Genomics Collection

Thousands of human genomes have been completely sequenced, and many more have been mapped at lower levels of resolution. Genomic studies hold great promise to advance the diagnosis and treatment of diseases, and advance research in anthropology, forensics, and other branches of science. The reports of this collection discuss the history, advancement, and translation of genomic-based research.


Improving the Efficiency and Effectiveness of Genomic Science Translation: Workshop Summary ( 2014 )

The process for translating basic science discoveries into clinical applications has historically involved a linear and lengthy progression from initial discovery to preclinical testing, regulatory evaluation and approval, and, finally, use in clinical practice. The low rate of translation from basic science to clinical application has been a source of frustration for many scientists, clinicians, investors, policy makers, and patients who hoped that investments in research would result in improved ...[more]


Oversight and Review of Clinical Gene Transfer Protocols: Assessing the Role of the Recombinant DNA Advisory Committee ( 2014 )

Gene transfer research is a rapidly advancing field that involves the introduction of a genetic sequence into a human subject for research or diagnostic purposes. Clinical gene transfer trials are subject to regulation by the U.S. Food and Drug Administration (FDA) at the federal level and to oversight by institutional review boards (IRBs) and institutional biosafety committees (IBCs) at the local level before human subjects can be enrolled. In addition, ...[more]


Refining Processes for the Co-Development of Genome-Based Therapeutics and Companion Diagnostic Tests: Workshop Summary ( 2014 )

Many drug developers have examined new strategies for creating efficiencies in their development processes, including the adoption of genomics-based approaches. Genomic data can identify new drug targets for both common and rare diseases, can predict which patients are likely to respond to a specific treatment, and has the potential to significantly reduce the cost of clinical trials by reducing the number of patients that must be enrolled in order to ...[more]


Genome-Based Diagnostics: Demonstrating Clinical Utility in Oncology: Workshop Summary ( 2013 )

Genome-Based Diagnostics: Demonstrating Clinical Utility in Oncology is the summary of a workshop convened in May 2012 by the Roundtable on Translating Genomic-Based Research for Health and the Center for Medical Technology Policy of the Institute of Medicine to foster the identified need for further sustained dialogue between stakeholders regarding the clinical utility of molecular diagnostics. The workshop brought together a wide range of stakeholders, including patients, health care providers, ...[more]


The Economics of Genomic Medicine: Workshop Summary ( 2013 )

The sequencing of the human genome and the identification of links between specific genetic variants and diseases have led to tremendous excitement over the potential of genomics to direct patient treatment toward more effective or less harmful interventions. Still, the use of whole genome sequencing challenges the traditional model of medical care where a test is ordered only when there is a clear indication for its use and a path ...[more]


The Science and Applications of Microbial Genomics: Workshop Summary ( 2013 )

Over the past several decades, new scientific tools and approaches for detecting microbial species have dramatically enhanced our appreciation of the diversity and abundance of the microbiota and its dynamic interactions with the environments within which these microorganisms reside. The first bacterial genome was sequenced in 1995 and took more than 13 months of work to complete. Today, a microorganism's entire genome can be sequenced in a few days. Much ...[more]


Evolution of Translational Omics: Lessons Learned and the Path Forward ( 2012 )

Technologies collectively called omics enable simultaneous measurement of an enormous number of biomolecules; for example, genomics investigates thousands of DNA sequences, and proteomics examines large numbers of proteins. Scientists are using these technologies to develop innovative tests to detect disease and to predict a patient's likelihood of responding to specific drugs. Following a recent case involving premature use of omics-based tests in cancer clinical trials at Duke University, the NCI ...[more]


Direct-to-Consumer Genetic Testing:Summary of a Workshop ( 2010 )

Today, scores of companies, primarily in the United States and Europe, are offering whole genome scanning services directly to the public. The proliferation of these companies and the services they offer demonstrate a public appetite for this information and where the future of genetics may be headed; they also demonstrate the need for serious discussion about the regulatory environment, patient privacy, and other policy implications of direct-to-consumer (DTC) genetic testing. ...[more]


The Common Thread:A Story of Science, Politics, Ethics, and the Human Genome ( 2002 )

The world was agog when scientists made the astounding announcement that they had successfully sequenced the human genome. Few contributed so directly to this feat as John Sulston. This is his personal account of one of the largest international scientific operations ever undertaken. It was a momentous occasion when British scientist John Sulston embarked on the greatest scientific endeavor of our times: the sequencing of the Human Genome. In ...[more]


The Genomic Revolution: Unveiling the Unity of Life ( 2002 )

The Genomic Revolution: Unveiling the Unity of Life ...[more]


Mapping and Sequencing the Human Genome ( 1988 )

There is growing enthusiasm in the scientific community about the prospect of mapping and sequencing the human genome, a monumental project that will have far-reaching consequences for medicine, biology, technology, and other fields. But how will such an effort be organized and funded? How will we develop the new technologies that are needed? What new legal, social, and ethical questions will be raised? Mapping and Sequencing the Human Genome is ...[more]