Patient-First Approach: High-Value, Cost-Effective Way to Meet Unique Needs of Patients with Orphan or Rare Disorder

Updated on April 28, 2021
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By Donovan Quill, President and CEO, Optime Care 

A new study reveals that of the 599 FDA-approved orphan products to treat rare diseases between 1983 and July 2020, 75% treated only one rare disease. The analysis shows that 154 orphan products were first FDA-approved to treat a single rare disease and, after additional research, earned one or more orphan indications. While 10% of all orphan products have three or more orphan indications, the majority of orphan products treat very few rare diseases and, in turn, small numbers of rare disease patients. 

At the time of the study, 158 orphan products were eligible for generic/biosimilar competition due to expired patents and orphan drug exclusivity, with generics/biosimilars available for 81 (51%) of these products. 

The 30 million Americans who live with a range of 7,000 rare or orphan diseases require a high level of therapy adherence support, with individuals having higher medical needs, often missing work, retiring early and relying on caregiver assistance. This represents a substantial economic burden for the patient, the unpaid family caregivers and the health system, as well as additional medical costs for managing the disease.

The estimated total economic burden of 379 rare diseases with a prevalence of 15.5 million people in 2019 was $966 billion, including a direct medical cost of $418 billion and an additional $548 billion in indirect and non-medical cost. Direct medical cost represents more than one-third of the total burden (43%), followed by absenteeism losses (15%), and loss due to presenteeism (25%). Overall, labor market productivity losses due to rare diseases, including absenteeism, presenteeism and earnings losses from forced retirement, represent roughly the same proportion of the total burden as direct medical costs (44%). Non-medical costs represent about 12% of the total burden.

Commercial payers face the largest share of medical cost, while employers pay for significant productivity losses associated with absenteeism and presenteeism, including productivity losses of $135 billion from adults with rare disease whose disease progression and diagnoses require time away from the workplace and $152 billion from their caregivers. 

Fortunately, a patient-first care model can enable every stakeholder impacted by rare disease to more effectively address compliance and adherence to mitigate costs and improve outcomes. Patient-first strategies offer targeted programs and services that deliver specialized expertise that transcends the scope of capabilities provided by traditional, legacy care organizations, which are often designed exclusively for scale. 

High Level Support for Specialty Patients 

The higher level of care continuity delivered by a patient-first approach strengthens communication, yields rich data for more informed decision making and improves the overall patient experience. Dedicated clinical teams are better able to seamlessly eliminate treatment gaps for the patient. What’s more, this strategy addresses all variables around collecting data, while maintaining frequent communication with patients and their families to ensure compliance and positive outcomes. 

A patient-first care team, including care coordinators, pharmacists, nurses and other specialists, focuses on the disease state, patient community and therapy. This is critical for transcending the limitations of the standard specialty pharmacy and hub service provider, which too often rely on technology solutions that fail to address human needs and variability.  

Finding the Right Patient Management Partner

When identifying a specialty pharmacy and patient management organization thatcreates a partnership for personalized care, look for a partner that offers a suite of comprehensive services tailored to maximize the therapeutic opportunities for the treatment of rare and orphan disorders. A patien-first approach can provide the trusted path for patients and all those involved in the treatment journey. This adds much-needed support for the patient’s family and caregivers, enabling them to becomemore engaged and take ownership, which leads to a stronger partnership and better patient care.


The partner’s telehealth solution should be designed to streamline patient enrollment, maximize interaction with patients for adherence and compliance, and provide continuity of care to avoid lapses in therapy. It should rely upon dedicated team members who have expertise in every aspect of the patient’s drug and can address every question and concern from patients, pharmacists, physicians, providers and payers. 

Effective telehealth is particularly important for addressing the unique healthcare coordination needs of patients with a rare or orphan disease and, more importantly, the newly diagnosed patient. 

As part of a larger personalized care plan, and tied specifically to a particular specialty drug, telehealth enables pharmacists to empower their patients to thrive, even during times of disruption and uncertainty brought on by the COVID-19 pandemic and other unforeseen emergencies.  

Customized care coordination and telehealth solutions add another layer to a proactive, process-driven program, educating the patient on potential risks. This fosters discussion between the patient and providers that is essential to understanding the patient’s needs, providing focus on the drug’s impact and monitoring overall health. By incorporating assessments and predetermined touch points each month, the care team is able to stay on top of side effects and capture real world evidence around the therapy, disorder and person’s well-being.

Proven Expertise

The most effective specialty partner should demonstrate expertise in navigating the insurance landscape and prior authorization process, as needed, and know how to monitor and encourage compliance. It’s also important to find a partner with dual accreditation from the Utilization Review Accreditation Commission (URAC) for compliance with specialty pharmacy and the Accreditation Commission for Health Care (ACHC) for specialty pharmacy services. This demonstrates commitment to providing quality care and services to these patient populations. 

Ideally, the care management solution should meet the needs of everyone involved in the patient’s journey, from specialty drug manufacturers to pharmacists, caregivers and physicians.   

Donovan entered the world of healthcare after a successful coaching career and teaching at the collegiate level. His personal mission was to help patients who suffer from an orphan disorder that has affected his entire family (Alpha-1 Antitrypsin Deficiency). Donovan became a Patient Advocate for Centric Health Resources and traveled the country raising awareness, improving detection, and providing education to patients and healthcare providers.

The Editorial Team at Healthcare Business Today is made up of skilled healthcare writers and experts, led by our managing editor, Daniel Casciato, who has over 25 years of experience in healthcare writing. Since 1998, we have produced compelling and informative content for numerous publications, establishing ourselves as a trusted resource for health and wellness information. We offer readers access to fresh health, medicine, science, and technology developments and the latest in patient news, emphasizing how these developments affect our lives.