A New Frontier in the Fight Against Rare Disease


Rare disease specialty pharmacies offer customizable pharmacy and patient services to make it easier for people living with rare, complex, and often isolating conditions to access the therapy, care, and resources they need.

Approximately 30 million people in the United States—1 in 10 Americans—have been diagnosed with a rare disease, approximately two-thirds of whom are children.1 Rare disease drugs and cell or gene therapies to treat these conditions offer new hope for people living with a rare condition and are among the fastest growing areas of the drug pipeline.

Although these treatments have the potential to save lives, they also represent the most dynamic and costly area in medicine. Complex in their administration, handling and care, these high-touch therapies require customized management and services beyond what traditional pharmacies can provide.

Serving Rare Disease Patients

Rare disease specialty pharmacies offer customizable pharmacy and patient services to make it easier for people living with rare, complex, and often isolating conditions to access the therapy, care, and resources they need. Patients prescribed advanced therapies may face unique difficulties, such as upwards of a 5-year diagnostic journey, challenges with social determinants, and access to physicians and specialists familiar with their disease.

Further, advanced therapies are often complex to manage and have a very high cost. Because of this, patients with rare diseases require higher levels of service and support.

Working with a rare disease specialty pharmacy enables a single point of contact to serve as the patient’s and caregiver’s liaison to services, education, and support. This same contact forms a relationship with the patient’s provider or prescribing office, and ensures that these providers, patients, and families have the additional support they need by coordinating a team of clinical access and reimbursement specialists, pharmacists, and ancillary health providers.

Through tailored programs for each therapy and disease, along with concierge patient-centric service, rare disease specialty pharmacies streamline the treatment process and support so patients can focus on achieving their best health care outcomes.

Partnering with Pharmaceutical Manufacturers, Providers, and Payers

As the innovators of orphan drugs and gene therapies, pharmaceutical manufacturers work in limited distribution pharmacy networks and select a partner with specific experience. Collaborating with a rare disease specialty pharmacy not only enables the delivery of personalized patient care, but also allows the ability to capture precise data points for long-term patient monitoring. This helps to understand the value of the therapy and achieve the best possible outcomes for manufacturers' products and the patients who receive the therapy.

Due to their rarity, many physicians may not have seen these diseases before or prescribed these therapies. They may be new to the medication requirements, dosing regimens, prior authorization processes, logistical hurdles, and high out-of-pocket costs.

Rare disease specialty pharmacies provide support to both gain access to these therapies for their patients and manage their patients’ unique needs along the way. Physicians can work with an expert pharmacist who knows the disease well.

Payers, who are most concerned about these medications’ costs dominating total health care spend, need a partner to provide appropriate utilization and management controls, plus reporting, medical and pharmacy care consistency, transparency in data sharing, and a focus on patient outcomes. Specialty pharmacies with experience in complex care management and the ability to provide outcome-tracking support for value-based models can provide patients with the access and support they need while helping to reduce the financial risk of emerging therapies.

Looking Ahead

As these novel therapies come to market at an unprecedented rate, it is critical we create tools to understand their value and pioneer new models of care and coordination to better serve these patients and their families. Currently, there are only a handful of accredited specialty pharmacies that serve those with rare conditions.

For example, Optum Frontier Therapies is a rare disease specialty pharmacy and distribution business that can provide access to these important, life-saving therapies.

As we look ahead, the industry will need to focus on building new benefit models for rare disease, improving access to genomic testing, and assisting with affordability, among other priorities. But above all, it is imperative that we support patients and their families with compassion while creating access to these innovative therapies at the frontier of health care. 

About the Author

Nancy Mendelsohn, MD, is the Senior Vice President Medical Affairs for genetics and rare diseases at UnitedHealth Group; within this role she serves as the Chief Medical Officer of Optum Frontier Therapies. Dr. Mendelsohn has deep expertise as a board-certified clinical geneticist for 28 years, caring for children and adults with rare disorders. Since joining UnitedHealth Group in 2018, Dr. Mendelsohn has served as the Chief Medical Officer of the Complex Health Solutions team helping the most complex patients and families. She has been active across the enterprise to provide clinical guidance and support to UnitedHealth Group’s strategic priorities related to genomic medicine working across Optum, UnitedHealth Group’s Research and Design, and UnitedHealthcare.


  1. Global Genes. Rare Disease Facts and Figures: 1 in 10 Americans is Living with a Rare Disease
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