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Gene information opens new frontier in privacy debate

Dr. George Church says everyone will have access to personal genetic data in a matter of years. Dr. George Church says everyone will have access to personal genetic data in a matter of years. (DINA RUDICK/GLOBE STAFF)

Scientific celebrities like James Watson and Craig Venter are making their genetic information public knowledge. Will you be able to keep yours private?

That question looms as the fast-moving world of genomics - the study of the full sequence of DNA in organisms - progresses toward the day when an individual's genetic makeup becomes a common part of the medical record. Such a development could vastly improve medical care, but leave a wealth of sensitive data within reach of employers, insurers, or other firms.

"Pretty soon, all of us will have access to our personal genetic data," said George Church, a Harvard scientist whose study, the Personal Genome Project, will release genetic records of 10 people this fall, including Church's.

Church would like to find 100,000 more volunteers to build a scientific trove of genetic data and estimates he can already sequence the portion of human DNA containing genes for $1,000.

"Ideally, everybody on the planet would share their medical and genomic information," Church said.

A genome is a complete set of DNA, which exists in most of our cells. Genes comprise 1 to 2 percent of a given genome. A sample allowing scientists to compare even a few thousand sets of genes would enormously improve their ability to pinpoint the correlations between particular genetic traits and illnesses, he noted.

Congress is close to passing legislation to prevent commercial misuse of such data, such as the denial of health insurance to people with red flags for certain diseases in their genetic code. President George Bush has pledged to sign the Genetic Information Nondiscrimination Act, or GINA, once Congress votes it through.

Even so, it is unlikely that one piece of legislation can anticipate all the consequences of genomics.

"The only way we're going to figure out how to deal with the privacy, legal, moral, and medical implications of having our genomes sequenced is to have somebody do it, and see what happens," said Dr. John Halamka, chief information officer at Harvard Medical School and Beth Israel Deaconess Medical Center, who is another participant in Church's study.

There is little dispute about the scientific and medical potential of genomics, which could dramatically personalize healthcare - for instance, by revealing whether a patient's genes will likely cause a poor response to medication. Today, Church notes, "One of the most common things the doctor asks you is, 'Do you have any bad reactions to drugs?' Well, you may not know until you take them." But genomic data "would tell you about drug metabolism before you have a toxic event."

Preventive medicine could also be improved. Venter, a key figure in the 1990s push to chart human genomes, had his own genome completed in 2006. Having found he is prone to heart disease, Venter has adopted lifestyle changes to reduce that risk. Granted, the genome's complexity means unanswered questions will remain even as the functions of many genes are identified.

Church said economics and pragmatism shaped his approach of sequencing genes rather than the whole genome: "For 1 percent of the cost, you get 99 percent of the value." For its part, the National Institutes of Health hopes entire genomes can be deciphered for $1,000 by 2014.

But will people be able to keep their genetic information to themselves? That may depend if an individual is, at any given time, a research subject, patient, employee, insurance recipient, or customer. The same information could be subject to different principles in different circumstances.

Currently, research projects have given their subjects latitude to withhold data. Nine of the 10 people in the Personal Genome Project have authorized Church to release their names, genomes, and medical histories. But Watson, co-discoverer of the structure of DNA, had his genome sequenced by 454 Life Sciences Corp. of Branford, Conn., and chose to withhold data about his likelihood of developing Alzheimer's disease.

Some people envision patients having a similar relationship with doctors. "I might only share some components of my record with some physicians," suggests Dr. Keith Batchelder, CEO of Genomic Healthcare Strategies, a Charlestown-based consulting firm, and another of the 10 subjects in Church's group. An emergency-room doctor might have access to all genetic data, but a specialist might not.

The protocols behind that idea are still unsettled, however, as are privacy principles for the commercial uses of genomics.

Consider the genetic twists involving insurance and employment. Suppose, says Halamka, he is a carrier of cystic fibrosis: "Maybe my descendants won't be able to get insurance because of a pre-existing condition from three generations ago." Or employers could decide a person with a genetic risk of heart disease is ill-suited to a high-stress job.

The congressional act, GINA, aims to prevent such discrimination, by restricting the ability of insurers and employers to collect genetic data, and to act upon the data they do obtain. "I think GINA really takes care of the insurance and employment issues for people," says Kathy Hudson, director of the Genetics and Public Policy Center at Johns Hopkins University, who testified in favor of the bill in Congress. GINA passed in the House earlier this year, but awaits a Senate vote; Senator Tom Coburn, Republican of Oklahoma, currently has a hold on the bill.

However, the legislation does state that insurance companies may view the "minimum amount of information necessary" to decide whether to give people coverage - a moving target given that scientists are in the early stages of exploring genomics.

"The minimum 'need to know' today may be different than the minimum 'need to know' tomorrow," says Halamka. "Five years after you release your information, we may be able to go back and learn more than you thought we were going to be able to learn." Genetic data that seems medically unimportant today could affect insurance claims in the future.

Church believes GINA would provide a barrier to misconduct. "I think the loopholes are not so critical as one might imagine," he says. "What's important is that the insurance companies and employers know they could get sued."

And yet, employers and insurers are not the only companies interested in genetics. The nascent industry of genetic diagnostics - in which companies offer at-home kits allowing customers to send off DNA samples for analysis - might not be restricted by GINA or other laws.

In those cases, customers would need to read the fine print to make sure their DNA would not be sold to, say, pharmaceutical companies.

Granted, the privacy problems that might stem from that or any circumstance are subject to debate. Batchelder believes the complexity of genetic data would make it of limited use to others.

"I'd rather have my genotype lack privacy than have people looking at my credit card records or what I've been searching on Google," he said.

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