Amr A1 2, Hinderer M3, Griebel L3, Deuber D4, Egger C4, Sedaghat-Hamedani F1 2, Kayvanpour E1 2, Huhn D5, Haas J1 2, Frese K1 2, Schweig M6, Marnau N7, Krämer A8, Durand C9, Battke F9, Prokosch HU3, Backes M7 8, Keller A10, Schröder D4, Katus HA1 2, Frey N1 2, Meder B11 12 13
Background: The development of Precision Medicine strategies requires high-dimensional phenotypic and genomic data, both of which are highly privacy-sensitive data types. Conventional data management systems lack the capabilities to sufficiently handle the expected large quantities of such sensitive data in a secure manner. PROMISE is a genetic data management concept that implements a highly secure platform for data exchange while preserving patient interests, privacy, and autonomy.
Methods: The concept of PROMISE to democratize genetic data was developed by an interdisciplinary team. It integrates a sophisticated cryptographic concept that allows only the patient to grant selective access to defined parts of his genetic information with single DNA base-pair resolution cryptography. The PROMISE system was developed for research purposes to evaluate the concept in a pilot study with nineteen cardiomyopathy patients undergoing genotyping, questionnaires, and longitudinal follow-up.
Results: The safety of genetic data was very important to 79%, and patients generally regarded the data as highly sensitive. More than half the patients reported that their attitude towards the handling of genetic data has changed after using the PROMISE app for 4 months (median). The patients reported higher confidence in data security and willingness to share their data with commercial third parties, including pharmaceutical companies (increase from 5 to 32%).
Conclusion: PROMISE democratizes genomic data by a transparent, secure, and patient-centric approach. This clinical pilot study evaluating a genetic data infrastructure is unique and shows that patient’s acceptance of data sharing can be increased by patient-centric decision-making.
Keywords: Big data democratization; Data security; Digital health; Genetic data transfer; Privacy; Whole-genome sequencing.
- Institute for Cardiomyopathies, Department of Medicine III, University of Heidelberg, Im Neuenheimer Feld 410, 69120, Heidelberg, Germany.
- DZHK (German Centre for Cardiovascular Research), 69120, Heidelberg, Germany.
- Chair of Medical Informatics, Friedrich Alexander University Erlangen-Nürnberg, 91058, Erlangen, Germany.
- Chair for Applied Cryptography, Friedrich-Alexander University Erlangen-Nürnberg, 90429, Erlangen, Germany.
- Department of General Internal Medicine and Psychosomatic, University Hospital Heidelberg, 69120, Heidelberg, Germany.
- Backes SRT GmbH, 66111, Saarbrücken, Germany.
- CISPA Helmholtz Center for Information Security, 66123, Saarbrücken, Germany.
- Chair for Information Security and Cryptography, Saarland University, 66123, Saarbrücken, Germany.
- CeGaT GmbH, Center for Genomics and Transcriptomics, 72076, Tübingen, Germany..
- Chair for Clinical Bioinformatics, Saarland University, 66123, Saarbrücken, Germany..
- Institute for Cardiomyopathies, Department of Medicine III, University of Heidelberg, Im Neuenheimer Feld 410, 69120, Heidelberg, Germany. firstname.lastname@example.org.
- DZHK (German Centre for Cardiovascular Research), 69120, Heidelberg, Germany. email@example.com..
- Stanford Genome Technology Center, Stanford University School of Medicine, Palo Alto, CA, 94305, USA. firstname.lastname@example.org.