A Rare Disease Patient Registry

A registry for epidermolysis bullosa (EB) had been designed by the Epidermolysis Bullosa Research Partnership (EBRP). EB is a debilitating and sometimes fatal genetic disorder that causes severe blistering of the skin and mucous membranes. It affects up to 50,000 people in the U.S. and about 500,000 globally. The registry aims to provide essential information to patients, guide them to appropriate medical services, and facilitate research by consolidating patient data, thereby attracting medical researchers to devise treatments.

The governance structure of the registry presents several questions. Michael Hund, CEO of EBRP, must decide whether to establish it as a for-profit entity, leveraging venture capital to scale rapidly, or as a non-profit, following the traditional model for medical charities. This decision poses implications for patients' willingness to donate data, as they may perceive for-profit motives negatively. Additionally, the governance structure will need to address complex issues of privacy and consent, particularly around the collection and use of genetic data. Each patient's DNA is unique, raising inevitable privacy concerns even when data is anonymized. Ethical dilemmas arise regarding how detailed genetic information, which could reveal susceptibilities to various other conditions, is handled and whether it might affect patients' health insurance or employment prospects.