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DNA sequencer raises doctors' hopes for personalized medicine

DNA sequencer raises doctors' hopes for personalized medicine | Salud Publica | Scoop.it

Among the many stents, surgical clamps, pumps and other medical devices that have recently come before the Food and Drug Administration for clearance, none has excited the widespread hopes of physicians and researchers like a machine called the Illumina MiSeqDx.


This compact DNA sequencer has the potential to change the way doctors care for patients by making personalized medicine a reality, experts say.


"It's about time," said Michael Snyder, director of the Stanford Center for Genomics and Personalized Medicine.

 

Physicians who rely on genetic tests to guide their patients' treatment have had to order scans that reveal only small parts of a patient's genome, as if peeking through a keyhole, Snyder said: "Why would you study just a few genes when you can see the whole thing?"

 


Back in 2000, when the Human Genome Project completed its first draft of the 3 billion base pairs that make up a person's DNA, the effort took a full decade and cost close to $100 million. The Illumina MiSeqDx can pull off the same feat in about a day for less than $5,000 — and the results will be more accurate, two of the nation's top physicians gushed in the New England Journal of Medicine.

 


That confluence of "faster, cheaper and better" is likely to accelerate the use of genetic information in everyday medical care, Dr. Francis Collins, director of the National Institutes of Health, and Dr. Margaret Hamburg, commissioner of the FDA, wrote last month. DNA sequencing should guide physicians in choosing the best drug to treat a specific patient for a specific disease while risking the fewest side effects.

 

 

more at http://www.latimes.com/science/la-sci-personalized-medicine-20140104,0,436970.story#axzz2pVUO0gKI


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For Some Cancer Patients, Personalized Medicine Has Arrived

For Some Cancer Patients, Personalized Medicine Has Arrived | Salud Publica | Scoop.it

New tools for analyzing genes are allowing doctors to personalize treatment for some lung cancer patients.

 

Imagine your doctor being able to scan your DNA from a biopsy and pinpoint the medicine that will work best for you. This type of high-tech approach is a clinical reality for advanced lung cancer at The Ohio State Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute (OSUCCC – James).

 

The technology, known as next generation "multiplex" gene sequencing, analyzes 50-plus genes in DNA extracted from a tumor biopsy for particular genetic mutations.

 

Previous technology required pathologists to analyze one mutation per tube in a sequencing reaction, but next-generation genome sequencing assesses more than 2,500 mutations in a single reaction. 

 

Knowing which mutations are present in lung tumors can help doctors tailor a patient's treatment to the unique genetic features present in his or her cancer cells.

 

The knowledge can also help in the development of new drugs that target previously unrecognized gene mutations in lung tumors. I often compare these genes to the gas pedal in a car — when activated, these genes make the cancer grow. By breaking the linkage between the gas pedal and the motor (or interfering with these "driver" mutations) with specific targeted drugs, doctors can stop this growth and often make the cancer shrink.

 

That's especially important in lung cancer because the majority of patients with this disease are diagnosed in the later stages, meaning it's important to start effective therapies quickly.

 

For example, a patient could be given a standard chemotherapy and expect a 25- to 30- percent response rate/shrinkage of a tumor. But if the treatment team knows that a patient has a mutation in a gene called EGFR, we can offer him or her a pill (erlotinib and afatinib are approved for this use in the United States), which has a 75-percent response rate and fewer side effects.

 

Gene sequencing is now considered the standard of care for stage-4 lung cancer patients at The OSUCCC – James and a handful of other centers across the United States — and several clinical trials evaluating molecular targeted therapies for patients with stage-3 lung cancers will soon start at The OSUCCC – James.

 

 

Lung cancer remains the number one cause of cancer death in the United States, and in the world, among both men and women. More than 200,000 cases are diagnosed annually in the United States. Each year during the month of November, physicians and others observe lung cancer awareness month, which sheds light on this terrible disease.

  
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