a transactional point in a patient’s care journey. Stronger collaboration between providers and manufacturers is also essential to developing clearer clinical criteria for treatment appropriateness, as well as efficacy and durability metrics. And for payers, it has become increasingly important to identify partners who can help them evolve with the market, enabling them to assess the increased availability of orphan drugs and ensure access to those who need it.

1. Rare Diseases at FDA. FDA. Updated December 13, 2022. Accessed February 28, 2024. https://www.fda.gov/patients/rare-diseases-fda

2. National Network of NORD Rare Disease Centers of Excellence Expands to 40 US Medical Institutions. National Organization for Rare Disorders. May 4, 2023. Accessed February 28, 2024. https://rarediseases.org/40-centers-of-excellence/