Specialty Rare Disease Management: Taking a Holistic Approach


The cause of the majority of rare diseases is associated with 80% of the cases being genetically linked due to inheritance of mutated genes.

Not long ago, I came across a very unique specialty patient while reviewing some specialty data. This patient had hypophosphatasia, a rare disease as a result of an inherited genetic disorder that affects the development of bones and teeth.

This condition disrupts a process called mineralization, in which minerals such as calcium and phosphorus are deposited in developing bones and teeth. It is estimated that severe forms of hypophosphatasia affect an estimated 1 in 100,000 newborns.

Although the prevalence is extremely low and, statistically speaking, it is highly unusual to see this condition, the exorbitant sticker shock of the prescription claims for this patient prompted more investigation. After all, prescription claims for this drug can range in costs from hundreds of thousands of dollars to more than $2 million depending on the weight of the patient. This raises the question of what can you do to manage this condition—or any other rare diseases for that matter?

To begin with, we need to understand what a rare disease is and how is that characterized in the United States. According to the National Institutes of Health (NIH), the FDA, and the National Organization for Rare Disorders (NORD), a rare disease is any disease, disorder, illness or condition affecting fewer than 200,000 people in the United States as defined by the Orphan Drug Designation Program.

A few examples of rare diseases include cerebral palsy, cystic fibrosis, Gaucher disease, hemophilia, hereditary angioedema, sickle cell disease, sarcoidosis, systemic lupus erythematosus, Dravet Syndrome, and rare cancers in oncology. The cause of the majority of rare diseases is associated with 80% of the cases being genetically linked due to inheritance of mutated genes.

Other conditions are acquired through infection, toxic exposures, or radiation, and 50% of the conditions affect infants and children. Rare diseases are life-altering, serious conditions that can be life-threatening or fatal.

In terms of treating rare disease, we are making progress in the United States. There are approximately 7000 rare diseases listed by the NIH with approximately 500 FDA-approved drugs to treat these diseases.

Most recently, in 2018, the FDA approved 35 drugs for rare conditions. Yet even with this robust approval pipeline, 95% of rare diseases currently have no treatment available.

Consequently, the FDA rare disease program, via the Orphan Drug Act of 1983, began to incentivize the pharmaceutical industry to invest in treatments for rare conditions. The act provides financial incentives to drug-makers, such as waivers from FDA fees, tax incentives for research and marketing exclusivity, as well as the ability to apply for FDA Orphan Drug Development grants and a few other perks if it’s for the pediatric population.

Drugs for rare diseases are among the highest priced medications on the market. In 2017, the average cost of an orphan drug was $147,308 compared with $30,708 for a mass-market drug, according to a 2018 Evaluate Pharma report.

As this boggles the minds of everyone in the system, one might ask, how can all these rare diseases be managed? Managed care organizations need to consider how they can be involved with the payment of the treatment of rare diseases and orphan drugs.

Education about rare diseases and orphan drugs will be critical and adding or enhancing programs for disease management for rare diseases need to be considered. Partnering with medical and pharmacy benefits to develop treatment guidelines and reimbursement policies for rare diseases will be essential.

The fact is that patients with rare conditions are costly and the drug costs mentioned earlier are just the tip of the iceberg. Many other costs are associated with treating these patients.

Patients with rare diseases are a small but unique group who can significantly impact a payer’s overall spend. For example, patients with rare conditions are 4 times more expensive than an average patient (medical and pharmacy). They are more than twice as expensive as a common chronic patient (medical and pharmacy).

Of patients with rare conditions, 1 out of 5 are readmitted to the hospital in 30 days and 1 out of 3 visit the emergency department (ED) each year. Furthermore, 3 out of 4 patients have a comorbidity and 1 in 4 are on a specialty medication.

Drug therapy is becoming more prevalent in treating rare disease. Breakthrough therapies are approved often as described earlier, so part of the management of rare disease patients resides with pharmacists and specialty pharmacy providers, who primarily focus on delivering more traditional specialty pharmacy services, such as medication therapy management.

Traditional specialty pharmacy services may include access to specialty medications, benefits verification and financial assistance coordination, injection training coordination, education on medication adherence and adverse effects (AEs), compliance with any applicable risk evaluation and mitigation strategy (REMS) programs, inventory coordination to help reduce drug waste, and promotion of adherence to drug therapy through various mechanisms.

Pharmacists can optimize drug management by providing education to help prevent and manage complications related to the patient’s medication, as well as manage AEs and other barriers to adherence, and monitor for drug interactions. Pharmacists should be trained to understand the unique characteristics of patients with rare diseases, including their associated disabilities and special needs, and provide comprehensive monitoring of therapies and interventions.

In order to have a successful, holistic, rare patient management solution, a payer should coordinate and integrate rare disease management programs to complement pharmacy management initiatives. Rare disease management providers must have experience in these conditions coupled with a program that is both proactive and fully integrated with the specialty pharmacy so that the patient is supported holistically.

Nurses should work collaboratively with the patient, their caregivers, and health care providers to help ensure the most appropriate plan of care. Nurses should incorporate motivational interviewing techniques to assess patients’ understanding of their current health status and potential health risks. Nurses are well positioned to proactively identify and address gaps in care to help prevent avoidable disease complications and costly ED visits and hospitalizations.

Successful rare disease management programs will address the opportunity to identify gaps in care and provide meaningful interventions to help improve the health and care of patients with rare conditions with a model that focuses on proactive holistic patient care, including comorbidity management.

Programs need to pair disease management backed by the evidence-based medicine and clinical guidelines designed to help patients holistically manage their rare disease, not just adherence to their medication. Care management programs need to be led by highly trained and specialized nurses with experience in complex, rare care who provide comprehensive patient education, medication and symptom management.

Nurses are also instrumental in helping to coordinate and connect patients’ care with their other health care providers to help ensure the most appropriate plan of care. All of this can be accomplished by contacting patients earlier with more effective clinical interventions, which helps increase patient engagement.

Enhancing connectivity and coordinated care with a more complete and timely view of the whole patient via the electronic health record (EHR) helps foster collaboration and better outcomes. Specially trained nurses or pharmacists can use outbound calls to proactively assess the patients’ understanding of their current health status and potential risks, close gaps in care through targeted interventions, and help facilitate continuity of care.

A medical advisory board comprised of nationally recognized and specialized physicians can help build in-depth case management tools and clinical decision support systems based on the latest evidence-based medicine and clinical guidelines. Experienced guidance helps ensure the latest high-quality standard of care and the medical advisory board should be readily available to routinely advise on complex patient cases.

From a patient perspective, engaging patients at the right time (ie, during the prescription process) is key to helping improve patient engagement, particularly at a point in time when the patient is already engaged and thinking about their health. Proactive, personalized engagement helps identify gaps in care, improve patient experience and outcomes and reduce costs, and most importantly, lead to avoidable disease complications and ED visits/hospitalizations.

With holistic case management, a behavioral support specialist should be available when a patient demonstrates a need for support in other areas, such as social support, motivation, resources, mental stability, and quality of life.

Managing rare diseases requires exploring multiple facets of each patient’s health experience to help them achieve success in several areas. Within the continuity of care spectrum, disease management programs should help ensure patient has a good relationship with their providers, collaboration with other health care providers, and community resources to help better manage and reduce condition-related complications.

Across the comprehensive care spectrum, programs need to provide education to help prevent and manage complications related to the patient’s condition. Self-care education should address areas such as diet and nutrition support and fall prevention. This could include screening for depression, exploring the timing/frequency of required lab testing, and exploring related comorbidities.

Care optimization requires providing condition-level care coordination, such as transportation and durable medical equipment. Symptom management related to the patient’s condition should be assessed, such as fatigue, cognitive dysfunction, and pain. Comorbidity management addresses concomitant issues, such as depression, diabetes, and heart failure.

A nurse often connects program patients to an experienced resource specialist. The resource specialist can connect the patient to partners that provide non-clinical patient support. Support areas may include transportation, lodging, food, utilities, dental, and home safety, as well as facilitating access to community resources and disease-specific organizations that help overcome barriers to treatment.

The origins and causes of rare diseases can be difficult to identify and the clinical presentation and array of symptoms of the diseases are often different for each patient, which makes rare diseases difficult to diagnose.

More than 30 million Americans are estimated to have a rare disease today, making for a lucrative market for biopharmaceutical companies to invest in developing and advancing novel therapies. Stakeholders across the system are looking for ways to drive innovation for these patients, as well as provide a benefit to pay for them.

The stakes are high and so is the management of these conditions. A proactive, holistic approach should be integrated across health care providers, both at the pharmacy and medical level that helps improve patient experience and outcomes and reduce costs.

About the Author

Brandeis Seymore earned her Bachelor of Science Pharmacy degree from the Duquesne University School of Pharmacy and is currently enrolled in the Master of Pharmacy Business Administration (MPBA) program at the University of Pittsburgh, a 12-month, executive-style graduate education program designed for working professionals striving to be tomorrow’s leaders in the business of medicines. She has spent the past several years working as a senior clinical manager assisting employers with their pharmacy benefit management strategy. Prior to these experiences, she has held roles of increasing responsibility, most recently as a Strategic Account Executive to support client’s marketplace needs and demands.

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