What is Genomics?
Timely Diagnosis to Improve Prognosis
The new science of genomics is driving major biological and medical research innovations in the twenty-first century. Researchers are now focused on rapidly moving findings from research to the clinical laboratory for management of patient disease. The completion of the sequencing of the human genome, the resultant insight into the genetic components of diseases, the invention of discovery tools like DNA microarrays and the continuing maturation of molecular diagnostics combine into a “perfect storm” of opportunity for a new era in oncology diagnostics (the best way to treat cancer is still to diagnose it early).
GeneNews is at the forefront of genomic technology development and application and is well positioned to take advantage of these opportunities in order to improve health through earlier diagnosis of disease and more rational management of illnesses. When the Sentinel Principle is added into the mix, with blood being such an attractive target of investigation and diagnosis, it is clear that GeneNews has the potential to bring molecular diagnostics, the fastest growing discipline in laboratory medicine, to a new level of growth.
Genomics and Functional Genomics
Genomics is the study not just of the individual genes of an organism but of the whole genome, the entire complement of genetic material of an individual. In fact, genomics extends to the study of gene expression –the copying of DNA to RNA and ultimately its expression as a protein—in populations as well as individuals. The tools of the genomic revolution are used to investigate the DNA (both coding and non-coding), RNA and proteins of humans, animals, plants and microbes.
The international Human Genome Project, the thirteen-year sequencing of the three billion base pairs of human genomic DNA, was completed in 2003. Researchers were able to calculate the final tally; we now know that humans have approximately 25,000 genes. We also know that since there are many more than 25,000 human proteins, it’s clear that the expression of the human genome is a complicated, sophisticated affair that is serving as the object for not only enhanced genomic investigation but also as a foundation for the new science of systems biology.
Merely knowing how many genes humans have is but a small step for genomic medicine. Almost all disease, even infectious diseases, have a genetic component. Disease may be the result of many different kinds of gene malfunctions. It is therefore important to understand the function of genes and the types of mutations and natural changes that may be used to detect disease. In addition, since many diseases that afflict humans are caused not by just one or a few genes, but by multiple genes, it is important to understand how genes interact, which is a simple way to think about the complicated and important science of systems biology. Cancer and heart disease, for example, occur as a result of many known and unknown genes interacting with each other and with the environment, and over long periods of time; these are multigenic diseases.
With the understanding that many diseases are multigenic, DNA microarray technology was developed to expand the research focus from single gene studies to studies of the totality of genes of the genome. Microarray technology uses solid supports, for example glass slides, to bind thousands of short stretches of DNA simultaneously. In microarray hybridization experiments, researchers can identify at a glance which genes are turned on – that is, expressed and actively producing RNA that will produce proteins - and which genes are turned off – or inactive in a cell or tissue -- and how active the gene is in the cell. In other words, a “snapshot” of gene activity can be taken and used to answer questions about disease characterization and ultimately diagnosis.