The Complexities of Citizen DNA Research

Sharon Terry is a health hacker. A recent Wall Street Journal article described how 10 years ago, in an attempt to find out more about her children’s rare genetic disease, she asked researchers for test results that contained information about their DNA. But researchers told her that data didn’t belong to her.

Now Terry is president of Genetic Alliance, a network of health hackers, or citizen scientists, that advocate for greater access to health data, which they use to perform their own analyses and experiments ― ones that many feel are clinically meaningful. These self-taught researchers hold the belief that those with no formal scientific training are capable of making scientific contributions, and crowd-sourced data is ultimately more beneficial for patients than data that is locked away in private databases.

With this movement has come the development of tools that help people launch their own health investigations. And as technology improves, the amount and quality of data that people can access increases. For example, 23andme is a retail DNA testing service that started out providing users with a way to examine their DNA through genotyping. 23andme has users send their cheek cells to a lab for analysis. Results are then published on a user’s personal online portal where they can explore their DNA.

The company took citizen DNA research a giant step further when it started to offer complete exome sequencing, a service that the company announced this past September at the Health 2.0 Conference. Exome sequencing is the sequencing of all of a person’s genes. 23andme’s service is $999, compared with $99 for genotyping. Still, the quickly falling price is relatively affordable, and the results provide much more clinically important information than genotyping.

“What has changed now is that with the advent of whole genome and whole exome sequencing, we’re now talking about a test that is clearly a medical test,” said Dr. James Evans, a Bryson Distinguished Professor of Genetics and Medicine at the University of North Carolina School of Medicine. “It has the power in some people to provide some very useful, very substantial and practical medical information.”

While Evans sees the potential benefits that individual test results can have, he warns of the harm it can cause patients in a paper published in the Journal of the American Medical Association this week. Evans says that as more people choose to have their genes sequenced, researchers won’t immediately know how to interpret new findings. Excessive medical spending might result as people, scared by what they think the results show, rush to get unnecessary follow-up testing.

He also argues that unregulated medical testing and access to the results can cause people a lot of anxiety if they discover that they have or are at risk for developing incurable diseases.

“By having the casual release of such information to people — because all they did was swab their cheek and send their visa card number to somebody — I think that one is asking for trouble,” Evans said. That’s why he advocates for some kind of medical professional who isn’t financially invested in a direct-to-consumer genetic testing company to perform an individual’s DNA testing and analysis.

The debate is sure to come up more and more as ever-improving tools and technology make it easier and more affordable for people to access their data. Currently there’s a push from the government to digitalize medical information through electronic health records. One of the expected results is that, as this data is made available to patients via online portals, they will be empowered to take a larger role in their health. In the near future DNA data will be included in many’s health records, and things are bound to get tricky when physicians tell their patients that they can access their data ― just not all of it.

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