Capturing Real-World Rare Disease Patient Journeys: Are Current Methodologies Sufficient for Informed Healthcare Decisions?

OBJECTIVES: Decision-makers are increasingly prioritizing patient perspectives and real-world outcomes to inform access and care guidelines. Data on disease journey experiences can be especially challenging to collect and evaluate for rare conditions. This study assessed the body of evidence for rare disease patient journeys.

METHODS: A systematic literature review (SLR) evaluated study methodologies, perspectives, and outcomes reported on real-world rare disease patient journeys. Searches in PubMed and Google Scholar targeted English-language articles and congress proceedings published between January 1, 2014, to April 30, 2024. Eligible articles included rare disease patients, caregivers, or healthcare providers and keywords 'Journey,' 'Path,' or 'Odyssey.' Two independent reviewers assessed eligibility and abstracted data. Descriptive analyses and quality assessments were conducted.

RESULTS: Thirty-one publications met inclusion criteria, involving 296,548 participants across more than 600 rare diseases. Most studies queried patients (87%), followed by caregivers (32%) and providers (10%). The predominant study design was prospective observational (61%). Europe was the most common study location (45%). Common methodologies were interviews/focus groups (39%) and surveys (29%). Frequently studied journey stages were ‘Pre-diagnosis/Screening’ (97%) and ‘Diagnosis’ (84%), while ‘Disease Awareness’ (16%) and ‘Treatment Adherence’ (6%) were less common. Overall, 166 outcomes were reported; Frequent outcomes included ‘Healthcare Resource Utilization’ (94%), ‘Symptoms’ (74%) and ‘Time-to-Diagnosis’ (74%). Fewer studies reported ‘Costs’ (23%), ‘Productivity,’ (16%) or ‘Caregiver/Family Burden’ (16%). Due to observational designs, most studies (74%) were assessed as ‘low’ quality.

CONCLUSIONS: The body of evidence identified in this SLR focused predominantly on pre-diagnosis and diagnosis patient journey stages queried via qualitative methods and surveys. While patient symptoms, time-to-diagnosis, and resource utilization were commonly reported, evidence gaps included treatment adherence, productivity, and caregiver burden. Longitudinal patient journey assessments to collect real-world care and treatment burden outcomes, including caregiver perspectives, can enhance clinical and access policy decision-making in rare diseases.