gms | German Medical Science

Introduction: Genomic high-throughput technologies (gHTT) such as next-generation sequencing promise the comprehensive understanding of complex diseases. However, with its increasing application, it is necessary to understand the challenges, limitations, and benefits patients, physicians and other professionals of the health care system are faced with in the implementation of gHTT in clinical practice. On the one hand, current infrastructure is not in place to support management, integration, and visualization of the increasing volume of complex data. On the other hand, the large pool of sensitive information remains difficult to interpret and raises novel, still unresolved ethical, social, and legal issues particularly regarding informed consent and privacy [1], [2], [3]. In the consortium “GenoPerspektiv” we have analyzed interdisciplinary challenges and provide direction regarding the clinical integration of gHTT.

Methods: With regard to the ethical and psycho-social implications, two different approaches were undertaken: First, moral attitudes, concerns, and demands in clinical settings were explored and analyzed by means of qualitative socio-empirical research. Secondly, a large-scale survey (n=1000) as quantitative instrument was conducted to analyze intrapersonal, interpersonal, and external factors. Furthermore, legal rights and obligations of patients, clinicians, and researchers have been analyzed especially the German Genetic Diagnostic Act, protection of data privacy, medical malpractice, and health insurance laws. In view of data management and reporting strategies, we have addressed the current situation, needs and possible solutions for the implementation of a practical and seamless pipeline from biorepositories over sequencing units to molecular tumor boards. Qualitative interviews with stakeholders with different background and on-site analysis of international medical centers representing a broad cross section of size and services were performed [4].

Results: To enable the effective clinical integration of gHTT, the following areas of action were identified:

• Clear guidelines regarding test methodologies, quality of data, data storage, interfaces for seamless provision of data, and reporting in molecular tumor boards are mandatory [4], [5].
• Integration, analysis, and interpretation of data requires profound knowledge in bioinformatics and in system biology. For this purpose, reliable databases of variants with accurate and consistent phenotypes are needed.
• Collaborative working interactions with specialists across diverse disciplines will be a key requisite to ensure that interpretation is accurate and the relevant information is communicated. This interdisciplinary education in genomic medicine have to be embedded in researcher`s and physician`s curricula [5].
• Moral concerns regarding the implications of gHTT for patient autonomy and informational self-determination, clinical utility and doctors’ professional roles and responsibilities have been identified and need closer ethical consideration.
• Several difficulties and limits in applying current regulations and laws (e.g. concerning informed consent, the German Gene Diagnostic Act, protection of data privacy) have been identified. Refinements have been specified and discussed with patients as well as professionals of the healthcare system.

Discussion: Overall, we address bioinformatical, ethical, psycho-social and legal challenges and provide practical recommendations on how to deal with gHTT and corresponding data. Moreover, these findings that will guide the clinical integration of gHTT are elaborated and disseminated in close dialogue with patients, their relatives, and professionals of the health care system.

Acknowledgements:

This work was supported by the German Federal Ministry of Education and Research (BMBF) within the framework of the e:Med research and funding concept (grant number 01GP1402).

Die Autoren geben an, dass kein Interessenkonflikt besteht.

Die Autoren geben an, dass ein positives Ethikvotum vorliegt.