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Researchers Aim to Unlock Genetic Data Goldmine for Vital Medical Information

March 12, 2013 at 12:00 AM EST
Researchers in the San Francisco Bay area believe genetic tests will help them find the best ways to treat and potentially prevent diseases such as Alzheimer's disease, breast and prostate cancers. Spencer Michels reports on a giant data bank that houses genetic information on 200,000 people as part of a groundbreaking study.
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JEFFREY BROWN: In California, researchers are sifting through a huge collection of genetic data that could be a key to unlocking vital information for doctors and patients.

NewsHour correspondent Spencer Michels reports.

SPENCER MICHELS: Every year, 240,000 men in America learn that they have prostate cancer. Reggie Watkins, a retired parole officer and a patient at Kaiser Permanente in Oakland, Calif., is one of them.

REGGIE WATKINS, Kaiser Patient: The first biopsy showed a slight cancer, slight amount of cancer. The second biopsy showed no cancer. I do think there’s a genetic situation in my family. I’m not the only and my brother is not the only one in the family to have this problem.

SPENCER MICHELS: Until recently, Watkins’ family history and his unique genetic makeup would have played a minor role, if any, in his medical care. But thanks in part to a massive, groundbreaking new study under way at Kaiser and the University of California, San Francisco, information gleaned from patients’ genes may prove the key to identifying and treating a host of diseases.

NEIL RISCH, University of California, San Francisco: You know, you’re not born to this world as a blank slate. You come into it with a certain genetic disposition.

SPENCER MICHELS: UCSF Professor Neil Risch, the lead genetic researcher, says that his project and others that compile vast amounts of genetic information are on the verge of revolutionizing medicine.

NEIL RISCH: We can actually look to see how the genes that somebody has and they have had since they were born interact with environmental factors that actually work together to either increase or decrease risk of, say, heart disease or cancer or a whole variety of things.

SPENCER MICHELS: More than 200,000 Kaiser patients in California over the last five years have volunteered saliva and blood samples for genetic analysis. Those samples are processed at this Kaiser lab using state-of- the-art robotic devices which extract the DNA.

CATHERINE SCHAEFER, Kaiser Permanente: This is the richest, largest, the most comprehensive data bank right now in the world.

SPENCER MICHELS: Catherine Schaefer directs Kaiser’s gene research program. She says what makes the project unique when compared to other genetic data banks, including larger and older collections in Iceland and England, is the number of participants and their diverse ethnic mix.

Perhaps most important, Kaiser’s data bank has detailed electronic medical records for those participants that go back at least 15 years, a collection rare in the medical world.

CATHERINE SCHAEFER: It’s a large group of people who we know everything about their medical history. We can look across diseases and see, are there common elements in these diseases? Are there common genetic influences that lead to a variety of diseases?

SPENCER MICHELS: The DNA samples Kaiser collects are anonymous and private. The health records have been de-identified. Individuals who donate blood or saliva will not learn of their own genetic profile. The data bank is for research only.

A steady stream of those samples gets delivered daily to Kaiser’s biorepository lab, according to Sunita Miles, lab manager.

SUNITA MILES, Kaiser Lab Manager: So, these are big bags of saliva that we have received from the U.S. Postal Service.

SPENCER MICHELS: Every day, huh?

SUNITA MILES: Every day, we receive these. They come from consenting research participants. They receive the kit, they spit into the kit, and they then close the cap and send it back to us in a yellow envelope.

SPENCER MICHELS: Researchers say that Kaiser, with 5.5 million California members, is an ideal partner in building the gene data bank. In Northern California alone, it does 30 million blood tests a year, an entirely automated process that spews out reports on everything from cholesterol levels to liver function.

This is also where blood samples for the study are first received, and then passed on to the genetic researchers; 10 percent of Kaiser’s members have consented to be part of the data bank.

Analyzing the genes of the first 100,000 patients was done here at Risch’s U.C. lab in San Francisco. It was a long and costly process that was paid for with $25 million dollars of federal stimulus money from the National Institutes of Health. The data is stored digitally, billions of bits, in these UCSF servers.

NEIL RISCH: We think of this as really a gold mine, but a lot of gold is still in the mine. And we need the pickaxes to get it out.

SPENCER MICHELS: Kaiser’s Schaefer says researchers are just beginning to tap into the database gold mine, and she thinks Alzheimer’s will be one of the diseases which will be better understood by what they find in the data bank.

CATHERINE SCHAEFER: We don’t have any way right now to treat Alzheimer’s. We don’t have any way to prevent Alzheimer’s. So if we can understand what are the underlying pathways by which genes and environment interacting actually create the disease, then we have a chance to interrupt that process.

SPENCER MICHELS: Researchers acknowledge that the promise of genetics to treat and potentially prevent disease is moving slower in some cases than initially expected. But Schaefer and others are also convinced that genetics will play a vital role in determining which medicines can most benefit people.

CATHERINE SCHAEFER: We actually are finding, for example, that genes are an important factor in how people respond to medications. So we’re increasingly identifying what are the genetic variations — or the genetic variants that are important when you’re about to prescribe a medication for someone.

SPENCER MICHELS: Medicine to lower high cholesterol, statins, are part of Risch’s studies.

NEIL RISCH: So, you know, if people take statins, we look to see how their cholesterol, LDL cholesterol responds to taking statins. And we clearly show there’s a dose relationship. The larger your statin dose, The more response you have. But there are genetic factors that also determine how well you are going to respond to statin use.

SPENCER MICHELS: Early results not yet published show promise of making genetic connections to high cholesterol that haven’t been made before.

NEIL RISCH: We look at 700,000 different genetic markers. You can really come up with a genetic profile of how much these genes are actually contributing to your individual cholesterol level.

SPENCER MICHELS: Questions facing the organizers of the big genetic data bank include whether this is the most efficient way to study common diseases and whether enough scientists will use the data bank to justify its cost.

But those concerns, raised as the data bank was getting going, seem to have been answered by the response of scientists wanting to use the data.

NEIL RISCH: It’s something like 80 requests so far. This is only going to exponentiate as — again, as people become more aware of the resource and what its capabilities are.

SPENCER MICHELS: The enormous potential of the data bank only serves to emphasize the importance of genetics in health, especially precision or personalized medicine, says the chancellor of UCSF, oncologist Dr. Susan Desmond-Hellmann. She says big changes are coming.

DR. SUSAN DESMOND-HELLMANN, University of California, San Francisco: It is not unreasonable to think that your doctor in the future will say, in addition to checking your blood count or your liver tests, we’re going to get a genetic sequence for you because you are dealing with a clinical problem, anything from a cancer, Parkinson’s disease, where I’m going to be able to precisely treat you knowing that sequencing information. That’s a difference today vs. the future.

SPENCER MICHELS: Prostate cancer, like Reggie Watkins has, is high on the list of diseases sure to be influenced by new genetic studies, says Desmond-Hellmann.

SUSAN DESMOND-HELLMANN: I think the data base is going to be extraordinarily rich for prostate cancer. It remains true that most men, if they live into their 80s, will die with prostate cancer. Some men will die from prostate cancer.

Boy, that is a really difficult issue clinically. Who do we treat? Who is going to get in trouble, and who should we ignore? This data base will allow us to start to ask those questions. Who lives with and who dies of prostate cancer?

SPENCER MICHELS: Desmond-Hellmann believes the genetic revolution is at hand. And, she predicts, databases like the one in the bay area will flourish. Sequencing, reading through the part of the DNA code for genes looking for abnormalities, will become routine as it becomes easier and cheaper.

JEFFREY BROWN: Online, we pose the question, how much would you want to know about your DNA? Find out what people in San Francisco’s Union Square had to say.