Life Sciences R&D & Medical

The pivotal role of medical affairs in rare disease leadership

By Bora Erdemli, and Rina Farah

Feb. 16, 2024 | Article | 4-minute read

The pivotal role of medical affairs in rare disease leadership

In the complex tapestry of healthcare, the domain of rare diseases represents a frontier laden with both grave challenges and profound opportunities. Within this domain, medical affairs stands as a pivotal force, equipped to forge a path through the labyrinth of scientific, regulatory and market access challenges. The role medical affairs plays is multifaceted in leading the charge against rare diseases—underpinning the strategies that leverage unique opportunities, overcoming prevailing barriers and articulating a clear call to action for global leadership.

The expansive opportunity for medical affairs

Rare diseases, affecting an estimated 400 million people globally, present a critical opportunity for medical affairs to lead with impact. The intricate nature of these conditions, coupled with the urgency for innovative treatments, calls for a specialized approach where medical affairs can exert considerable influence. The lack of physician familiarity with rare diseases, for example, is one area we see medical affairs being able to address. This could have a considerable positive impact on rare disease patients, as the “diagnostic odyssey” these patients currently face has them seeing an average of 7.3 specialist physicians over 4.8 years before receiving a diagnosis.


By leading education (such as in the example above), facilitating evidence generation and driving strategic collaborations, medical affairs professionals are uniquely positioned to shape the future of rare disease therapy development and delivery. 

Barriers and challenges to overcome (and how to overcome them)

Medical affairs faces an array of challenges in rare diseases. From natural history data scarcity to difficulties in patient identification, from heterogeneous regulatory landscapes to gaps in healthcare provider education—each hurdle demands a strategic response. The expertise within medical affairs to address these barriers is unparalleled—a blend of scientific insight, regulatory savviness and market understanding.


By leading cross-functional teams, shaping policy and guidelines and pioneering patient-centric programs, medical affairs can turn challenges into actionable pathways for progress. This entails not only interpreting complex data but also translating it into meaningful strategies that resonate with all stakeholders involved in rare disease care. The financial implications of rare diseases—which encompass treatments, quality of life decrements and mortality costs—is one crucial focus. 

6 strategies for medical affairs to address rare disease challenges

Given its unique position, we believe medical affairs can leverage the following strategies in order to lead the charge against rare diseases: 

  1. Enhance rare disease awareness and education: Medical affairs must be the forerunner in educating health care professionals (HCPs), payers and regulatory bodies about rare diseases. Education, like global awareness campaigns and HCP education, must happen much earlier than traditional development to establish the burden of disease and unmet need clearly to foster an environment where rare diseases are recognized and treated promptly.
  2. Champion patient-centric evidence generation: Medical affairs needs to emphasize the generation of real-world evidence that accurately reflects the patient journey including a focus on patient-reported outcomes. This includes partnering with key opinion leaders (KOLs) for evidence generation and supporting investigator-sponsored studies. This evidence is vital to informing clinical trial design, regulatory submissions and payer negotiations.
  3. Foster specialized stakeholder engagement: Medical affairs develops rare KOLs into clinical trial investigators. By aligning with KOLs, patient advocacy groups and specialized HCPs, medical affairs can create a coalition for change, advocating for the needs of those with rare diseases and ensuring that patients’ voices are heard in all phases of drug development.
  4. Navigate access and reimbursement challenges: Medical affairs supports the creation of innovative access strategies through early and ongoing discussions with payers to understand requirements for demonstrating the value of treatment to address unique pricing and reimbursement challenges of orphan drugs. This includes advocating for policies that support sustainable pricing models and fair access for rare disease therapies.
  5. Digitally enabled field medical engagement: Field medical engagement is crucial, but the conventional approach is not enough to educate and support a broad range of healthcare providers in the nuances of emerging therapies. This program ensures that the latest advancements in treatment are understood and optimally utilized in clinical practice at scale.
  6. Leverage digital health solutions: Medical affairs should pioneer the integration of digital health solutions that can dramatically improve the reach and efficiency of patient care in rare diseases. This includes using telemedicine to connect patients with rare disease specialists and digital platforms for patient support and disease monitoring.

The road ahead for medical affairs

With 95% of rare disease without an FDA-approved treatment, the time is ripe for medical affairs to lead with boldness and vision. The vast opportunity hinges on the ability of medical affairs to integrate scientific insight with patient advocacy and ensure accessible treatments to those in need. As stewards of medical innovation, medical affairs professionals must galvanize their organizations to embrace these strategies and accelerate the development and approval of therapies to the patients most in need.

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