Beth Sullivan recently received some troubling news.
The professor of molecular genetics and microbiology got a warning straight from her own genes that she is at an increased risk for two well-known major diseases.
Which ones? Sullivan won't say.
"I am not so willing to say, 'OK, these are the ones I am at risk for,' just because I think I am still processing that information and trying to figure out what the relevance is for my life," she said.
Sullivan received her genetic warnings as a participant in the Duke Personal Variome Project-a study that looks at why people choose to have their genomes examined and how they react to the information they receive.
In the study, 14 Duke professors had about one million individual pieces of their genetic code, called single nucleotide polymorphisms, examined for variations that indicate disease risk, as well as traits like hair color. The project, which began last Spring, tested for diseases including breast cancer, multiple sclerosis and diabetes. Results of the research will be published in November.
If the type of genetic assessment performed in the study becomes commonplace, more people may face the same challenge as Sullivan-the challenge of living with the knowledge that one has a higher risk of a potentially life-changing disease.
"Some time in the next five to 10 years, people like you will have their genomes done, everyone will," said Huntington Willard, director of the Institute for Genome Sciences and Policy and a principal investigator of the study. "This is a social revolution that people are going to have to wrap their heads around."
But for now, some study participants say the technology is more curiosity than revolutionary medical advance.
"If you were thinking that you were going to do this to learn something medically relevant, I think that's a waste of money at this point," said study participant Terry Furey, professor of biostatistics and bioinformatics. "I couldn't even tell you now without looking at it what it said specifically I was at increased risk for."
Others, such as Sullivan and Willard, have paid closer attention to their test results. Because they already lead healthy lives, however, neither have made changes to their lifestyles as a result of the testing, they said.
Willard, though not a participant in the study, said he has had his genome analyzed several times, revealing that he is at a greater risk of developing cancer. Still, he knew of this risk before he ever submitted blood or spit to a laboratory-he was diagnosed with colon cancer and also has a family history of the disease.
"Getting colon cancer changed my lifestyle," he said. "My genome testing hasn't changed my lifestyle... but I'm already in this behavioral mindset of thinking about cancer risk and trying to modify behavior to reduce that risk in a very general way."
Family history of a disease can be just as indicative of one's chance of getting the disease as genomic testing, Willard said. But he added that for some people, the results of a genetic test might spur them to take care of their health in a way that family history does not.
"As people think about what DNA means and about what the genome means, there really is a sense that this is much more directive and impactful than the generic 'Uncle Joe had heart disease,'" he said.
But some said the first hurdle for people without Willard's background in genetics is often simply understanding what DNA and other genetics terms mean.
"When you just throw out the term polymorphism or SNP, you've lost the person already," said Susanne Haga, an assistant research professor in the IGSP and one of the investigators of the study. "I mean, who in the world knows those things?"
Genomic assessments might also reveal risks for highly preventable yet life-threatening conditions that one might not have known about otherwise, said Rachel Cohen, communications manager of 23andMe, a company that provides commercial genomic analyses to customers.
The 23andMe diagnostic is similar to the one used in the Personal Variome Project, but 23andMe looks at 90 diseases and conditions, compared to 27 in the Duke project. The 23andMe assessment is available through the company's Web site for $399.
"It's never too early to learn information that could impact your health," Cohen said.
Though companies like 23andMe may reveal information that helps their clients improve their health, these individuals must also be prepared for possibly disturbing news. One gene examined by 23andMe is associated with up to a 74-percent chance of developing Parkinson's disease, according to the company's Web site. Parkinson's disease is a debilitating neurological disorder for which there is no cure, and the Personal Variome Project did not examine participants' risk for this disease.
For fear of discovering such a risk, some, even in the IGSP have decided to forego genetic testing. Haga has a Ph. D. in human genetics and is one of the researchers conducting the Personal Variome Project, yet she has declined the opportunity to look at her own genome.
"For me, I think it is a personal issue in that I would be the type of person who would worry a lot regardless of the validity of the results," she said.
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