Genomic high-throughput technologies (GHTT) such as next-generation sequencing represent a fast and cost-effective tool toward a more comprehensive understanding of the molecular background of complex diseases. However, technological advances contrast with insufficient application in clinical practice. Thus, patients, physicians, and other professionals are faced with tough challenges that forestall the efficient and effective implementation. With the increasing application of genetic testing, it is of paramount importance that physicians and other professionals in healthcare recognize the restrictions and potential of GHTT, in order to understand and interpret the complex data in the context of health and disease. At the same time, the growing volume and complexity of data is forever increasing the need for sustainable infrastructure and state-of-the-art tools for efficient data management, including their analysis and integration. The large pool of sensitive information remains difficult to interpret and fundamental questions spanning from billing to legal, social, and ethical issues have still not been resolved. Here we summarize and discuss these obstacles in an interdisciplinary context and suggest ways to overcome them. Continuous discussion with clinicians, data managers, biostatisticians, systems medicine experts, ethicists, legal scholars, and patients illuminates the strengths, weakness, and current practices in the pipeline from biomaterial to sequencing and data management. This discussion also highlights the new, cross-disciplinary working collaborations to realize the wide-ranging challenges in clinical genomics including the exceptional demands placed on the staff preparing and presenting the data, as well as the question as to how to report the data and results to patients.

中文翻译：

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基因组高通量数据的临床应用：基础设施、伦理、法律和社会心理方面

新一代测序等基因组高通量技术 (GHTT) 代表了一种快速且具有成本效益的工具，可以更全面地了解复杂疾病的分子背景。然而，技术进步与临床实践中的应用不足形成鲜明对比。因此，患者、医生和其他专业人员面临着阻碍高效实施的严峻挑战。随着基因检测的应用越来越多，医生和其他医疗保健专业人员认识到 GHTT 的限制和潜力，以便在健康和疾病的背景下理解和解释复杂的数据，这一点至关重要。同时，不断增长的数据量和复杂性永远增加了对可持续基础设施和最先进的数据管理工具的需求，包括它们的分析和集成。大量敏感信息仍然难以解释，从计费到法律、社会和道德问题的基本问题仍未得到解决。在这里，我们在跨学科的背景下总结和讨论这些障碍，并提出克服它们的方法。与临床医生、数据经理、生物统计学家、系统医学专家、伦理学家、法律学者和患者的持续讨论阐明了从生物材料到测序和数据管理的管道中的优势、劣势和当前实践。本次讨论还强调了新的，