Medical research focuses on customized care

Physician Researcher Janice Lu, MD.

Physician Researcher Janice Lu, MD. (Credit: Sam Levitan )

At Stony Brook University's cancer center, medical investigators are studying 21 key genes and what they can reveal about breast cancer.

Not far at North Shore University Hospital in Manhasset, doctors are studying RNA, a close cousin molecule to DNA, and the role it might play in personalized medicine. In Manhattan, the New York Genome Center, a 21-month-old collaborative enterprise of major regional research institutions, has laid out an ambitious agenda to find the genetic underpinnings of numerous disorders, ranging from Alzheimer's to various complex forms of cancer.

Doctors are convinced that medicine's future lies not in one-size-fits-all pills, but in individualized treatments based on each patient's genes. It's possible, some experts say, that in the not-too-distant future a patient's entire genetic makeup may be digitally inscribed as a bar code in an electronic medical chart. The beginnings of such personalized medicine, doctors say, is already here.


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"This means that treatments are being tailored to you based on your genetic profile," said Dr. Janice Lu, a professor at Stony Brook University School of Medicine and a specialist in the treatment of breast cancer.

The potential for a patient's genetic profile to predict success -- or failure -- in treatment has inspired a few regional medical institutions to invest more than a half-billion dollars each on centers devoted to studying and treating patients based on their personal genetics.

Making the investmentMemorial Sloan-Kettering Cancer Center in Manhattan has completed an addition devoted to the research of cancer genomics. NewYork-Presbyterian Hospital/Weill Cornell Medical Center is completing one.

Although Stony Brook is not constructing a center based on personal genomics, doctors there are studying the potential of personalized medicine -- and patients' genes.

Lu is overseeing a clinical trial at her institution designed to determine the likelihood of a breast cancer recurrence based on a patient's profile of 21 genes. The study involves a genetic test called Oncotype Dx.

Lu and other doctors participating in the nationwide study are trying to predict the fate of patients whose cancers had already spread to the lymph nodes at the time of diagnosis.

What they hope to find is whether screening can help determine a patient's risk of cancer returning in the future and which treatments will best suit patients to prevent the malignancy's resurgence.

"If a patient's gene profile is high-risk then that means chemotherapy will work for her and help prevent the cancer from coming back," said Lu, who emphasized that the 21-gene profile allows doctors to make the treatment decision. Patients whose personal genomics suggests low risk may be able to avoid chemotherapy altogether.

"This is what we mean by tailored medicine because one size doesn't fit all," Lu said, referring to the conventional approach of providing all patients with the same form of treatment.

At the New York Genome Center, Dr. Robert B. Darnell, president and scientific director, said this is an exciting period of discovery for medical investigators as they move into the era of personalized, genomic-based medicine.

"This is the future of medicine and this will be one of the largest genome centers in the country," Darnell said.

The center is a collaborative effort involving a dozen regional research institutions, including Cold Spring Harbor Laboratory, Stony Brook University and the North Shore-Long Island Jewish Health System. All three Long Island institutions are among the center's founding members.

Darnell noted that in the wake of the Supreme Court ruling earlier this month, which banned the practice of patenting human genes, scientists now have "a fair and level playing field" for studying the human genome.

With ground rules in place, he said, there is no limit to what can develop on the genomics front.

"This is really the biologic version of the Manhattan Project," Darnell said, comparing the evolving field of medical genomics to the scientific effort of the 1940s that produced the atomic bomb. "There's no limit on how many people can get involved here and what they can do."

Outside of New York, Harvard Medical School has a genomics center designed to determine when a person's genetic makeup can ascertain when a treatment will be most effective. Stanford University in California also has its Center for Genomics and Personalized Medicine.

Research has other usesJust as doctors at Stony Brook are using genomics to predict how patients will fare following a breast cancer diagnosis, Darnell said genomics will bring a better understanding of Alzheimer's disease, autism, inflammatory conditions and other forms of cancer.

Finding the mutated DNA at the core of those disorders also provides the genetic targets for future gene-based treatments, Darnell said.

"We're studying everything from cradle to grave in neurologic diseases," Darnell said.

Much of his center's research, however, will examine the basic molecules of life itself, he said.

"Typically, when people think about genomic research they consider sequencing DNA," Darnell said, noting that RNA, ribonucleic acid, which copies DNA's information in cells is another subject of investigation at the center. Darnell's institution received $2.5 million in funding from each of its member institutions.

Dr. Daniel Budman, director of hematology and oncology for the North Shore-Long Island Jewish Health System, said his institution is also studying RNA, particularly its role in cancer, and how having an intimate knowledge of these molecules can aid personalized medicine. "We are studying micro-RNA, which is a small form of RNA," Budman said. "Over the last five years or so we've noticed that it has a controlling activity on cells."

Budman added that he and his colleague, Dr. Juliana Shapira, have been looking into the roles of micro-RNA in breast and ovarian cancers.

These molecules may eventually help doctors identify certain subtypes of these cancers, which would influence the kind of therapy patients receive.

"This type of RNA was first discovered in petunias," Budman said. "Now it's telling us something about cancer."

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