Reimagining pharmacy services for rare diseases

Understanding the complex, unique needs of patients with rare diseases

While every rare disease, by definition, affects less than 200,000 people in the United States, collectively these conditions are not rare at all — they affect 1 in 10 Americans.¹ Most rare diseases are genetic in origin and 70% begin in childhood.²

Because patients are often young, caregivers (including parents or siblings) play an especially important role in supporting them. This shapes the type of medical and pharmacy services needed to provide care and address their unique needs. Many people living with rare diseases may be dealing with long delays in diagnosis and serious health issues before they can access treatment.³

During this time, they often find themselves needing to become their own experts, doing extensive clinical study research and self-advocacy. The journey often becomes even more grueling because rare diseases are often chronic, progressive, degenerative and frequently life-threatening. Unfortunately, 90% don’t have an approved treatment.⁴

The good news is that recent scientific advances, combined with legislative changes, have led to an evolving pipeline of potential therapies.  

These include blood and neuromuscular diseases as well as those for sickle cell disease, retinal dystrophy, myelofibrosis and others. Nearly two dozen companies are also testing drugs for lysosomal storage disorders which may be available in the future.⁵

For the first time, many patients and caregivers in the rare disease community see hope on the horizon for meaningful treatment and a better quality of life. 

As these therapies move from pipeline to the marketplace, these hopes become reality. However, patients still need timely access to these complex therapies. That’s where proactive, innovative rare disease pharmacy services play a critical role.

Designing a more dynamic model

The traditional specialty pharmacy model must evolve to better support people living with rare diseases who need complex, often high cost, therapies. While traditional specialty pharmacies are certainly specialized, they manage a high volume of disease states which limits their ability to use a customized, flexible approach.

Far greater specialization is required to support rare disease patients who may have multifaceted treatment plans, complex health issues and logistical, administrative, emotional, and financial obstacles to getting the medication they need. Addressing these needs is highly nuanced, demonstrated by the existence of orphan drug and rare disease patient-specific accreditations. 

For example, managing an adult with hemophilia is very different than caring for an infant with a rare liver disease. These patients and caregivers face their own unique struggles. And, their needs will change over time, compounding the challenges.

Medications used to manage rare conditions — especially gene therapies — are highly complex. They may require rigorous processes for handling, distribution and dispensation to keep the therapy safe and delivered quickly. 

For many patients, unique administration methods like injections or infusions can disrupt the family’s routine and can be difficult to manage — especially for younger patients. All of these issues must be considered in dispensing rare disease therapies.

A patient-first model — one that cocreates care models with patients and caregivers — can address these challenges. Building this model requires listening to patients and caregivers and connecting with experts that understand each patient’s needs.

It also requires rethinking everything from the way medication is dispensed to patient and caregiver communications. The goal is to develop customized programs that surround patients with the resources they need — which may look very different for each condition.

The Optum Frontier Therapies approach

By partnering and collaborating with the real experts — patients and caregivers — Optum^® Fronter Therapies has created a patient-first model. We’ve also conducted extensive research with patient advocacy groups, payers, providers and manufacturers to inform our approach. 

Our philosophy is to ask patients and partners the right questions first. Then, we incorporate the answers into our care model. For example, we ask patients and caregivers managing specific rare diseases how they want to be served — and how we can best support them. 

These answers, combined with evidence-based best practices, drive our comprehensive, collaborative care planning. Research shows this type of shared decision making has a positive effect on outcomes.⁶

We continue to bring the right people to the table. Our clinical staff has direct experience in specific rare diseases, and we conduct rigorous training on each therapy before launch. 

We also work with outside experts including national advocacy organizations such as the National Organization for Rare Diseases (NORD), disease-specific groups, and our own external advisory council, which includes leaders from the rare disease community.

Using these insights, we build key processes and unique care models designed to improve quality versus quantity and to build trust among the people we serve. 

This includes giving each patient access to a single point of contact to guide them through the treatment journey. Our highly trained care ambassadors communicate in the way patients prefer, which helps build confidence in their care.

We’re committed to patients at each stage, from welcome calls to dispensing, to adherence and ongoing, longitudinal follow-up.^7,8

Given the health challenges that accompany rare diseases, streamlining access to these medications is key. So, our entire infrastructure is designed to make it easier to access medications. 

For example, our model includes integrated distribution strategies, or the co-location of pharmacy and distribution services. This reduces the need to coordinate with multiple vendors, helps to eliminate delays and ensures appropriate handling.

We also break down affordability barriers to access. Our dedicated staff helps with benefits verification and prior authorizations and connects patients to external financial assistance programs. 

Most importantly, a dedicated patient ambassador orchestrates all of these efforts behind the scenes — serving as each patient’s advocate and champion. The entire team coordinates to act in the patient’s best interests. 

Collaboration keeps patients at the center of care

It’s important to keep providers informed about patient health, adherence and progress, so we share data and collaborate on medication therapy management. 

We nurture deep relationships with patients, caregivers and providers, as patient follow-up may require years or even decades. At Optum Frontier Therapies, we make a lasting commitment.

We’re honored to be part of the lives of people living with rare diseases. As new therapies emerge, we’ll continue to enhance our customized programs via a proactive, collaborative approach that puts patients first. 

Sources

1. National Organization for Rare Disorders (NORD). Rare Disease Facts. https://rarediseases.org/wp-content/uploads/2019/02/nord-rareinsights-rd-facts-2019.pdf. Published 2021. Accessed July 20, 2021.
2. The Lancet. Rare diseases: clinical progress but societal stalemate. thelancet.com/journals/lanchi/article/PIIS2352-4642(20)30062-6/fulltext. Published February 28, 2020. Accessed July 20, 2021.
3. The Lancet. Spotlight on rare diseases. thelancet.com/journals/landia/article/PIIS2213-8587(19)30006-3/fulltext. Published February 2019. Accessed July 20, 2021.
4. National Organization for Rare Disorders (NORD). Rare Disease Facts. https://rarediseases.org/wp-content/uploads/2019/02/nord-rareinsights-rd-facts-2019.pdf. Published 2021. Accessed July 20, 2021.
5. BioPharma Dive. A gene therapy pipeline takes shape for a cluster of rare diseases. biopharmadive.com/news/gene-therapy-lysosomal-storage-disorders-fabry/594991/. Published February 12, 2021. Accessed July 20, 2021.
6. The Journal of Haemophilia Practice. “Personalising haemophilia management with shared decision making.” https://sciendo.com/article/10.17225/jhp00178. Published June 17 2021. Accessed July 20, 2021.
7. Optum Frontier Therapies. Creating access to innovative therapies. https://frontiertherapies.optum.com/about/new-model/innovative-therapies-access.html. Published 2021. Accessed July 20, 2021.
8. Optum Frontier Therapies. Improving rare disease medication adherence. https://frontiertherapies.optum.com/about/new-model/rare-disease-medication-adherence.html. Published 2021. Accessed July 20, 2021.