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Genomics - Page 3

Functional Genomics

The words of Winston Churchill, spoken in 1942 after three years of war, capture well this stage of the human genomic era: "Now this is not the end. It is not even the beginning of the end. But it is, perhaps, the end of the beginning."

The avalanche of genome data grows daily. The new challenge will be to use this vast reservoir of data to explore how DNA and proteins work with each other and the environment to create complex, dynamic living systems.

Systematic studies of function on a grand scale-functional genomics-will be the focus of biological explorations in this century and beyond. These explorations will encompass studies in other "omics" such as:

  • Transcriptomics which involves large-scale analysis of messenger RNAs transcribed from active genes in order to follow when, where, and under what conditions genes are expressed.
  • Structural genomics initiatives are being launched worldwide to generate the 3-D structures of one or more proteins from each protein family, thus offering clues to function and biological targets for drug design.
  • Comparative genomics - analyzing DNA sequence patterns from humans and well-studied model organisms side-by-side has become one of the most powerful strategies for identifying human genes and interpreting their function.
  • Knockout studies to inactivate genes in living organisms and monitor any changes that could reveal their functions are experimental methods for understanding the function of DNA sequences and the proteins they encode.


The Future of Genome-Based Research

Rapid progress in genome science and a glimpse into its potential applications have spurred observers to predict that biology will be the foremost science of the 21st century.

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Genome-based research is already enabling medical researchers to develop more effective diagnostic tools, better understand the health needs of people based on their individual genetic make-ups, and design new treatments for disease.

Thus, the role of genetics in health care is starting to change profoundly and the first examples of the era of personalized medicine are on the horizon:

  • Improved diagnosis of disease
  • Earlier detection of genetic predispositions to disease
  • Rational drug design
  • Gene therapy and control systems for drugs
  • Pharmacogenomics: 'custom drugs'
  • As genomics moves from the 'bench to the bedside', continue to explore the ethical, legal, and social issues raised by genomic research.
Image courtesy of Genome Management Information System,
Oak Ridge National Laboratory


It is important to realize, however, that it often takes considerable time, effort, and funding to move discoveries from the scientific laboratory into the medical clinic. Most new drugs based on genome-based research are estimated to be at least 10 to 15 years away from general use.

According to biotechnology experts, it usually takes more than a decade for a pharmaceutical company to conduct the kinds of clinical studies needed to receive approval from the Food and Drug Administration.

Screening and diagnostic tests, however, are expected to be developed and in use more quickly. Rapid progress is also anticipated in the emerging field of pharmacogenomics, which involves using information about a patient's genetic makeup to better tailor drug therapy to their individual needs.


Ethical Issues in Genomics

Genomic research may greatly change the practice of health care. But genomic research alone is not enough to enable application of this new knowledge to improvements in human health.

We need to carefully study the many ethical, legal and social issues raised by this research. Such study is crucial in order to use genomic research to help patients and prevent misuse of new genetic technologies and information.

Many people see this as a balance between the rights of the individual and future individuals. Others see this as much more of a black and white choice. A few issues are listed below:

  • Who owns genetic information?
  • Who should have access to an individual's genetic information?
  • Do genes control behavior?
  • How should genetic information be used in reproductive decisions?
  • How does personal genetic information affect self-identity and society's perceptions of individuals?
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  • Possible discrimination by employers or health insurers as a result of learning genetic information.
  • The need to develop ethical standards for work with human research subjects or tissues.
  • Consideration of social, cultural and religious perspectives on genetics and health.

Because all these new issues are emerging, the U.S. Department of Energy (DOE) and the National Institutes of Health (NIH) have devoted 3% to 5% of their annual Human Genome Project (HGP) budgets toward studying the ethical, legal, and social issues (ELSI) surrounding availability of genetic information. This represents the world's largest bioethics program, which has become a model for ELSI programs around the world.



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