Growing craze for DNA sequencing

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 less than a decade 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 results of genetic testing.

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. Sponsors of the act say that they were well 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, a 33-year-old surgical resident in Pennsylvania, who has a 50 percent chance of carrying a genetic mutation that causes Cadasil, a fatal neurological disorder that afflicts his mother.

“I kind of want to get tested,” Dr S said, speaking on the 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.

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Moot to real

“It was all moot a few years ago,” said Dr James P Evans, a professor of genetics at the University of North Carolina, Chapel Hill. “It’s suddenly now become real because people increasingly have access to what’s in their genomes.”

Dr Robert C Green, a genetics researcher at Harvard Medical School, studied the behaviour of those who had recently learned they carried a genetic marker that predisposes 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 that insurance offers, many are concerned about the possibility of paying higher premiums or being denied coverage altogether because of the known existence of a dangerous mutation.

“The fear is potent in our society that insurance companies are asking,” Dr Green said. “The No. 1, 2 and 3 issue that subjects are concerned about is, will they be discriminated against if this is in their medical record?”

Just three states — California, Oregon and Vermont — have broad regulations prohibiting the use of genetic information in life, long-term-care and disability insurance. At least one insurer, the Northwestern Mutual Life Insurance Company, asks potential customers in Massachusetts about genetic testing — and stipulates that refusing to share results could lead to a declined application or an extra premium.

At least for now, 12 other companies ask no explicit questions about genetic testing. But when Dr Green asked company executives why not, he said, “at least one of them has told me, ‘We would do this, but we don’t want to be the first.' ” Still, he added, “you can imagine a world where millions of people have this information, and that would reach a tipping point that the insurance companies can no longer ignore.”

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 any genetic information.

Robin Bennett, a genetics counselor at the University of Washington, sees patients almost every day who express fears about how their test results might be used.

Some ask, “could we not put it in their medical records,” she said, “but they don’t realize that if we’re going to take action on their information” — such as preventive surgery to lower risk for breast cancer — “it has to be in their records.”

The American Medical Association’s code of ethics states that “it may be necessary” for doctors to maintain a separate file for genetic test results so the information is not sent to insurers.