10 Best Practices in Conducting Ethnography in Rare Disease Population

Rare disease patients face unique challenges that are often overlooked or misunderstood by those not directly affected. Through the voice of the patient, we can understand their experiences, struggles, and hopes to gain invaluable insights that shape the development of treatments, improve healthcare outcomes, and deepen our understanding of living with these rare conditions. By focusing research efforts on listening to the patient voice, we ensure the research is patient-centric and driven by those it seeks to help.

One of the most fulfilling experiences for the moderators who make up KJT’s Qualitative Center of Excellence has been conducting in-home ethnographies with individuals living with rare diseases. During one unforgettable year, we traveled across the country to learn more about a range of rare blood diseases. We had the privilege of visiting a wonderful caregiver and child in their high-rise apartment in Manhattan, connecting with two inspiring patients at a retirement home in sunny Miami, and even enjoying a delightful stay at a charming llama farm in Wako, Texas.

Each of these moments were deeply personal and profound—an opportunity to sit in the homes of patients and caregivers who, despite their often-isolating experiences, opened up to share their stories. Hearing their stories and physically seeing the adjustments they’ve made to their lives to live resiliently through their treatment journey was a gift.

These personal discussions are a compelling way to listen to the patient voice, providing insights that transcend mere statistics and clinical data—enabling their lived experiences to influence how we comprehend and tackle care for patients with rare diseases.

Advantages and Disadvantages of Ethnographic Research

While ethnographic research is considered a gold standard in qualitative research, it has significant advantages and challenges.

Ethnography provides unparalleled depth and context, allowing researchers to immerse themselves in the patient’s world, capturing nuances that surveys or focus groups can’t. It enables a more authentic understanding of the patient experience—seeing their environment, daily routines, and how the condition impacts their life on a personal level. This rich, qualitative data can help uncover hidden struggles and unmet needs, and lead to insights that drive more effective treatments and patient-centric care strategies.

However, there are also challenges. Ethnographic studies are often time-consuming and resource-intensive, requiring extensive travel and one-on-one interaction. The intimacy of these settings may also introduce biases or emotional complexities that could influence the data. Conducting this type of research among patients with a rare disease further compounds these challenges; access to patients is often limited, making it difficult to represent a diverse and representative sample. Despite these challenges, the value of ethnographic research in truly understanding the voice of patients with rare diseases cannot be overstated.

Best Practices in Conducting Ethnography with Patients Who Have a Rare Disease

Conducting ethnography with patients diagnosed with a rare disease requires a thoughtful, empathetic approach, given the sensitive nature of the research and the unique challenges these patients face. Here are some best practices from KJT’s Qualitative Center of Excellence to ensure the research is both ethical and effective:

1. Build Trust and Rapport: Creating a meaningful connection with patients and caregivers is essential. Many have experienced feeling misunderstood or overlooked, so showing genuine care, respect, and understanding of their unique experiences is critical to gaining impactful insights. Take a moment to really listen, be open, and make sure they feel at ease sharing their stories with you.
2. Respect Privacy and Boundaries: Given the deeply personal nature of their experiences, always be mindful of privacy. Clearly communicate the purpose of the research and how their information will be used. Ask for informed consent and respect boundaries the patient or caregiver sets regarding what they’re willing to share.
3. Be Culturally Sensitive: Rare disease patients come from diverse backgrounds, each with unique cultural contexts that influence their healthcare decisions and disease experiences. Adapt your approach to accommodate these cultural factors and avoid making assumptions.
4. Be Flexible and Adaptable: Living with a rare disease often brings unpredictability into a patient’s life. It’s important to be ready for changes in schedules, unexpected events, and moments of emotional difficulty. Flexibility and adaptability will help build stronger connections but also make the research process smoother and more enjoyable for everyone involved.
5. Engage in Active Listening: Ethnographic research relies on the ability to truly hear and understand the patient’s perspective. Use open-ended questions and give patients the space to express themselves fully. Avoid rushing to conclusions or interpreting their experiences too quickly let their voices come through naturally.
6. Observe the Environment: Rare disease patients often spend significant time in their homes or healthcare environments. Observing their surroundings—how they manage their illness, interact with family members, and cope with day-to-day challenges—adds another layer of context to their stories. These observations can reveal details that patients may not explicitly mention but are critical to understanding their experience.
7. Be Empathetic and Non-Judgmental: Ethnographic research often reveals intense emotional and physical struggles. Be prepared to offer empathy and support, but also remain neutral and non-judgmental. Your role is to listen and understand, not to offer solutions or judge their decisions.
8. Respect the Time Commitment: Participating in ethnographic research can be demanding for patients, especially those with rare diseases. Be mindful of their time, ensure that sessions are not overly long or intrusive, and always thank them for their participation. The experience should feel like a collaborative partnership, not a burden.
9. Ensure Data Confidentiality: Since rare disease patients can be a vulnerable group, protecting their privacy and confidentiality is paramount. Securely store all personal data and share findings only in ways that preserve anonymity and avoid any risk of identification.
10. Follow-up and Continuous Engagement: Ethnographic research shouldn’t end after a single visit. Consider establishing ongoing relationships with the participants for follow-up interviews or check-ins. This can provide richer data and allow patients to share evolving thoughts or new developments in their treatment journey.

When researchers embrace these best practices, they not only respect the experiences of rare disease patients but also create meaningful contributions that truly amplify the voices of those who are often overlooked.

At KJT, we make it a priority to generate research insights that improve the lives of patients. During rare disease month, and all year long, we invite you to consider what you can do to employ these strategies to ensure the voice of the patients living with rare diseases is truly heard so it can shape their future care. Let’s discuss how we can take rare disease research further, together.

Author

Marilisa Beatty, MA

Qualitative Research, VP

Marilisa is a seasoned qualitative researcher with over 16 years in global healthcare research. She has shaped strategies for top pharmaceutical brands and emerging biotech firms. She is known for her problem-solving skills, innovative research methods, and personable rapport with healthcare professionals, patients, and caregivers.