Your personal gene map available soon for a mere $1,000

Robin Wulffson MD's picture
human genome, genetics, DNA, genetic diseases, gene sequencing
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CARLSBAD, CA - In most cases, the price of new technology plummets over time. Gene mapping is no exception. The Human Genome Project, launched in 1990 by the U.S. government's National Human Genome Research Institute in 1990, cost the American taxpayers about $2.7 billion. Four years ago, Knome Inc. (Cambridge, MA) introduced the first commercial human genome, priced at $350,000. At present, a complete genetic map can be had for about $3,000 and takes about a week.

On December 10, Life Technologies Corp., a Carlsbad, California genomics company, announced plans to introduce a machine, which was developed by the company's Ion Torrent unit. The company claims that the machine will be able to map an individual's entire genetic makeup for about $1,000; the procedure should be available by the end of 2012. Furthermore, Life Technologies asserts that the machine and accompanying microchip technology will be able to deliver the genetic information in a day.

The field of genetics had its origin in the 19th Century with the research by the monk, Gregor Mendel on pea plants. He determined that individual traits were the result of the presence of a specific gene. Fast forward to 1953 when researchers James Watson and Francis Crick discovered how genetic information was encoded. It had previously been known that genetic information was contained in the cell nucleus. Watson and Crick determined that the information was encoded in the sequence of four elements: adenine, thymine, guanine, and cytosine. The arrangement of these elements in deoxyribonucleic acid (DNA) comprises one’s genome. Each cell contains two sets of genetic material. For some traits, only one dominant gene is required; for others, two recessive genes must be present. In addition, other genes can either increase the expression (potency) of other genes.

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A complete genetic map provides a wealth of information regarding one’s health. It can also identify the presence of abnormal genes, which can be passed on to one’s offspring. Many genetic diseases are the result of two defective, or recessive, genes. Cystic fibrosis, for example, is the result of the possession of two defective genes, one derived from each parent. Individuals with two defective genes suffer from thickened mucus secretions, which damage the lungs, pancreas, intestinal tract, and other structures. The parents, who each carry one defective gene do not produce the secretions.

Reducing the price of gene mapping to $1,000 places it within the reach of many individuals; the cost is comparable to a MRI exam. This will accelerate an already fast-moving transformation in genetic discovery and drug development. Geneticists predict that an individual genetic code may soon be routinely used to guide prevention and treatment of illnesses throughout life. Pharmaceutical companies are identifying an increasing number of gene variants that they can target with drugs. Furthermore, geneticists are identifying more and more diseases that result from a mutation in just one gene. Mapping variations in the entire human genome should speed up and/or improve disease diagnosis; thus, it can aid in developing improved medical treatments targeted to patients with a specific genetic makeup. According to the U.S. Department of Energy Genome Programs, genomic information also may give an individual information about his or her risk for a common disease and predict how one will respond to particular medications or environmental exposures, such as radiation from medical procedures.

Whole-genome sequencing, as opposed to identifying a subset of genes suspected of being linked to an illness, allows geneticists to look broadly across all genes for mutations that are associated with diseases. This "broad net" approach is particularly useful when investigators do not have a good sense of which genes might be involved in a disease process. In addition, if individuals can be sequenced early in life to determine individual health risks, such as heart disease or Alzheimer’s disease learn about health risks, they may be able to take preventive drugs or monitor symptoms of particular diseases more closely. Whole-genome sequencing can also detect “modifier” genes for specific genetic illnesses such as cystic fibrosis or Tay-Sachs disease.

Life Technologies Corp. announced plans to introduce a machine will be able to map an individual's entire genetic makeup for about $1,000
; the procedure should be available by the end of 2012. Furthermore, Life Technologies asserts that the machine and accompanying microchip technology will be able to deliver the genetic information in a day.

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