Genome: Emergence of Precision Medicine

Twelve years ago the Human Genome Project, an international collaborative research effort, made headlines with the mapping of every gene that exists in human beings.  It remains one of the most stunning scientific achievements in world history, comparable to America's moon landing.

Studies performed at 20 universities and research centers in six countries, including the U.S., produced complex details about the structure, organization and function of an estimated 20,500 human genes.  Each human has a unique set of more than three billion pairs of these genes.

Once the intricate mapping was completed, scientists had a blueprint of the order or sequence of genomes in the body.  For the first time, researchers were able to generate linkage maps, which allowed them to track inherited genetic diseases over generations.

With massive amounts of data in hand, the real work of science began.  How to use this voluminous  amount of data to treat, prevent and cure disease?  Within a few years, the first fruits of the Human Genome Project were harvested when scientists used the information to improve the treatment of cancer.

Today many patients with cancer are having their own genes mapped, which helps researchers predict how these individuals will respond to chemotherapy drugs.  Doctors can also ascertain which drugs might produce the least side effects for patients.

Gene data allows oncological specialists to target the specific molecular mechanism of a cancer tumor with drug treatments.  Their goal is to be able to identify the right drug for the right patient at the right time.  Before the Human Genome Project, this would have been all but impossible.

Some genes have already been identified as predictive of certain diseases.  For example, researchers have pinpointed the mutated genes that often are found in women with breast cancer.  With this information, doctors can screen women for the genes and recommend a proactive treatment and a health regiment.

Cancer isn't the only disease where genome sequencing has proved beneficial to patients.  Tests can be used as a tool to detect, identify and quantify viruses.  Increased data obtained from next-generation sequencing is providing insights into genomic components that underlie cardiac diseases.

Armed with genome data, doctors can prescribe individual approaches for disease treatment and prevention which take into account the genes, environment and lifestyle of each person.  This is the antithesis of medicine's one size fits all approach.  

Testing might not help every person, especially healthy individuals with no family history of disease.  Nonetheless, if gene mutations were identified in only two or three percent of the population, that would mean 10 million Americans would have advance warning about the potential for disease.

The good news is that the costs for individual genome sequencing is plummeting.  Twelve years ago the price tag was $1 billion.  In the intervening years, the expense has nosedived to about $5,000. However, new advancements in technology are driving the costs closer to $1,000.

One American company, Illumina, has been on the cutting edge of developing tools and systems for large-scale analysis of genetic variations and functions.  The firm's extensive line of sequencing systems are advancing the understanding of genetics and health.

Illumina, headquartered in San Diego, has rolled out a fleet of new products that feature the next generation sequencing (NGS).  The systems offer more speed and scalability which enables researchers to study genomes at a level never before possible.

Employing the sophisticated technology, specialists are able to figure out the order of DNA nucleotides, or bases, in a genome order.  Even with the data, scientists must still decode the genome sequence to understand the relationship and interaction of genes.

Less costly technology is making genome sequencing more accessible and practical for more researchers. That means more studies, experiments, trials and research will be launched as the data becomes more affordable and ubiquitous.

Human genome sequencing offers great promise for the treatment and prevention of disease.  In the future, an annual physical at the doctor's office may include a whole genome sequencing for the patient. Just twelve years ago that would have seemed like a preposterous idea.