Controlling my genome with my smartphone: first clinical experiences of the PROMISE system,Clinical Research in Cardiology

当前位置： X-MOL 学术 › Clin. Res. Cardiol. › 论文详情

Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)

Controlling my genome with my smartphone: first clinical experiences of the PROMISE system
Clinical Research in Cardiology ( IF 5 ) Pub Date : 2021-10-25 , DOI: 10.1007/s00392-021-01942-8
Ali Amr _{1,

2} , Marc Hinderer ₃ , Lena Griebel ₃ , Dominic Deuber ₄ , Christoph Egger ₄ , Farbod Sedaghat-Hamedani _{1,

2} , Elham Kayvanpour _{1,

2} , Daniel Huhn ₅ , Jan Haas _{1,

2} , Karen Frese _{1,

2} , Marc Schweig ₆ , Ninja Marnau ₇ , Annika Krämer ₈ , Claudia Durand ₉ , Florian Battke ₉ , Hans-Ulrich Prokosch ₃ , Michael Backes _{7,

8} , Andreas Keller ₁₀ , Dominique Schröder ₄ , Hugo A Katus _{1,

2} , Norbert Frey _{1,

2} , Benjamin Meder _{1,

2,

11}

Affiliation

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.
Stanford Genome Technology Center, Stanford University School of Medicine, Palo Alto, CA, 94305, USA.

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.

Graphic abstract

中文翻译：

用我的智能手机控制我的基因组：PROMISE 系统的首次临床体验

背景

精准医学策略的发展需要高维表型和基因组数据，这两者都是高度隐私敏感的数据类型。传统的数据管理系统缺乏以安全方式充分处理预期的大量此类敏感数据的能力。PROMISE 是一个基因数据管理概念，它实现了一个高度安全的数据交换平台，同时保留了患者的利益、隐私和自主权。

方法

PROMISE 使基因数据大众化的概念是由一个跨学科团队开发的。它集成了一个复杂的密码学概念，该概念仅允许患者通过单个 DNA 碱基对解析密码术选择性地访问其遗传信息的定义部分。PROMISE 系统是为研究目的而开发的，以在对 19 名接受基因分型、问卷调查和纵向随访的心肌病患者进行的试点研究中评估这一概念。