DNA info would aid researchers, but some fear discrimination
by:  JIM CLARK, OHSU’s Kara Drolet says that the amount of time participants would be followed means that their tissue samples would have to have some identifying information, which could 
open the door to privacy breaches.

Susan Hayflick, chairwoman of the genetics department at Oregon Health and Science University medical school, wants numbers.

Hayflick's research involves trying to determine the genetic causes of rare childhood brain diseases. To find these rare genetic mutations, she needs large numbers of people willing to give up DNA samples and participate in clinical studies. But increasing regulations governing medical research have made work like hers difficult, Hayflick said.

'Researchers are losing the ability to do the research they want to do, and study participants are struggling with the amount of documents. It's gotten crazy,' Hayflick said.

What would make Hayflick's work easier, and probably speed up the rate of research breakthroughs that could lead to new treatments, she said, is a large biobank that contained DNA samples and medical histories of hundreds of thousands of people.

A national biobank with a half-million DNA samples is exactly what the National Institutes of Health has proposed. But the idea is not without controversy.

And in two weeks, a team of Johns Hopkins University researchers will be coming to Portland to hear whether folks here think it's a good idea.

The Johns Hopkins team, chosen by the NIH to gauge public reaction to the idea, is hoping that about 200 people representing a cross section of Portland residents and health care workers will attend the second in a series of five scheduled town hall meetings across the nation to discuss the proposed biobank. The first was held in Kansas City, Mo., in early March.

Hayflick loves the national biobank idea. Researchers, not just those studying rare diseases but those studying common ailments, too, could apply to the biobank for access.

That would provide them with many more samples than they currently can access by recruiting participants for their individual studies or relying on the small banks of genetic material kept at hospitals and research centers - including some in Oregon. And the studies would be based on larger numbers - precisely what researchers need, Hayflick said.

'There's really no other way to do it,' Hayflick said. 'Obesity, hypertension, diabetes - the stuff that's killing people - it would allow us to identify the genetic bases of these problems.'

Not so fast, said Andrea Meyer, legal director of the American Civil Liberties Union of Oregon. Meyer said the possibility of a national DNA biobank poses a number of problems, starting with the potential for discrimination, and including people having their DNA used for research they may not support.

'Once we start storing this information and sharing it and using it, that creates new possibilities for the invasion of our privacy and the potential for stigmatism and discrimination,' Meyer said.

The proposed biobank would hold DNA samples from a cross section of volunteers, said Rick Borchelt, a spokesman for the genetics and public policy center of the Berman Institute of Bioethics at Johns Hopkins.

The bank would house information about volunteers' health and lifestyles, which would allow researchers to study the connections between genes and health, or even the way they lead their lives.

Everyone whose DNA ends up in the bank would be followed by researchers for at least 10 years. Some participants might wear a sensor to log their exposures to radiation or other environmental contaminants, Borchelt said. Some might be asked to keep a diet and exercise log. Researchers might periodically visit participants' homes to gather more information.

The result would be a warehouse of information similar to those in England, Japan and Iceland, Borchelt said. The Iceland biobank, which holds DNA and health information from a large number of that country's residents, already has been cited for breakthroughs connecting genes and diabetes, and for finding genetic factors that appear to influence mental illness.

Some worry about privacy

Large national biobanks are rare, Borchelt said, partly because they are so expensive. The NIH hasn't yet put a price tag on its proposed biobank, but experts say the project could cost hundreds of millions of dollars.

That kind of money buys numbers, but the project has its detractors, or at least those with concerns.

Deven McGraw, director of the Health Privacy Project at the nonprofit Washington, D.C.-based Center for Democracy and Technology, worries that the size of the NIH's proposed biobank could increase the potential for participants' medical histories and genetic information getting into the wrong hands.

Genetic information differs from medical histories in that it often tells less about people's health than their health to come, or the possible health of their family members.

For instance, a positive test for BRCA 1 or 2, a pair of genes linked to breast cancer, can tell researchers if a patient is more likely to develop breast cancer in her lifetime. It also would indicate that her siblings or children are more likely to get breast cancer.

When that type of information becomes more widely available - to health insurance companies or potential employers - it can cause all sorts of problems.

Health insurers have withdrawn coverage and employers have refused jobs to healthy people whose genes predict a likelihood of future disease.

Oregon law prohibits discrimination by health insurers or employers based on genetics, but many states do not have such laws, and there is no national genetics anti-discrimination law.

Kara Drolet, manager of research integrity at OHSU and co-chairwoman of the state advisory committee on genetics and privacy, said privacy breaches could occur in a number of ways. And because participants would be followed for years, Drolet said, the biobank would not be able to keep tissue samples free of identifying personal information.

'The number of scientists who would want to gain access to this bank would be a lot. There'd be a lot of sharing, and that leaves open the potential for error in confidentiality protection,' Drolet said.

McGraw points to an incident in February when an NIH researcher had his laptop containing names and medical histories of 2,500 participants in a clinical study stolen from the trunk of his car.

'Even if you have the best security protocols and technology in place you still can't completely engineer human error or technological glitches out of any system,' McGraw said.

Putting the medical histories and genetic information of a half-million Americans in one biobank means that a hacker, or possibly a government official, could get at all that information, experts say.

Law may not be enough

The ACLU's Meyer said that she won't support a national biobank without passage of a federal genetic information nondiscrimination act, which has been debated by Congress.

But even a law saying it is illegal to discriminate based on genetic information won't be enough, Meyer said. She wants 'oversight and laws that ensure that if this information is improperly used, there is a penalty. That we just don't say, 'Keep it as safe as you can, please.' '

In addition, Meyer said, people participating in the biobank should have some say in how their samples are used.

'People need to understand that there may be research projects that might be inconsistent with their belief system or contrary to where they think science should be going,' Meyer said.

Patricia Backlar, a Portland State University professor of bioethics, said that asking people to contribute DNA samples and their medical histories when many may not have health insurance strikes her as unjust.

'The issue of medical research is important - we've all benefited from it, ' Backlar said. 'But if you can't get cared for, then it's not useful.'

OHSU's Hayflick, who also sits on the state advisory committee, said she's looking forward to the town hall meeting, which will include a presentation on the NIH biobank proposal.

'Portland is the perfect place to have this,' Hayflick said. 'I'm betting there will be pretty loud voices on both sides, but that the prevailing voice will be this is a great thing for public health in the state and beyond, so let's get together and do it.'

The town hall meeting on the proposed national biobank will be held 5:30 p.m. April 24 at the Oregon Convention Center.

To register for the free event go to

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Patients can opt out of research

The National Institutes of Health proposal for a national biobank with the DNA and medical histories of 500,000 volunteers probably will get some people thinking about whether they want their DNA to be part of future research.

But the fact is, many Oregonians already are taking part in genetics studies, and some may not even be aware of it.

Consider that blood test you had months ago, and what happened to the blood after the lab finished its analysis.

Federal law permits blood and tissue samples to be used for medical research without the consent of patients - as long as the samples are labeled in a way that they cannot be connected to individual patients.

Oregon's laws are more restrictive.

In 2005, the Legislature passed a law giving Oregonians a choice on whether their samples could be stored and used for later research. But the law does not require hospitals and labs to get patients' permission to use their biological material for genetic studies.

Instead, it requires providers to present patients with a form so that they can opt out of having their material used. If patients don't sign, they are automatically opted in - their material can be stored and used, as long as their samples are disseminated to researchers without patient names attached.

Andrea Meyer, legal director of the American Civil Liberties Union of Oregon, sits on the state advisory committee that helped formulate the Oregon law. She said that requiring patients to opt out rather than opt in was a compromise.

'We would have preferred people to opt in, but we wanted to make it work,' Meyer said. By requiring patients to sign a form only if they don't want to participate, Meyer said, there is less of an administrative burden on health care providers, making it more likely they will comply with the law, Meyer said.

And Meyer said that it was important some bill be passed because without it, 'you were never even told. You never knew.' Prior to 2005, Oregon hospitals and labs could use leftover patient blood and tissue however they wanted, as long as it could not be connected to individual patients.

Still, not everybody is sure that all patients are being told about their choice.

A state committee looking into privacy and genetic research found last year that many health care providers were not even aware that they were required to give patients the opt-out option. The state committee also found that hospitals reported a huge variation in the numbers of patients choosing to opt out.

Some hospitals have reported opt-out rates as low as 4 percent and others as high as 45 percent.

Many large hospitals sent written forms through the mail to patients. Some health care experts think that smaller hospitals and labs may not be taking the time to train their employees on presenting patients with their options.

And Meyer is concerned that some health care providers may be presenting the form for opting out in a way that patients hardly notice it.

'If you get it in a large packet of information, it can be kind of hard to process,' Meyer said.

In addition, the state committee found last year that some laboratories were finding the work of tracking patient choices too burdensome. Their choice was to simply claim that all patient samples were to be considered opt-out, and not used for research.

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