gms | German Medical Science

Introduction: Costs and effort for genome sequencing has dramatically fallen [1] and now, this technology has entered patient care to support personalized diagnostics and improve treatment strategies. However, genome data are sensitive personal data and contain a large, previously unknown potential for information about predispositions to diseases. In particular, these information reveal their medical value if they are merged and compared with other data of third parties. As a consequence, the information value about an individuum, its re-identification potential, and the challenges for data protection are increasing [2], [3], [4]. Here, we investigate the current state of knowledge as well as attitudes, fears, and expectations of patients, professionals, and the public towards genome sequencing. Moreover, we address their implications regarding storage, access, and distribution of genome data and corresponding patient information.

Methods: We carried out an explorative survey within the project “GenoPerspektiv” (http://www.genoperspektiv.de). The survey was designed by psychologists, psychiatrists, human geneticists, ethicists, biomedical informaticians, and lawyers. It consisted of 68 items addressing demographic information, experiences, and expertise in genome sequencing, but also attitudes, expectations, and fears regarding data protection, provision, distribution of (raw) data, and anticipated consequences after relevant medical findings in the context of genomic analysis. Participants were recruited (online) via interdisciplinary organizations (including University of the Third Age and patient associations), relevant email lists, and different social media communities from June 2016 to June 2017. 875 participants completed the survey and their data were used for further investigations. In interdisciplinary data review meetings, tranSMART was used to check data in terms of validity and consistency. Later on we aimed to detect trends and values in the data followed by statistical analyses.

Results: Our study participants had a positive attitude towards this technology and neither the disease status nor demographic aspects had significant effects on their disposition to undergo genome sequencing. With regard to the future of genome sequencing, the majority of participants considered this technology indispensable for healthcare. Although people were open towards long-term storage, they feared insufficient protection as well as unauthorized use of their genome data. Moreover, they had precise ideas about who should have access to their data and to which extent. And beyond, the majority of our participants were highly interested to get full access to their own sequencing data and they wished to obtain the raw, unanalyzed data.

Discussion: Overall, our findings underline the need for transparent and adequate communication of data handling practices and safety precautions in patient information and in public debate. This would enable patients to make informed and truly self-determined decisions and thus serve as opportunity to optimize the application of clinical genomics across disciplines for the benefit of the patient. Our findings are intended to advise clinicians, researchers, data managers, and other healthcare-related parties to adequately address data storage, access, and dissemination aspects of genome sequencing data in patient information and to improve data management practices. This will become particularly crucial during the transition phase of the European General Data Protection Regulation concerning patient’s right for detailed data transfer.

Acknowledgements: This work was funded by the German Federal Ministry of Education and Research (BMBF) in the project “GenoPerspektiv” (grant number 01GP1402).

The authors declare that they have no competing interests.

The authors declare that an ethics committee vote is not required.