Every pharmaceutical company conducts research to better understand patients. 

Then, more often than not, those insights live on a shared drive with little or no attention paid to the wealth of information contained in the report. 

But what if they could do more? 

What if the same research that informs a launch strategy or disease education initiative could also contribute to the scientific understanding of a disease? And what if new technologies could help us extend those insights even further? 

At Fulcrum Research Group, we’ve had the privilege of partnering with sponsors, clinicians, patient advocacy organizations, and patient communities to better understand the lived experiences of people affected by rare diseases. In several cases, those collaborations have extended beyond commercial decision-making to become peer-reviewed publications and presentations at leading scientific conferences. 

That distinction matters—not because publication is the goal, but because it reflects the rigor of the work. 

The Patient Journey Is More Than a Commercial Exercise 

Patient journey research is often viewed as a tool for commercialization. It helps teams understand diagnostic delays, treatment decisions, unmet needs, and opportunities to improve patient support. 

Increasingly, however, these studies are contributing to broader conversations across the healthcare ecosystem. 

Some examples of our collaborations include: 

• The diagnostic odyssey experienced by patients with Acid Sphingomyelinase Deficiency (ASMD), published in Molecular Genetics and Metabolism Reports (2024)  

• The patient journey in Late-Onset GM2 Gangliosidoses, published in Molecular Genetics and Metabolism Reports (2023)  

• Patient journey in Alport Syndrome presented at the American Society of Nephrology’s Kidney Week (2020)  

• The diagnostic journey of patients with Mucopolysaccharidosis I, published in Molecular Genetics and Metabolism Reports (2016) 

While each project focused on a different disease, they shared a common purpose: capturing the experiences of patients, caregivers, and healthcare professionals in ways that could inform both scientific understanding and strategic decision-making. 

Looking Beyond Commercial Questions 

The most valuable patient journey studies don’t simply answer questions about why patients switch treatment or which messages resonate most.  

They answer deeper questions: 

• Why does diagnosis take years?  

• Where are patients falling out of the care pathway?  

• Which healthcare providers have the ability to expedite diagnosis?  

• What patient burdens remain invisible in clinical data?  

• How can healthcare systems better support patients and caregivers?  

The answers create value across Medical Affairs, Clinical Development, Commercial, Market Access, and Patient Services.  

One Challenge Remains: Capturing the Full Care Ecosystem 

At Fulcrum, we’ve learned that no single patient journey study captures every perspective. 

Budgets, timelines, and recruitment realities often require difficult tradeoffs (particularly when working in ultra rare diseases where large sample sizes are often not feasible). A study may include: 

• Patients and specialists but not community physicians.  

• Caregivers but not siblings, adult children, or extended family member 

• Treating HCPs, but not nurses, pharmacists, genetic counselors, social workers, office staff, and care coordinators—each with valuable insights into the patient experience—are often left out simply because there isn’t enough time or budget to include everyone. 

As researchers, we’ve accepted these limitations because high-quality primary research will always be the foundation of meaningful patient insights. 

But today, we have an opportunity to do more. 

Patient Journey Research 2.0: Expanding the Conversation with AI 

Advances in AI are opening new possibilities for patient journey research 

At Fulcrum, we’re exploring how AI-powered Synthetic Users can complement traditional research by simulating additional stakeholder perspectives that are often absent from a study. 

Imagine conducting in-depth interviews with actual patients and specialists, then using validated synthetic personas to explore questions such as: 

• How might an infusion nurse describe barriers to adherence?  

• What challenges would a community physician identify that differ from those of a specialist?  

• How does the diagnostic experience look through the eyes of a spouse, sibling, or adult child?  

• What friction do pharmacists or care coordinators encounter that patients rarely see?  

• How might office staff describe administrative barriers that delay treatment?  

These AI personas do not replace primary research, nor do they represent scientific evidence on their own. Rather, they offer a scalable way to generate hypotheses, identify blind spots, and prioritize areas for deeper investigation. 

For organizations facing budget and timeline constraints, Synthetic Users can help broaden the lens of a patient journey study by incorporating perspectives that might otherwise be excluded. 

Connecting Evidence to Action 

The publication of research should not be the end. 

The real opportunity lies in translating patient evidence into better decisions. 

That means using patient insights to shape: 

• Disease awareness initiatives  

• Evidence generation strategies  

• Product positioning  

• Launch planning  

• Patient support programs  

• Medical education  

• Commercial strategy  

When research informs both scientific understanding and business strategy, organizations create value that extends well beyond a single project. 

Looking Ahead 

Patient-centered research is evolving.  

For years, the focus was on collecting the right data. Today, the opportunity is to generate insights that are rigorous enough to influence science while embracing new technologies that expand our understanding of the patient experience.  

At Fulcrum, we believe the future isn’t about replacing patients with AI. It’s about combining rigorous primary research with responsible AI tools to create a more complete picture of the healthcare ecosystem. 

Patients remain at the center of every meaningful journey. But now we have the opportunity to better understand everyone who surrounds them—and that can lead to smarter evidence, better decisions, and ultimately, better care. 

Find out more about our Market Research and Synthetic Users offerings.