Rare Pharmacy Emerges From Specialty, Part 2

Pharmacy Practice in Focus: OncologyAugust 2020
Volume 2
Issue 4

Challenges and impact of rare diseases are faced by pharmacy stakeholders.

Part 1 of this 3-part series, published in last month’s Directions in Oncology Pharmacy™, explored how changes in US federal policy and advances in scientific research have led to the dawn of medical breakthroughs for rare disorders. Part 2 describes how rare pharmacy has emerged distinctly from specialty pharmacy to address the unique needs of patients, biopharma, providers, and payers.

Challenges, Impact of Rare Disease

In the rare disease landscape, the patient care process presents many unique challenges. The rarity of the disease state coupled with novel medication mechanisms and high costs leads to complexities in accessing treatment and optimizing outcomes. To fully understand and appropriately manage this market, manufacturers, providers, payers, pharmacies, and patients need to recognize the challenges and identify the mechanisms to overcome them.


The complexity of developing a rare medication is recognized and acknowledged by industry stakeholders. This is in part due to the physiology of many rare diseases, which present unique hurdles for scientists, as inherently small patient populations make recruiting for and conducting clinical studies difficult; indeed, a rare disease is defined as one that afflicts fewer than 200,000 patients in the United States.1,2 As such, the process of understanding the disease and developing an effective and tolerable medication for patients is often a lengthy one. The Pharmaceutical Research and Manufacturers of America indicates that developing orphan medications takes on average 2.3 years or longer.2 In addition to lengthy research and development processes, manufacturers encounter barriers when bringing a new treatment to market, including establishing a distribution network, navigating payer controls, and reviewing potential financial barriers for patients.

Although recent scientific developments and technological improvements are aimed at optimizing orphan medication development, a manufacturer still faces the challenges of identifying the best fit in choosing their preferred distribution channel, such as a specialty pharmacy.3 Data show that many manufacturers use limited distribution models and select their pharmacy partners based on quality, provision of high-touch patient care, and capacity to navigate payer complexities to access medications.3 A continual challenge to manufacturers, choosing the right launch strategy to distribute their product is a crucial component of their drug development and commercialization process and must include consideration for the need for hub services, data aggregators, distributors, and the number of specialty pharmacies that will dispense the medication.3 A solid foundation with the specialty pharmacy services in product distribution and patient engagement is necessary to achieve success in the marketplace.

In a survey about the greatest challenges manufacturers faced from 2017 to 2018, 33% cited payer controls and payer-created access restrictions as major hurdles in the development process.3 In addition, manufacturers recognize the expense of developing orphan medications and the out-of-pocket cost for patients and have sought to create access mechanisms for patients who do not gave traditional payment options.3 Through foundation support and co-pay assistance programs, manufacturers are striving to improve access to these life-altering medications. Between 2014 and 2018, the mean orphan drug cost per patient was approximately 4.5 times that of a nonorphan drug.4 Interestingly, though, that price differential has decreased by almost 50% in the past 4 years.4

Despite the barriers that manufacturers face when launching a new medication, offering a life-changing therapy for a rare disease where none previously existed is the ultimate victory. Improvements in the patient’s quality of life and health outcomes continue to drive future development opportunities and challenge manufacturers to keep filling gaps in the rare disease space.


Payers are responsible for determining how to cover the cost of medications and control associated spend across patient populations. Patients with rare diseases are challenging to payers because small patient populations can consume larger-than-proportional percentages of total costs. Specialty prescriptions account for only approximately 2% of prescriptions but represent nearly 50% of total pharmacy expenditure.5,6 Payers review new medications and determine coverage criteria before they commit to reimbursement for the drug. These coverage determinations may place barriers between the prescribing physician’s decision-making and the patient who needs life-changing therapy.

Because medications for rare disease can be extremely costly, appropriate utilization is critical. As such, payers implement criteria to ensure appropriate utilization of the medications. Survey data show that when asked to identify some of their biggest challenges with specialty distribution, payers pointed to pricing, communication, and reporting.3 They also reported a need for consistency in pharmaceutical care, data sharing, and focus on patient outcomes.3

A growing challenge for payers is the continued management of specialty drug spend as more orphan drugs come to market. With more technologies and medicines for rare disease reaching the final stages of development, payers are working to establish innovative payment models. These models need to allow appropriate access to these medications, including cell and gene therapies, while mitigating the financial impact on the health plan and individual employer groups. As the health care industry changes, new payment models are expected to follow.


Anxiety and fear of the unknown can affect not only patients with a rare disease but their families and caregivers as well. Approximately 50% of rare diseases affect children, and in these cases, parents and families must cope with difficult choices,7 and some 30% of patients with a rare disease die from their condition before age 5.7 As such, a great urgency exists to diagnose rare diseases and treat patients living with them, and the health care community must consider the impact on patients, families, and their support systems. The community and regulatory bodies recognize the importance of supporting research and building a community around rare diseases. In 2020, the FDA held a public meeting to observe Rare Disease Day and allow stakeholders to discuss issues for drug product development for rare conditions.

Unfortunately, the road to diagnosis and proper treatment is often difficult for patients and their families. The process can be lengthy and frustrating as patients and their families attempt to understand the disease, find an experienced physician, and seek treatment, all while going about daily life and trying to manage challenging symptoms. Through patient advocacy groups, patient assistance programs, and support services, the rare disease health care industry is making advances in providing optimal care and improving medication access, ensuring that the patient remains the focal point. Many patients who had difficulty receiving an accurate diagnosis or appropriate resources are now mentoring and supporting other members with new diagnoses in the rare disease community. Having gone throughthe challenges when the industry was less developed, the community was smaller, and less was known about rare disease, many community veterans know how hard the process was to navigate alone and want to make it easier for others. As such, rare disease communities have become an essential part of the patient’s care network.

Organizations such as the National Organization for Rare Diseases, Global Genes, and RareConnect have made patient advocacy their missions, providing support, information, and a network of health care professionals for those afflicted with a rare disease.8-10 The platforms for communication and information exchange among these organizations supplement rare disease organization sites focused on specific conditions. The dispensing specialty pharmacy also plays a critical role in providing continuous, reliable access to information on these resources for patients and their families.

In addition to finding support and educational resources after a rare diagnosis, patients also face challenges with diagnosis and treatment. The process of receiving an accurate diagnosis and finding a rare disease specialist is often fraught with delays and setbacks and can take years. Rare disease organization sites assist by compiling center-of-excellence locations and providing specialist listings of providers who are most knowledgeable about a specific rare disease. These resources save patients time and money while helping alleviate their frustrations and providing answers. Although many rare diseases have historically been misdiagnosed, the health care community is improving education among professionals and developing tools for identifying the rarity of the disease and niche prescribing practices, allowing for more accurate and timelier diagnoses.

Compounding the barriers associated with seeking treatment for a rare diagnosis are delays in medication access due to payer coverage criteria. From the time a medication enters the market, patients and pharmacies work continuously to seek insurance approvals and ensure timely medication delivery. This process begins with the specialty pharmacy network selected to dispense the medication, and it works through the payer requirements together with prescribers and patients. The specialty pharmacy will look for co-pay and foundation support to help cover out-of-pocket costs when needed.

Innovations at the manufacturer, provider, and pharmacy levels are crucial to enhancing patient care. The many stakeholders in the rare pharmacy industry strive to understand each part of the patient journey and provide the best services to assist patients in all aspects of their treatment.


Of the FDA-approved medications for rare diseases, many are considered first in class, containing a novel mechanism of action designed for a very specific patient population. These products often have complex dosing regimens, unique adverse effect profiles, complicated prior authorization processes, and high out-of-pocket costs. Additionally, providers often do not have the resources to efficiently manage the unique, extended needs of these patients.

A common challenge for providers is difficulty in diagnosis. A reported 40% of patients with a rare disease receive a misdiagnosis at least once.7 An example of a commonly misdiagnosed rare disease is primary periodic paralysis. The principal clinical manifestation of the disease is episodic muscle weakness and, in some circumstances, corresponding abnormal potassium levels. These patients often receive a misdiagnosis of hypokalemia and are treated with potassium supplements, as primary periodic paralysis is present in only 4000 to 5000 patients in the United States and hypokalemia is much more common.11 This is but 1 example of how easily rare disease symptoms can reflect those of a more common disease state, leading providers down a path of exploring all possible diagnoses through trial and error.

Furthermore, providers must also have the confidence to prescribe and manage new-to-market medications. Unlike other medications, orphan products are supported solely by the clinical trial data of very controlled, small patient populations. These medications require high-touch management, near-constant monitoring, and pharmacy and physician collaboration. Providers need health care partners that not only provide necessary support for their patients but also assist the provider and their staff by imparting their unique knowledge of the drug and the disease state in question, managing the complexities of the medication, and collaborating to support medication acquisition for their patients.


In response to rapid advances in medications and the complexity of the disease states being treated, specialty pharmacies have adapted to expand their offerings and meet the needs of the changing market. The main challenges facing pharmacies dispensing medications for rare diseases are patient access to the medications and the patient experience. Centered on empathy and understanding, a superior patient experience is dependent on the pharmacy’s in-depth understanding of the patient journey, proper training, and continuous education. Often, individualized management of patients with a rare disease can translate into better outcomes. Specialty pharmacies should strive for continual improvement in their care models, focusing on the customization needed for each medication as well as data collection and reporting of program results. The focus of the industry should be on facets such as adherence, persistence, financial assistance, and the achievement of personal patient goals, which both independently and collectively optimize the patient journey.3

As pharmacies enter the market for rare diseases, it is vital that they have the structure and technology to assist every patient taking these medications regardless of where they are in their journey. Programs need to have specialized teams that use program-specific technologies to guide them through the care process and to collect and analyze data.

Pharmacies that want to succeed in the rare disease space need to develop and implement programs that are different from what is currently used for other specialty drugs.


The rare disease spectrum is challenging for various stakeholders, including the manufacturer, the provider, the payer, pharmacies, and patients. The manufacturer has unique hurdles throughout the drug development, distribution, and marketing process. It is also tasked with making therapies affordable so that patients can benefit from advances. Payers need to work in concert with other members of the health care team to ensure appropriate utilization of these unique medications while mitigating the financial impact. Concurrently, providers also need support to navigate the rare disease space as they prescribe these complex, new-to-market therapies that require high-touch management and significant monitoring.

Patients are the most important part of this journey and are burdened with significant challenges, ranging from receiving an accurate diagnosis, locating support, and finding educational resources on their disease and medications. Adding to those barriers are concern over cost, delays in therapy secondary to insurance approvals, and medication delivery.

Located at the center of the medication use process, a new type of specialty pharmacy focused exclusively on rare diseases—rare pharmacy—can play a leading role in providing optimized care for patients while tackling challenges, easing burdens, and addressing all stakeholder needs. With a specialized, multifunctional team that coordinates care, a rare disease—focused pharmacy can improve the quality of life of patients living with chronic and devastating diseases.

Part 3 of the series will highlight the proposition that patients with rare and devastating disorders require and deserve a higher quality of care and service that only an accredited rare pharmacy can deliver.

GORDON J. VANSCOY, PHARMD, MBA, is chairman and CEO, PANTHERx Rare, and associate dean for business innovation, University of Pittsburgh School of Pharmacy;PAMELA KOERNER, PHARMD, is associate professor, School of Pharmacy, and director, Giant Eagle Center for Pharmacy Practice, Duquesne University, Pittsburgh; and RICHARD FARIS, PHD, RPH, is senior vice president and head of pharmacy, PANTHERx Rare.Brittany Albert, PharmD, and Marissa Puc, PharmD, contributed to the research and writing of this white paper.


  • Orphan Drug Act - relevant excerpts. FDA. Updated March 9, 2018. Accessed July 16, 2020. https://www.fda.gov/industry/designating-orphan-product-drugs-and-biological-products/orphan-drug-act-relevant-excerpts
  • Strone G. ICYMI: orphan drug development brings unique challenges. Pharmaceutical Research and Manufacturers of America. May 21, 2018. Accessed July 16, 2020. https://catalyst.phrma.org/icymi-orphan-drug-development-brings-unique-challenges
  • CSI Specialty Group. 2019 state of specialty pharmacy report. The Academy. Accessed July 16, 2020. https://academynet.com/sites/default/files/csi2019spreport.pdf
  • EvaluatePharma orphan drug report 2019. EvaluatePharma. April 25, 2019. Accessed July 16, 2020. https://www.evaluate.com/thought-leadership/pharma/evaluatepharma-orphan-drug-report-2019
  • Reinke T. Specialty drug spend soars. Can formulary management bring it down to earth? Managed Care. 2019;28(9):23,28-29. Accessed July 16, 2020. https://lsc-pagepro.mydigitalpublication.com/publication/?i=613323&article_id=3460619&view=articleBrowser&ver=html5
  • Medicine use and spending in the U.S.: a review of 2018 and outlook to 2023. IQVIA. May 9, 2019. Accessed July 16, 2020. https://www.iqvia.com/insights/the-iqvia-institute/reports/medicine-use-and-spending-in-the-us-a-review-of-2018-and-outlook-to-2023
  • The global challenge of rare disease diagnosis: a policy briefing. Shire. January 2015. Accessed July 16, 2020. https://www.shire.com/~/media/shire/shireglobal/shirecom/pdffiles/patient/therapeutic%20areas/diagnosis/2015-feb-shire-rarediseaseday-globalchallenge.pd
  • For patients & families. National Organization for Rare Disorders. Accessed April 13, 2020. https://rarediseases.org/
  • Who we are. Global Genes. Accessed April 13, 2020. https://globalgenes.org/
  • About RareConnect. RareConnect. Accessed April 13, 2020. https://www.rareconnect.org/en
  • Primary periodic paralysis. Strongbridge Biopharma. February 2020. Accessed April 13, 2020. https://www.strongbridgebio.com/therapeutic-focus/primary-periodic-paralysis/

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