In the rare disease space, Medical Science Liaisons play a vital role in ensuring that healthcare providers have access to accurate, up-to-date information, and patients receive the best possible care. By embodying these best practices, MSLs can contribute to advancements in rare disease research, facilitate better patient outcomes, and foster collaboration among stakeholders in the healthcare ecosystem. Their commitment to scientific rigor, ethical conduct, and ongoing learning makes them indispensable in the pursuit of improved treatments and ultimately, the well-being of rare disease patients.
Limited Patient Population – Rare diseases, by definition, affect a small percentage of the population. This limited patient pool can make it more challenging to conduct clinical trials, gather data, and develop treatment options. MSLs in the rare disease space need to be intimately familiar with the specific disease’s prevalence, diagnosis, and treatment landscape, as well as be prepared to work with fewer healthcare professionals who specialize in that area.
Complex Diagnosis and Management – Rare diseases often have complex diagnostic criteria and management guidelines. MSLs must stay updated on these intricacies to provide accurate information to healthcare providers. They may also need to assist in the differential diagnosis process, as many rare diseases share symptoms with more common conditions.
Emerging Therapies and Limited Treatment Options – In many rare diseases, treatment options are limited or, in some cases, nonexistent. MSLs must be well-versed in the latest research and emerging therapies, as they often work with healthcare providers who are on the cutting edge of treatment exploration. This requires a deep understanding of investigational therapies, clinical trials, and compassionate use programs.
Advocacy for Orphan Drug Development – Rare disease MSLs often play a role in advocating for the development of orphan drugs, which are pharmaceuticals designed specifically to treat rare conditions. They may collaborate with regulatory agencies, patient advocacy groups, and healthcare providers to raise awareness about the need for rare disease research and drug development.
Patient-Centric Approach – Given the unique challenges faced by rare disease patients and their families, MSLs in this space often take a more patient-centric approach. They may actively engage with patient advocacy organizations, participate in support groups, and offer educational resources to empower patients and their caregivers.
Ethical Considerations – Because of the rarity of these diseases, MSLs may have even closer relationships with healthcare providers and patients. This necessitates a heightened awareness of ethical considerations, including potential conflicts of interest, privacy concerns, and the importance of transparency in interactions.
Real-World Evidence Gathering – MSLs in rare diseases frequently engage in gathering real-world evidence (RWE) to better understand disease progression, treatment outcomes, and patient experiences. This can be particularly important in the absence of extensive clinical trial data.
Cross-Functional Collaboration – Collaborative efforts with other stakeholders, such as academic researchers, patient advocacy groups, and healthcare institutions, are often more critical in the rare disease space. MSLs may need to facilitate and coordinate these partnerships to advance research and improve patient care.
Market Access Challenges – Rare disease treatments can be expensive, and gaining market access and reimbursement can be particularly challenging. MSLs may need to provide healthcare providers with information on navigating insurance and reimbursement issues to ensure patients can access needed therapies.
In summary, MSLs in the rare disease space face unique challenges related to limited patient populations, complex diagnoses, emerging therapies, advocacy efforts, and the need for heightened ethical considerations. They play a critical role in bridging the gap between cutting-edge research and the practical needs of healthcare providers and patients, ultimately contributing to advancements in the understanding and treatment of rare diseases.
About the Author:
Jill Boyett, PharmD, CPh
Dr. Jill Boyett is a Medical Science Liaison for Chiesi Rare Diseases, covering the hematology and immunology portfolios. Dr. Boyett is new to the role, with only a year in the biopharmaceutical Medical Affairs arena. However, she is passionate about her role in the Rare Diseases space because she feels she is making an impact in the lives of the patients and the families, similar to her role as a pharmacist, but on a much larger and more impactful scale.
She was previously a Hematology/Oncology Clinical Pharmacist for the University of Florida in Jacksonville, working closely with adults who were undergoing outpatient chemotherapy. Prior to that, she held positions in Regulatory Affairs, Clinical Research, and other supportive roles in the pharmacy department at UF Jacksonville. She graduated with her Doctorate of Pharmacy from the University of South Carolina in 2003. Her career as a pharmacist spans over 20 years and includes roles in retail pharmacy, hospital pharmacy, specialty compounding, consulting, and various leadership positions.
Dr. Boyett takes her responsibility of engaging with key opinion leaders, community-based organizations, and patients very seriously. Every insight collected could be a valuable tool in advancing care, identifying undiagnosed patients, and discovering new modalities to treat and possibly cure a rare disease.