A digital consent procedure for rare disease - a prerequisite for Sweden´s contribution to 1+MG and other initiatives

Purpose and goal:

The aim of Genomic Medicine Sweden Rare Diseases (GMS-RD) is that all patients in Sweden with a suspected rare genetic disease should have access to the best genetic investigation. Since these conditions are so rare, national and international data sharing of genetic data and associated metadata is crucial for improved diagnostics and in some cases for treatment.Such data sharing is in Sweden only possible within research studies, and we intend to build a system for electronic consent to maximise the opportunity for Swedish families to participate.

Expected results and effects:

Over 10,000 RD-patients have already undergone whole genome sequencing (WGS) within the Swedish healthcare system, and thousands are added every year. We expect that the majority of these patients will be interested in participating in a study to enable data sharing, when we build a simple, dynamic and informative electronic consent system. This in turn will lead to improved diagnostics, opportunities for research and development of new treatments.

A specific objective is to contribute to Sweden´s ambition to make genetic data accessible within the EU initiative "1+ Million Genomes" (1+MG) and the future European Health Data Space Approach and implementation: 1. Adaptation of existing technical solution for an electronic consent database with BankID signature (eIC).

2. Development of API solutions to link the consent database to clinical genetic databases. 3. Web portal development for clear and dynamic patient information. 4. Funding of staff to contact patients and their guardians to obtain consent.