About 700,000 Americans have had their DNA sequenced, in full or in part, and the number is rising rapidly as costs plummet -- to $1,000 or less for a full genome, down from more than $1 million fewer than 10 years ago.
But many people are avoiding the tests because of a major omission in the 2008 federal law that bars employers and health insurers from seeking the genetic testing results. The Genetic Information Nondiscrimination Act, known as GINA, does not apply to three types of insurance -- life, disability and long-term care -- that are especially important to people who may have serious inherited diseases.
The act's sponsors say they were aware of the omission, but that after a 14-year effort to write and pass the law, they had to settle for what they could get. That leaves many patients who may be at risk for inherited diseases fearful that a positive result could be used against them.
They include Brian S., 33, a Pennsylvania surgical resident, who has a 50 percent chance of carrying a genetic mutation that causes Cadasil, a fatal neurological disorder that affects his mother. "I kind of want to get tested," Brian S. said, speaking on condition that his last name and other identifying details be withheld. But because he wants to apply for life and long-term care insurance, he has decided against it.
There is no way of knowing how many people fall into this category, but experts say such concerns are mounting.
A Harvard Medical School genetics researcher, Robert Green, studied the behavior of those who had recently learned that they carried a genetic marker predisposing them to early Alzheimer's disease. They were five times as likely to buy long-term-care insurance as those in a control group. But while patients seek the protection insurance offers, many are concerned about the possibility of paying higher premiums or being denied coverage because of the known existence of a dangerous mutation.
"The fear is potent in our society that insurance companies are asking," Dr. Green said.
Just three states -- California, Oregon and Vermont -- have broad regulations barring use of genetic data in life, long-term care and disability insurance.
Even if most insurers are not asking now, they do seek out medical records and can use genetic test results listed there. By contrast, under the federal law, an employer who asks for an employee's records must tell the provider to withhold genetic data.
Consumer advocates say federal legislation is needed to assure safety to participate in genetic research and testing.