By Marcelo Vaz, Vice President of Medical Services at TMC
The rare disease medical information landscape is markedly different from that of prevalent conditions. Small patient populations, limited clinical trial data and minimal details about the disease’s natural history, prognosis and related treatments all contribute to significant gaps in evidence.
Despite their positive impact, novel therapies that alter the natural history of a disease, such as extending survival in conditions once deemed fatal in early childhood, may further exacerbate the knowledge gaps as both clinicians and patients navigate uncharted territory. Sparse medical literature, clinical expertise concentrated in just a handful of reference centres globally and insufficiently documented patient experiences also compound the challenge.
This scarcity of information makes it difficult for newly diagnosed patients to find accessible information, while physicians and even specialised treatment centres may struggle to adjust disease management.
In this context, the medical information function evolves from a mere repository of product details into a critical source of support across the disease spectrum. Biotech and pharmaceutical companies must, therefore, address inquiries ranging from basic product questions to complex concerns about treatment outcomes and disease progression.
The challenge is how to deliver this information in a way that ensures strict compliance with regulatory standards while also providing a humanised, accessible explanation — bridging the gap between clinical language and everyday understanding.
Understanding diverse information needs
An ‘inquirer-centric’ approach recognises the diversity of information seekers and understands that every inquiry is unique. As such, responses must be tailored to the individual asking the question — whether the inquiry comes from a caregiver, a healthcare provider or a patient.
Key to this approach is the differentiation among stakeholder groups. For example, a key opinion leader (KOL) working at a reference centre requires emerging data, research methodologies and nuanced clinical interpretations. In contrast, a general practitioner might benefit more from practical advice on symptom recognition, patient referral pathways and product administration support. Meanwhile, patients and caregivers need clear, accessible language that emphasises day-to-day management and supports their emotional needs. Even though the core scientific information remains consistent, how it is framed and delivered must be adapted accordingly.
While the benefits of an inquirer-centric approach are clear, its implementation is not without challenges.
Although most international inquiries arrive in English, companies must be prepared to address questions in any language, often partnering with local language experts to maintain accuracy and appropriateness. However, rare disease patient populations are often small and dispersed globally, making it impractical to maintain local representatives in every region. Instead, companies must rely on global networks and technology to ensure consistent support across multiple languages.
The variability in literacy and familiarity with medical terminology among inquirers also necessitates careful language adaptation. Medical information teams may need to develop multiple versions of answers for common inquiries, each calibrated to different audience needs. More importantly, they must be able to detect — from the nature and phrasing of inquiries — what level of detail and technical language is appropriate for each individual inquirer.
Additionally, the need for 24/7 coverage and collaboration with various patient access programmes (early access, expanded access and patient support) requires strategic partnerships with service providers to ensure continuous support — particularly for smaller biotech or pharmaceutical companies.
Balancing informative content with regulatory-compliant messaging can be difficult. The regulatory framework governing medical information is stringent, and any deviation (however slight) can have significant repercussions. As such, every response must be meticulously crafted to ensure it is scientifically sound and remains within the bounds of compliance while still being empathetic to the unique circumstances of each inquirer.
Despite these challenges, the inquirer-centric approach presents numerous opportunities for medical information dissemination, especially in the rare disease field where inquiries often exceed what a standard ‘frequently asked questions’ document can address.
Best practices for tailoring medical information
By taking an inquirer-centric approach and tailoring responses to the specific needs of each inquirer, biotech and pharmaceutical companies can significantly enhance the support they provide.
Developing best practices for tailoring responses begins with understanding the audience. As such, cross-disciplinary collaboration is essential to the inquirer-centric model. Involving regulatory experts, clinical researchers and even patient advocacy groups ensures that responses are compliant, contextually relevant and empathetic.
This collaborative framework enables first-tier support agents to manage routine queries while more complex questions are escalated to specialised medical experts. When a question requires escalation, it must be managed by a medical expert with deep expertise who can communicate complex information in a clear, non-promotional manner. This step is fundamental to maintaining regulatory compliance and building the trust of the inquirer — underscoring the importance of a responsive and adaptable support system that can cater to highly specialised questions without compromising clarity or empathy.
Incorporating systematic feedback loops allows companies to analyse the types of inquiries received and the responses provided, enabling them to refine their communication strategies over time and ensure future inquiries are met with even more tailored and effective support.
Technology also plays a crucial role in making the inquirer-centric approach possible.
Advanced data systems allow inquiries to reach centralised expertise regardless of geographic origin, supporting real-time communication and rapid translation of complex medical information into multiple languages. This connectivity is critical when addressing queries from diverse regions — from Mexico to Germany to China. By using both technological and human translation services, biotech and pharmaceutical companies can overcome language barriers and ensure accurate, compliant information reaches every inquirer.
Ultimately, this approach is about more than just answering questions — it is about fostering a connection, building trust and ensuring every patient, caregiver and healthcare professional feels heard and supported. Clear and tailored information empowers patients and caregivers to participate actively in care decisions while healthcare providers gain confidence in clinical management. For the broader healthcare ecosystem, effective knowledge transfer accelerates collective learning about rare conditions.
Embracing an inquirer-centric approach is key to addressing the disconnect between medical data and human experience, ensuring every inquiry contributes to a more informed and compassionate dialogue in rare diseases.
This article first appeared in Life Sciences Review Europe.