Nareda Mills

Nareda Mills, Global President, Patient Solutions at Inizio Engage.

Patient engagement is at the forefront of transforming the healthcare landscape, particularly in the treatment of rare diseases. This transformation is driven by a profound understanding of the unique challenges faced by both patients and healthcare professionals (HCPs) in this context.

Rare diseases inherently demand a more personalized and patient-centric approach to care, manifesting in prioritized and comprehensive support for patients and their families from the outset of treatment. The main goal of patient engagement is to empower patients by giving them a better understanding of their disease and available treatment options. This helps reduce the long periods of uncertainty that often follow a diagnosis and accelerates the path to starting treatment.

Overcoming barriers to rare disease treatment

As there are more than 7,000 rare diseases with more than 30 million individuals living with these conditions in the United States,

 it is crucial to provide this patient population with timely access to diagnosis and prompt treatment where it is available. These patients often find themselves facing a daunting array of obstacles unique to rare diseases on their path to diagnosis and treatment.

The rarity and diversity of the conditions present a unique set of challenges, with many patients enduring a long and arduous journey before receiving a definitive diagnosis. These challenges vary from a lack of disease awareness and expensive tests and consultations to symptom overlap—a diverse disease manifestation complicating the diagnostic process. These factors all delay treatment, which is especially problematic as early administration is often key to successful outcomes.

While receiving a diagnosis is a crucial step, it is just the beginning of the journey for rare disease patients. With a diagnosis, navigating the treatment landscape for rare conditions presents its own set of hurdles, such as limited treatment options, high treatment costs, and the sourcing of HCPs with expertise in the necessary disease area.

Delays in diagnosis increase the risk of patient disengagement. As a result, patients may seek alternative treatments from unreliable online and social media sources. This poses significant health risks, highlighting the need to promptly provide patients with comprehensive treatment information.

To reduce the risk of disengagement, it’s essential to set clear expectations and offer comprehensible patient education. This increases the likelihood of patients staying committed to their prescribed treatment.

Securing coverage: Patient support systems for rare disease patients

Navigating the complex landscape of healthcare coverage can be an intimidating task, especially for patients with rare diseases for which treatments often come with a high price tag. To help patients overcome these challenges and ensure they receive the care they need, patient engagement partners play a crucial role.

Patient engagement partners work closely with patients to navigate insurance options, understand the available benefits, and address any coverage-related questions or concerns. By doing so, they empower patients to make informed decisions about their healthcare and ensure they receive the necessary treatments.

These patient engagement partners also help patients determine whether they qualify for copay assistance programs from drug manufacturers. This assistance is especially vital for patients needing immediate treatment as it speeds up the process of getting the financial support needed for their treatment.

Dedicated field reimbursement managers (FRMs) play a crucial role in bridging the gap on both sides of the patient experience by providing valuable insights into the payer landscape. FRMs are available to educate HCPs in payer issues specific to these products so they can continue advocating for patients.

The FRMs are well-versed in navigating insurance systems and can educate HCPs on how to identify coverage options that align with patients’ treatment plans. After education sessions with FRMs, HCPs gain a clearer understanding of the intricate cost and coverage aspects associated with specialized therapies, thereby equipping them to improve the patient experience.

In recent years, patient engagement partners and FRMs have evolved to provide support to patients at even earlier stages of their treatment journey. These services extend beyond the point of diagnosis, recognizing that addressing healthcare coverage challenges is critical from the outset.

These expanded services encompass a range of assistance, including helping patients understand their insurance options, verifying eligibility and assisting with prior authorizations. By engaging with patients early in their journey, these partners and FRMs help prevent potential coverage roadblocks before they arise.

It is important to note that new and often expensive treatment plans for rare diseases commonly face initial denials from insurance providers. This can be disheartening for patients and HCPs alike, but it’s not the end of the road.

Patient engagement partners and FRMs are fully equipped to address these challenges proactively. They are dedicated to educating HCPs and office staff on payer policies, alleviating the challenges associated with unforeseen documentation requests resulting from denials. The support and expertise provided by FRMs not only expedite the process but also underscore their substantial positive impact on the overall well-being of individuals affected by rare diseases.

The future of patient engagement services in rare disease care is being shaped by advanced technologies that hold immense potential to accelerate diagnosis and treatment. Among these technologies, artificial intelligence (AI) and natural language processing (NLP) stand out as game-changers.

AI and NLP have emerged as powerful tools for rare disease diagnosis. As an example, in testing, an AI technology that harnesses medical records, patient-reported data and genetic information to assist in symptom recognition achieved a diagnostic accuracy rate of 79% for rare diseases.

Machine learning algorithms can analyze vast datasets, identifying patterns and anomalies that might elude human experts. This means that AI can assist in recognizing rare disease symptoms more quickly and accurately, potentially leading to earlier diagnoses.

AI-driven predictive analytics can also tailor treatment plans to individual patient needs. By considering a patient’s unique genetic makeup, medical history and lifestyle factors, AI can recommend the most effective and personalized treatment strategies. This not only improves treatment outcomes but also minimizes potential adverse effects, enhancing the patient’s quality of life.

Using AI-powered services equipped with NLP capabilities offers new avenues for patient communication and education. Patients can engage in real-time conversations that are assisted by these technologies to detect confusion, equip HCPs with the most appropriate actions, and allow information to be delivered understandably. This not only empowers patients with knowledge but also fosters a sense of support and guidance throughout their treatment journey.

Another advantage of these technologies is their potential for identifying patients at high risk of discontinuing treatment, enabling interventions by HCPs to tailor support and help ensure uninterrupted access to the necessary treatment.

The power of collaboration in rare disease care

In the pursuit of patient-centric rare disease care, partnerships have arisen as a vital driver of progress. These collaborative endeavors are pivotal in paving the way for a more efficient, supportive, and accessible patient journey.

Through these partnerships, the diagnosis and treatment journey of rare disease care can be better traversed. Patients benefit from simplified access to specialists, guidance for treatment options, and enhanced engagement opportunities.

These alliances allow pharmaceutical companies to empower patients and HCPs, fostering active participation and navigation of care options, ultimately resulting in enhanced treatment adherence, better overall experiences and improved outcomes.

Nareda Mills is Global President of Patient Solutions at Inizio Engage.

FDA. Rare Diseases at FDA. Webpage. Updated 12/13/2022. Accessed March 5, 2024. 

https://www.fda.gov/patients/rare-diseases-fda

Barriers to Rare Disease Diagnosis, Care and Treatment in the US: A 30-Year Comparative Analysis. 

 PDF. November 19, 2020. Accessed March 5, 2024. 

https://rarediseases.org/wp-content/uploads/2020/11/NRD-2088-Barriers-30-Yr-Survey-Report_FNL-2.pdf

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Navigating the complex landscape of healthcare coverage can be an intimidating task, especially for patients with rare diseases for which treatments often come with a high price tag. 