Special Libraries, January 1966

Volume 57, Issue 1https://scholarworks.sjsu.edu/sla_sl_1966/1000/thumbnail.jp

Special Libraries, September 1968

Volume 59, Issue 7https://scholarworks.sjsu.edu/sla_sl_1968/1006/thumbnail.jp

Next-generation sequencing-based genome diagnostics across clinical genetics centers: Implementation choices and their effects

Implementation of next-generation DNA sequencing (NGS) technology into routine diagnostic genome care requires strategic choices. Instead of theoretical discussions on the consequences of such choices, we compared NGS-based diagnostic practices in eight clinical genetic centers in the Netherlands, based on genetic testing of nine pre-selected patients with cardiomyopathy. We highlight critical implementation choices, including the specific contributions of laboratory and medical specialists, bioinformaticians and researchers to diagnostic genome care, and how these affect interpretation and reporting of variants. Reported pathogenic mutations were consistent for all but one patient. Of the two centers that were inconsistent in their diagnosis, one reported to have found 'no causal variant', thereby underdiagnosing this patient. The other provided an alternative diagnosis, identifying another variant as causal than the other centers. Ethical and legal analysis showed that informed consent procedures in all centers were generally adequate for diagnostic NGS applications that target a limited set of genes, but not for exome- and genome-based diagnosis. We propose changes to further improve and align these procedures, taking into account the blurring boundary between diagnostics and research, and specific counseling options for exome- and genome-based diagnostics. We conclude that alternative diagnoses may infer a certain level of 'greediness' to come to a positive diagnosis in interpreting sequencing results. Moreover, there is an increasing interdependence of clinic, diagnostics and research departments for comprehensive diagnostic genome care. Therefore, we invite clinical geneticists, physicians, researchers, bioinformatics experts and patients to reconsider their role and position in future diagnostic genome care

Space life sciences strategic plan

Over the last three decades the Life Sciences Program has significantly contributed to NASA's manned and unmanned exploration of space, while acquiring new knowledge in the fields of space biology and medicine. The national and international events which have led to the development and revision of NASA strategy will significantly affect the future of life sciences programs both in scope and pace. This document serves as the basis for synthesizing the options to be pursued during the next decade, based on the decisions, evolution, and guiding principles of the National Space Policy. The strategies detailed in this document are fully supportive of the Life Sciences Advisory Subcommittee's 'A Rationale for the Life Sciences,' and the recent Aerospace Medicine Advisory Committee report entitled 'Strategic Considerations for Support of Humans in Space and Moon/Mars Exploration Missions.' Information contained within this document is intended for internal NASA planning and is subject to policy decisions and direction, and to budgets allocated to NASA's Life Sciences Program

The TOSCA Registry for Tuberous Sclerosis-Lessons Learnt for Future Registry Development in Rare and Complex Diseases.

Introduction: The TuberOus SClerosis registry to increase disease Awareness (TOSCA) is an international disease registry designed to provide insights into the clinical characteristics of patients with Tuberous Sclerosis Complex (TSC). The aims of this study were to identify issues that arose during the design, execution, and publication phases of TOSCA, and to reflect on lessons learnt that may guide future registries in rare and complex diseases. Methods: A questionnaire was designed to identify the strengths, weaknesses, and issues that arose at any stage of development and implementation of the TOSCA registry. The questionnaire contained 225 questions distributed in 7 sections (identification of issues during registry planning, during the operation of the registry, during data analysis, during the publication of the results, other issues, assessment of lessons learnt, and additional comments), and was sent by e-mail to 511 people involved in the registry, including 28 members of the Scientific Advisory Board (SAB), 162 principal investigators (PIs), and 321 employees of the sponsor belonging to the medical department or that were clinical research associate (CRA). Questionnaires received within the 2 months from the initial mailing were included in the analysis. Results: A total of 53 (10.4%) questionnaires were received (64.3% for SAB members, 12.3% for PIs and 4.7% for employees of the sponsor), and the overall completeness rate for closed questions was 87.6%. The most common issues identified were the limited duration of the registry (38%) and issues related to handling of missing data (32%). In addition, 25% of the respondents commented that biases might have compromised the validity of the results. More than 80% of the respondents reported that the registry improved the knowledge on the natural history and manifestations of TSC, increased disease awareness and helped to identify relevant information for clinical research in TSC. Conclusions: This analysis shows the importance of registries as a powerful tool to increase disease awareness, to produce real-world evidence, and to generate questions for future research. However, there is a need to implement strategies to ensure patient retention and long-term sustainability of patient registries, to improve data quality, and to reduce biases

Usage Bibliometrics

Scholarly usage data provides unique opportunities to address the known shortcomings of citation analysis. However, the collection, processing and analysis of usage data remains an area of active research. This article provides a review of the state-of-the-art in usage-based informetric, i.e. the use of usage data to study the scholarly process.Comment: Publisher's PDF (by permission). Publisher web site: books.infotoday.com/asist/arist44.shtm

Entrepreneurial Experiments in Science Policy: Analizing the Human Genome Project

We re-conceptualize the role of science policy makers, envisioning and illustrating their move from being simple investors in scientific projects to entrepreneurs who create the conditions for entrepreneurial experiments and initiate them. We argue that reframing science policy around the notion of conducting entrepreneurial experiments – experiments that increase the diversity of technical, organizational and institutional arrangements in which scientific research is conducted – can provide policy makers with a wider repertoire of effective interventions. To illustrate the power of this approach, we analyze the Human Genome Project (HGP) as a set of successful, entrepreneurial experiments in organizational and institutional innovation. While not designed as such, the HGP was an experiment in funding a science project across a variety of organizational settings, including seven public and one private (Celera) research centers. We assess the major characteristics and differences between these organizational choices, using a mix of qualitative and econometric analyses to examine their impact on scientific progress. The planning and direction of the Human Genome Project show that policy makers can use the levers of entrepreneurial experimentation to transform scientific progress, much as entrepreneurs have transformed economic progress.Entrepreneurial Experiments; Science Policy; Human Genome Project

Department of Homeland Security Science and Technology Directorate: Developing Technology to Protect America

In response to a congressional mandate and in consultation with Department of Homeland Security's (DHS) Science and Technology Directorate (S&T), the National Academy conducted a review of S&T's effectiveness and efficiency in addressing homeland security needs. This review included a particular focus that identified any unnecessary duplication of effort, and opportunity costs arising from an emphasis on homeland security-related research. Under the direction of the National Academy Panel, the study team reviewed a wide variety of documents related to S&T and homeland security-related research in general. The team also conducted interviews with more than 200 individuals, including S&T officials and staff, officials from other DHS component agencies, other federal agencies engaged in homeland security-related research, and experts from outside government in science policy, homeland security-related research and other scientific fields.Key FindingsThe results of this effort indicated that S&T faces a significant challenge in marshaling the resources of multiple federal agencies to work together to develop a homeland security-related strategic plan for all agencies. Yet the importance of this role should not be underestimated. The very process of working across agencies to develop and align the federal homeland security research enterprise around a forward-focused plan is critical to ensuring that future efforts support a common vision and goals, and that the metrics by which to measure national progress, and make changes as needed, are in place