Making sense of big data in health research: Towards an EU action plan.

Medicine and healthcare are undergoing profound changes. Whole-genome sequencing and high-resolution imaging technologies are key drivers of this rapid and crucial transformation. Technological innovation combined with automation and miniaturization has triggered an explosion in data production that will soon reach exabyte proportions. How are we going to deal with this exponential increase in data production? The potential of "big data" for improving health is enormous but, at the same time, we face a wide range of challenges to overcome urgently. Europe is very proud of its cultural diversity; however, exploitation of the data made available through advances in genomic medicine, imaging, and a wide range of mobile health applications or connected devices is hampered by numerous historical, technical, legal, and political barriers. European health systems and databases are diverse and fragmented. There is a lack of harmonization of data formats, processing, analysis, and data transfer, which leads to incompatibilities and lost opportunities. Legal frameworks for data sharing are evolving. Clinicians, researchers, and citizens need improved methods, tools, and training to generate, analyze, and query data effectively. Addressing these barriers will contribute to creating the European Single Market for health, which will improve health and healthcare for all Europeans

Resources and tools for rare disease variant interpretation

: Collectively, rare genetic disorders affect a substantial portion of the world's population. In most cases, those affected face difficulties in receiving a clinical diagnosis and genetic characterization. The understanding of the molecular mechanisms of these diseases and the development of therapeutic treatments for patients are also challenging. However, the application of recent advancements in genome sequencing/analysis technologies and computer-aided tools for predicting phenotype-genotype associations can bring significant benefits to this field. In this review, we highlight the most relevant online resources and computational tools for genome interpretation that can enhance the diagnosis, clinical management, and development of treatments for rare disorders. Our focus is on resources for interpreting single nucleotide variants. Additionally, we present use cases for interpreting genetic variants in clinical settings and review the limitations of these results and prediction tools. Finally, we have compiled a curated set of core resources and tools for analyzing rare disease genomes. Such resources and tools can be utilized to develop standardized protocols that will enhance the accuracy and effectiveness of rare disease diagnosis

New Trends in Development of Services in the Modern Economy

The services sector strategic development unites a multitude of economic and managerial aspects and is one of the most important problems of economic management. Many researches devoted to this industry study are available. Most of them are performed in the traditional aspect of the voluminous calendar approach to strategic management, characteristic of the national scientific school. Such an approach seems archaic, forming false strategic benchmarks. The services sector is of special scientific interest in this context due to the fact that the social production structure to the services development model attraction in many countries suggests transition to postindustrial economy type where the services sector is a system-supporting sector of the economy. Actively influencing the economy, the services sector in the developed countries dominates in the GDP formation, primary capital accumulation, labor, households final consumption and, finally, citizens comfort of living. However, a clear understanding of the services sector as a hyper-sector permeating all spheres of human activity has not yet been fully developed, although interest in this issue continues to grow among many authors. Target of strategic management of the industry development setting requires substantive content and the services sector target value assessment

Western Australian Radiology Departments’ Views on Australian Personally Controlled Electronic Health Record

Introduction: Since the last decade, many countries have started developing a national electronic health record (EHR). The national EHR in Australia is called Personally Controlled Electronic Health Record (PCEHR). It has been available for use since 1 July 2012. A federal government’s review of its implementation was conducted in late 2013 because it failed to meet the set targets. The purpose of this study was to investigate Western Australian radiology departments’ views on the PCEHR complementary to the government’s review report. Methods: Chief medical imaging technologists (n=18) and picture archiving and communication system (PACS) administrators (n=18) from public and private hospitals in Western Australian were invited to participate in this study in May 2014. The response rate for participation was 22.2 percent (8/36). Semi-structured interviews were conducted with the participants to obtain their perceptions of PCEHR. The interviews were analysed inductively and thematically. Results: There were eight people (n=8) who agreed to participate. They believed the PCEHR would enhance efficiency and effectiveness of healthcare services if barriers to its implementation were addressed. The major barriers identified were concern of individual privacy, increase of staff workload, inadequate system functionalities and training, lack of involvement of stakeholders and money. The use of Medicare to provide both positive and negative incentives to the stakeholders was suggested as a viable solution to address the current barriers. Conclusion: This study investigated four Western Australian radiology departments’ perceptions of PCEHR. Although their perceptions were similar to the ideas in the government’s review report in general, new insights were also provided by the participants. These findings could potentially complement the government’s review

Special Libraries, April 1962

Volume 53, Issue 4https://scholarworks.sjsu.edu/sla_sl_1962/1003/thumbnail.jp