While there is a growing recognition that the world of rare disease is different and comes with unique challenges, the body of knowledge around how to address those challenges is very much a work in progress. At rareLife solutions, we’re helping to build that knowledge base by sharing what we’ve learned from our work with patients, advocates, caregivers, healthcare professionals, treatment industry leaders, and beyond. We share our thinking with the community here and via email. To be added to our email list and get future resources directly in your inbox, please get in touch.
Individual privacy has come under increasing scrutiny since the passage of the General Data Protection Regulation. While patient privacy is crucial in all publications, the challenge is particularly severe in rare diseases where, by definition, there are very few patients, thereby increasing the risk of identification.
We searched PubMed and Google for articles on patient privacy in rare diseases. Search terms included “rare” OR “orphan” AND “disease” AND “privacy” and were restricted to those published in English. Results: Two authors (PP, MN) independently evaluated the results for relevance to the topic, and any disagreements were resolved through discussion with all authors. The selected documents were analyzed further. We identified 5 high-risk situations in which the privacy of patients with rare diseases can be breached:
- Photos: Rare diseases are poorly understood. Consequently, patient photos serve a critical role in education, are routinely displayed at scientific meetings, and are published in clinical articles. However, modern feature- recognition technology makes it possible to identify individuals shown.
- Geolocation: Regulatory agencies often require data on patients from their own country to approve new interventions. When there are so few patients, publishing these data can be sufficient to identify the individuals.
- Registries: Patients often participate in rare disease registries. Publishing data from these registries, taken with other patient characteristics, can possibly identify the individuals.
- Reidentification: The technology available to identify individuals through cross-matching anonymized data from multiple sources can be used to identify individuals with rare disease in publications since the number of patients is so small.
- Unintentional disclosure: In patient/caregiver perspectives authored by patients/caregivers, which are receiving growing interest, it is not always clear to the authors that they are voluntarily giving up their privacy.
In the following video, lead author Priyanka shares highlights from the author team’s research: