Controlling my genome with my smartphone: first clinical experiences of the PROMISE system.

Big data democratization Data security Digital health Genetic data transfer Privacy Whole-genome sequencing

Journal

Clinical research in cardiology : official journal of the German Cardiac Society
ISSN: 1861-0692
Titre abrégé: Clin Res Cardiol
Pays: Germany
ID NLM: 101264123

Informations de publication

Date de publication:
Jun 2022
Historique:
received: 09 06 2021
accepted: 13 09 2021
pubmed: 26 10 2021
medline: 3 6 2022
entrez: 25 10 2021
Statut: ppublish

Résumé

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. 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. 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%). 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.

Sections du résumé

BACKGROUND 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 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 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 CONCLUSIONS
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.

Identifiants

pubmed: 34694434
doi: 10.1007/s00392-021-01942-8
pii: 10.1007/s00392-021-01942-8
pmc: PMC9151530
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

638-650

Subventions

Organisme : Bundesministerium für Bildung und Forschung
ID : 16KIS0364

Informations de copyright

© 2021. The Author(s).

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Auteurs

Ali Amr (A)

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.

Marc Hinderer (M)

Chair of Medical Informatics, Friedrich Alexander University Erlangen-Nürnberg, 91058, Erlangen, Germany.

Lena Griebel (L)

Chair of Medical Informatics, Friedrich Alexander University Erlangen-Nürnberg, 91058, Erlangen, Germany.

Dominic Deuber (D)

Chair for Applied Cryptography, Friedrich-Alexander University Erlangen-Nürnberg, 90429, Erlangen, Germany.

Christoph Egger (C)

Chair for Applied Cryptography, Friedrich-Alexander University Erlangen-Nürnberg, 90429, Erlangen, Germany.

Farbod Sedaghat-Hamedani (F)

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.

Elham Kayvanpour (E)

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.

Daniel Huhn (D)

Department of General Internal Medicine and Psychosomatic, University Hospital Heidelberg, 69120, Heidelberg, Germany.

Jan Haas (J)

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.

Karen Frese (K)

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.

Marc Schweig (M)

Backes SRT GmbH, 66111, Saarbrücken, Germany.

Ninja Marnau (N)

CISPA Helmholtz Center for Information Security, 66123, Saarbrücken, Germany.

Annika Krämer (A)

Chair for Information Security and Cryptography, Saarland University, 66123, Saarbrücken, Germany.

Claudia Durand (C)

CeGaT GmbH, Center for Genomics and Transcriptomics, 72076, Tübingen, Germany.

Florian Battke (F)

CeGaT GmbH, Center for Genomics and Transcriptomics, 72076, Tübingen, Germany.

Hans-Ulrich Prokosch (HU)

Chair of Medical Informatics, Friedrich Alexander University Erlangen-Nürnberg, 91058, Erlangen, Germany.

Michael Backes (M)

CISPA Helmholtz Center for Information Security, 66123, Saarbrücken, Germany.
Chair for Information Security and Cryptography, Saarland University, 66123, Saarbrücken, Germany.

Andreas Keller (A)

Chair for Clinical Bioinformatics, Saarland University, 66123, Saarbrücken, Germany.

Dominique Schröder (D)

Chair for Applied Cryptography, Friedrich-Alexander University Erlangen-Nürnberg, 90429, Erlangen, Germany.

Hugo A Katus (HA)

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.

Norbert Frey (N)

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.

Benjamin Meder (B)

Institute for Cardiomyopathies, Department of Medicine III, University of Heidelberg, Im Neuenheimer Feld 410, 69120, Heidelberg, Germany. benjamin.meder@med.uni-heidelberg.de.
DZHK (German Centre for Cardiovascular Research), 69120, Heidelberg, Germany. benjamin.meder@med.uni-heidelberg.de.
Stanford Genome Technology Center, Stanford University School of Medicine, Palo Alto, CA, 94305, USA. benjamin.meder@med.uni-heidelberg.de.

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