Blockchain-Based Innovations for Population-Based Registries for Rare Neurodegenerative Diseases

Marco Piccininni,Tobias Kurth,Jessica L Rohmann,Giancarlo Logroscino

doi:10.3389/fbloc.2020.00020

Abstract

Rare diseases are difficult if not impossible to study outside of population-based registries. Particularly in the context of rare neurodegenerative diseases characterized by case heterogeneity, difficult differential diagnosis by specialists and small numbers of patients, registries make otherwise unfeasible incidence studies cost-effective and manageable. Building up and maintaining such registries is challenging and requires strong, active and collaborative networks. Centralization around a leading institution provides structure and consistency, but this single-site storage leads to inefficiency and bottlenecks and is prone to failures, attacks, and manipulation. Furthermore, a substantial amount of trust is required between parties sharing data in a traditional registry. Patients are increasingly reluctant to share data with regular news reports about healthcare data breaches and underfunded rare disease specialists are also hesitant to exchange with the leading institution out of fear that the low numbers of patients may seek treatment elsewhere. A lack of electronic health records and information system interoperability in certain settings leads to information silos and only further exacerbate the other issues. Blockchain technology may provide unique, innovative solutions to many of these challenges. Specifically, through digital trust and the use of an immutable distributed ledger, automated data transaction processing, guaranteed integrity, enhanced security, blockchain technology seems to be perfectly suitable to optimize current population-based rare neurodegenerative disease registry construction and maintenance.

Highlights

The establishment and maintenance of a population-based registry is a joint effort of a network of facilities, general practitioners, patients’ associations, and other stakeholders, with the goal of identifying all cases of a disease of interest in a well-defined geographic area and time interval.Population-based registries are important in the context of rare neurodegenerative disorders (Rooney et al, 2017)
Automated data transaction processing; collective validity checks automated by the nodes in a peer-to-peer network Blockchain on which the data is stored is immutable and unforgeable; guarantees integrity and temporal resistance; real-time updates of the shared ledger across all the computers in the network Encryption and digital signature technology offers high security standard Stored information readily shareable with nodes of the network; improved transparency based on digital trust
A higher level, in which blockchain technology would be used to store data from electronic health records routinely collected in clinical practice that would integrate in real-time with the population-based registry database

Summary

Introduction

The establishment and maintenance of a population-based registry is a joint effort of a network of facilities, general practitioners, patients’ associations, and other stakeholders, with the goal of identifying all cases of a disease of interest in a well-defined geographic area and time interval.Population-based registries are important in the context of rare neurodegenerative disorders (Rooney et al, 2017). This is especially relevant for rare neurodegenerative population-based registries, in which the willingness of both healthcare providers and patients to share data is essential.

Results

Conclusion