is an important externality, Evans said, in deciding whether to do whole genome sequencing on everyone. Furthermore, different people will make these decisions differently, and these decisions are even more difficult when parents and children are involved.
Evans briefly described several social challenges to genomic screening. Genetic discrimination remains a concern. In the United States, the Genetic Information Nondiscrimination Act of 2008 protects against discrimination in medical insurance and in the workplace, but no such protections exist for long-term care insurance, disability insurance, or life insurance.
Widespread genetic testing poses the threat of allelism—that people will be defined by their genetic sequences and by the traits those sequences produce rather than by the qualities that truly matter in a person.
About 20 percent of the human genome has patent claims, which means that whole genome sequencing has the potential of being interpreted as violating multiple patents, said Evans.
Widespread testing would pose privacy issues because genomic information is digital and would be easy to distribute. Who will control and have access to this information?, Evans asked. People who volunteer for genetic tests can become upset, for example, if they learn that their genomic information is the property of a private company.
In the end, Evans concluded, whole genome sequencing is just another medical test. It is a highly complex test with great potential, but claims that everyone will undergo genome sequencing are based on high perceived utility and low cost, and for now only the low cost is being realized. “The old adage that an elephant for a nickel is only a bargain if you have a nickel and you need an elephant applies here. I am not sure most of us need that elephant. Even if free, perceived low cost is an illusion, because the misapplication of medical tests—and make no mistake, whole genome sequencing is a medical test—is very expensive,” he said.
Genomic testing is likely to be applied as other medical tests are: when and if the situation warrants. Genomic analysis of a panel of variants could be useful in nondiagnostic settings. But Evans argued against burdening the health care system with a flood of extraneous information that cannot yet be interpreted and that may not be welcomed by many people. Ultimately, much more high-quality, outcome-based information on the uses of genomic tests is needed, he concluded.