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This paper develops four alternative scenarios depicting possible futures for genomics applications within a broader social context. The scenarios integrate forecasts for future genomics applications with key drivers that are shaping genomics. Each scenario is a narrative depiction of an alternative path towards four very different futures for genomics. The scenarios are intended to give the user the a framework to explore and test their assumptions about the future of genomics, and help them explore the wider interactions between genomics applications and society. Scenario 1, “genomics, inc.”, is a “best guess extrapolation” of key drivers shaping genomics. Scenario 2, “broken promises”, explores hard times for genomics. Scenario 3, “out of our control”, explores the opportunities and challenges brought about by the globalisation of genomics. Scenario 4, “genomics for all”, explores the successful and visionary development of genomics.

New technologies are posing new challenges to social science. Their very novelty also challenges the established methods that social research institutions have used to define their priorities. The UK’s Economic and Social research Council (ESRC) confronted these challenges, in part, by commissioning a futures study. It engaged the Institute for Alternative Futures (IAF) and the Centre for Research on Innovation and Competition (CRIC), to develop quickly a process for informing the choice of social science research priorities related to genomics. Four major reports were developed as background inputs to a scenario workshop process. As well as outlining a set of scenarios for the development of the genomics field, reports covered genomic applications, forecasts for drivers shaping genomics, and how the ESRC’s “thematic priorities” might relate to developments in genomics in the coming years. With this input and using advanced “groupware”, the scenario workshop identified five priority areas focused on how research should be conducted and 11 priority topics for what research is needed.

Clinical genomics is a complex, innovative medical speciality requiring clinical and organizational engagement to fulfil the clinical reward promised to date. Focus thus far has been on gene discovery and clinicians’ perspectives. The purpose of this study was to use implementation science theory to identify organizational barriers and enablers to implementation of clinical genomics along an organizations’ implementation journey from Preadoption through to Adoption and Implementation.

We used a deductive qualitative approach study design drawing on implementation science theory - (1) Translation Science to Population Impact Framework, to inform semi structured interviews with organizational decision-makers collaborating with Australian and Melbourne Genomics, alongside and (2) Theoretical Domains Framework (TDF), to guide data analysis.

We identified evolving organizational barriers across the implementation journey from Preadoption to Implementation. Initially the organizational focus is on understanding the value of clinical genomics (TDF code: belief about consequences) and setting the scene (TDF code: goals) before organizational (TDF codes: knowledge and belief about consequences) and clinician (TDF codes: belief about capability and intentions) willingness to adopt is apparent. Once at the stage of Implementation, leadership and clarity in organizational priorities (TDF codes: intentions, professional identity and emotion) that include clinical genomics are essential prerequisites to implementing clinical genomics in practice. Intuitive enablers were identified (e.g. ‘providing multiple opportunities for people to come on board) and mapped hypothetically to barriers.

Attention to date has centred on the barriers facing clinicians when introducing clinical genomics into practice. This paper uses a combination of implementation science theories to begin to unravel the organizational perspectives of implementing this complex health intervention.

This essay examines the issues that the ongoing revolution in biosciences and biotechnology pose to social science. A convenient frame for examining these issues is the framework of “thematic priorities” established by the British funding agency for social science, the Economic and Social Research Council (ESRC). These “thematic priorities” are used to identify major challenges and opportunities that currently confront social research. Though not constructed as part of a futures exercise, this framework proved useful for organising the issues that were generated from literature review and brainstorming, provided a stimulus to identify new issues, and was a useful filter for presenting results to the ESRC, which sponsored the study. This range of issues does not just call for interaction between natural and social scientists: there is also need for the sharing of knowledge and perspectives across diverse fields of social science. In order to help inform future research priorities, we need to move beyond the perspectives of single disciplines, and make sure that we do not simply emphasise those areas where social scientists have already been actively engaged. The study concludes clearly that there is a huge range of vital questions that social science needs to address if we are to understand, let alone bring more social intelligence to bear on shaping, the scientific and technological revolutions that are under way, and their broader social implications.

Using a dynamic capabilities lens, this paper aims to study the impact of genomics generally and gene therapy specifically on the rare disease sector of the biopharmaceutical industry.

In this study, 24 genomics-based, rare disease-focused biopharma companies were studied and several variables were tested with respect to enterprise value growth. The companies were analyzed as a group of rare disease firms, as well as by size.

The authors found that number of employees, revenues, number of pipeline and marketed products and retained earnings are strongly correlated (in that order) with enterprise value in rare disease focused biopharma companies. These correlations seem to be weaker as a company’s market capitalization size decreases, indicating that there tends to be increasing returns to scale.

This study found that increasing rates of cumulative returns to enterprise value growth depends on accumulating knowledge-based employees and expanding product portfolios of disruptive genomics-based technologies for treating rare diseases. Aggregating skilled and innovative employees (especially in bigger companies) can be seen as a cumulative bolstering factor in leveraging dynamic capabilities which can be recognized, understood and transformed into commercial success (i.e. increasing returns in enterprise value). In other words, technology managers’ job is to manage not only the financial aspects of the technology but also human resources, asset configuration and strategic alliances efficiently toward faster and better innovation. Strong dynamic capabilities can be formed with the accumulation of experience, articulation and codification of knowledge and an adaptive ability to change the way they solve problems as their environment transforms.

This is the first study to demonstrate and measure a relationship between dynamic capabilities and enterprise value in genomics-based rare disease firms. Further, this study highlights the importance of building the capability and capacity to absorb expertise and accumulate knowledge for new product innovations and sustainable competitive advantage in industries characterized by disruptive innovation.

In February this year the sequence of the human genome was published, opening a new chapter in medicine. Soon genetic testing will be at the heart of diagnosis, epidemiology, drug development and even regenerative medicine. Before we are born there will be new opportunities to remedy genetic defects, and afterwards to make almost lifelong prognoses. The debate will intensify on the use of human embryos in medical research, while the prospect of human cloning will fascinate some scientists and horrify others. Europe needs to be in the vanguard of this new industrial revolution, but a host of ethical concerns must first be addressed – because genomics is as much about privacy as Petri dishes.

The purpose of this paper is to understand genomics scientists’ perceptions in data quality assurances based on their domain knowledge.

The study used a survey method to collect responses from 149 genomics scientists grouped by domain knowledge. They ranked the top-five quality criteria based on hypothetical curation scenarios. The results were compared using χ2 test.

Scientists with domain knowledge of biology, bioinformatics, and computational science did not reach a consensus in ranking data quality criteria. Findings showed that biologists cared more about curated data that can be concise and traceable. They were also concerned about skills dealing with information overloading. Computational scientists on the other hand value making curation understandable. They paid more attention to the specific skills for data wrangling.

This study takes a new approach in comparing the data quality perceptions for scientists across different domains of knowledge. Few studies have been able to synthesize models to interpret data quality perception across domains. The findings may help develop data quality assurance policies, training seminars, and maximize the efficiency of genome data management.

Gliomas are common intracranial tumors with the characteristic of diffuse and invasive growth. The prognosis is poor, and the recurrence rate and mortality are higher. With the development of big data technology, many methods such as natural language processing, computer vision and image processing have been deeply applied in the medical field. This can help clinicians to provide personalized and precise diagnosis and therapeutic schedule for patients with different type of gliomas to achieve the best therapeutic effect. The purpose of this paper is to summarize and extract useful information from published research results by conducting a secondary analysis of the literature.

The PubMed and China National Knowledge Infrastructure (CNKI) literature database were used to retrieve published Chinese and English research papers about human gliomas. Comprehensive analysis was applied to conduct this research. The factors affecting survival and prognosis were screened and analyzed respectively in this paper, and different methods for multidimensional data of patients were discussed.

This paper identified biomarkers and therapeutic modalities associated with prognosis for different grade of gliomas. This paper investigated the relationship among these clinical prognostic factors and different histopathologic tying and grade of gliomas by comprehensive analysis. This paper summarizes the research progress of biomarker in medical imaging and genomics of gliomas to improve prognosis and the current status of treatment in China.

Combined with multimodal data such as genomics data, medical image data and clinical information data, this paper comprehensively analyzed the prognostic factors of glioma and provided guidance and evidence for rational treatment planning and improvement of clinical treatment prognosis.

The purpose of this paper is to analyze the use of electronic journals (e-journals) by the scientists of Council of Scientific and Industrial Research-Institute of Genomics and Integrative Biology (CSIR-IGIB) – a center of excellence in the field of genomics and integrative biology situated in Delhi, India.

The paper is based on the results of a well-structured questionnaire administered to all the scientists of the institute for the purpose of data collection.

The main findings are that the scientists are more attracted toward e-journals specially on those provided by CSIR-NISCAIR Consortia, NKRC than those available via direct subscription. From this survey, the investigator has been able to find out that almost all the scientists are consulting e-journals from their campus cabin, not only for research purposes but also to update their own knowledge. The infrastructure to use e-journals are superb and there is no technological problem specially hardware and software support with high bandwidth of Internet speed exists here, as CSIR-IGIB uses largest computing facility (four Tflop/s) in Asia outside Japan (ranked 158th among the World’s Top 500 Super Computers). Respondents also identified that there is dire need for training in using e-resources and retrieving pinpointed information from the databases.

The present paper consists only of scientists and the geographical area is restricted to CSIR-IGIB, Delhi. The scope of the paper can be extended to additional CSIR libraries. A comparative study can also be made among some biological research libraries of CSIR Institutes.

There are a number of studies on the use of e-journals by CSIR scientists, but this is the first of its kind which covers scientists of IGIB that has the largest computing facility (four Tflop/s) in Asia outside Japan. As such, it should pave the way for research and lead a model role for other CSIR Institutes as well as elsewhere.