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Precision medicine, genomics to speed cures for disease

Thursday, February 4, 2016

Precision medicine involves first combing through billions of genes to find a disease trigger.

Then scientists screen thousands of drugs seeking new cures or cures from existing medication to treat illnesses.

Technological advances and a broad genome-testing campaign at NewYork-Presbyterian Hospital are helping its researchers determine the exact order of patients’ DNA components quicker than ever, according to Dr. David Goldstein, head of the Institute for Genomic Medicine Institute at NewYork-Presbyterian/Columbia University Medical Center. Adding the genomes of about 10,000 people a year to the institute’s database increases the capacity for linking particular gene combinations to specific diseases, according to NewYork-Presbyterian.

Those developments, and a new initiative by President Obama encouraging more collaboration within the field, will produce more cures in the years ahead, Goldstein said this week at the Kravis Center during NewYork-Presbyterian’s annual Frontiers of Medicine symposium.

He gave a few examples of how genomics is changing medicine.

Within the past year, doctors referred a toddler to the institute. The little girl was too weak to lift her hands over her head and keep her head upright.

The doctors who referred her thought she had an autoimmune problem. But three weeks after institute scientists took a sample of her blood, a search through the 20,000 or so genes involved in protein production revealed she has a degenerative nerve disease. It is an illness that affects only 50 to 60 people in the world, Goldstein said.

The girl has two mutations that hinder a specific gene’s ability to transport the vitamin riboflavin into the inner parts of cells, Goldstein said. The cure — giving patients with this mutation “tremendous” doses of riboflavin — alleviates symptoms almost immediately, he said. The girl is doing much better today, he said.

“What the field has done is develop the appropriate methodologies to be able to zero in, out of all of those changes, on that exact precise cause of disease,” Goldstein said.

Still, the astonishingly large potential combinations of gene sequences makes finding disease triggers a daunting task.

“If you read at the same rate that I do, it would actually take you 35 years to read through your own genome,” Goldstein said. “So when we sequence a patient to try find out what’s wrong with that patient, that’s the amount of information that we are looking through. And oftentimes what we are looking for, is exactly — and I really do mean exactly — one change out of those three billion sites.”

Push to boost survival rates

Gastrointestinal oncologist Allyson Ocean of the Meyer Cancer CenterAllyson Ocean, M.D. Dr. Allyson J. Ocean, gastrointestinal and medical oncologist at NewYork-Presbyterian and Weill Cornell Medicine, is conducting genomic research to increase the survival rate for people with pancreatic cancer.

She and colleagues test thousands of drugs on excised tumor cells to find the best drugs for treatment, Ocean said.

Testing the drugs this way minimizes side effects “because we are doing the trial and error outside the patient rather than testing different drugs that may or may not work on the patient,” she said.

Ocean said the current standard of care for pancreatic cancer is not effective. Only 20 percent of those diagnosed with the disease survive a year from diagnosis, Ocean said.

“We want to go beyond a one-size-fits-all approach and uniquely identify what’s driving that person’s cancer and work against it precisely,” she said.

This article first appeared in the Palm Beach Daily News. Read the original here.