Full promise of genomics in disease research yet to be realized

Over the past decade genomics has revolutionized our understanding of how microorganisms cause disease. However, genomic studies need to be extended to a more diverse array of microorganisms and research tools improved to gain additional insights into pathogenesis, according to a new report released by the American Academy of Microbiology.

Genomic studies have placed a comprehensive understanding of pathogenesis in sight, but much work lies ahead, according to the report, The Genomics of Disease-Causing Organisms: Mapping a Strategy for Discovery and Defense. The report is based on the findings of a colloquium convened by the Academy in Key Largo, Florida, in November 2003. Professionals in the fields of genomics, bacteriology, virology, eukaryotic microbiology, medicine, clinical diagnostics, bioinformatics and forensics participated in discussions on the recent advancements in the field and the outlook for future research.

“Genomics has had a profound and lasting impact on the study of pathogens and disease, to the extent that it is difficult to imagine what the science would be like today in the absence of genomics,” says Richard J. Roberts, Chair of the Colloquium Steering Committee. “Today a genome sequence is the first priority when investigating an emerging infectious disease, and vaccines and therapies are often designed straight from the genome.”

Since the first completed genome of a pathogenic bacterium was announced in 1995, over 100 bacterial pathogens and over 1,000 viruses have been sequenced. These genomes have led to revolutions in disease research. For example, genome data can help to globally track and identify existing and new diseases, such as in the case of SARS. Genomics has identified the genetic signatures that today are being used in bioforensics to allow authorities to investigate cases of suspected bioterrorism. Some of the recent drugs in the arsenal against AIDS were designed using information from the HIV genome.

Certain themes have emerged from the analyses of pathogen genome sequences and the possibility exists that a “common thread” genetic sequence may be found linking pathogens of wildly different species, says the report. Finding such a “Rosetta Stone” of pathogenesis could ultimately expedite disease control and prevention.

For continuing progress the report specifically recommends greatly increasing the library of genomes to include not only more pathogenic microorganisms but also sequences of their hosts, nonpathogenic relatives, and a diverse array of unrelated microorganisms. All are needed to complete the picture of pathogenesis and provide a framework for understanding disease.

Additionally, the most important tools in genomics are inadequate, says the report. Improvements are especially needed in annotation methodologies and sequence databases.