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James Evans' Plan To Make Genetic Testing Data Manageable for the Clinic


When it comes to implementing genetic testing on a large scale, the thought of what to do with all the data can be daunting to clinicians and public health officials alike. As of yet, no system has been implemented to deal with the sheer amount of information. But researchers interested in how genomics can benefit public health have begun to develop a few ideas.

James Evans at the University of North Carolina School of Medicine has a plan that could help tame whole-genome sequencing data and make it more palatable to doctors and their patients. "The biggest thing that people worry about with respect to the implementation of genomic technologies, either in public health or in clinical medicine, is it's a lot of data," he says. "My idea is that the only way we can handle that amount of data is to break it up into manageable pieces."

Evans, who debuted his idea at the Centers for Disease Control and Prevention's Genomics and Public Health conference in Maryland in December, has proposed a binning system, in which genetic tests are split up according to their clinical utility, or how much a doctor and patient can act on the information obtained from them.

The first bin would include genetic tests that produce medically actionable results, such as the BRCA1 and BRCA2 gene test or tests for familial hyper-cholesterolemia. "We know that if a person has a mutation in such a gene that they're at a high risk [for disease], and we can dramatically reduce their risk by implementing surveillance protocols," Evans says.

The second bin would be reserved for tests that have implications for family planning, such as a test for Tay-Sachs disease. The third would house tests that may have some medical utility, but could also reveal potentially concerning or sensitive information that patients may not want to know — the ApoE gene test, for example. In the fourth bin, there would be tests for genes that could increase a person's risk for disease, but that clinicians can do nothing about.

The fifth and final bin would contain everything else, he adds, which would be the "vast majority" of the information obtained from a whole-genome sequence. "If we don't know what to do with something, then we shouldn't do anything with it," Evans says. "It's bad medicine to start acting on all these things when we don't know their significance."

Researchers are getting comfortable enough with whole-scale genomic sequencing to consider implementing such a system, Evans adds. There's no reason why others can't come up with their own systems and structures to suit the problem. "I don't want to imply that my system is the end of the discussion," Evans says. The next step would be to create a forum where interested stakeholders and experts can talk about the issue and create a system. "The key to operationalizing it is getting the right people in a room together," Evans adds.

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