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.
That leaves many patients who may be at risk for inherited diseases fearful that a positive result could be used against them.
There is no way of knowing how many people fall into this category, but experts say such concerns are mounting.
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.
Not everyone is convinced that such discrimination is a major problem.
“There’s this theoretical risk,” said Dr. Leslie G. Biesecker, a chief investigator at the National Human Genome Research Institute, adding that he was not aware of anyone who had faced discrimination after participating in genetic research.
“Participants are more likely to be in serious car crash going to or from the research center,” he said.
But Dr. Robert L. Klitzman, at Columbia University, says genetic discrimination can be subtle.
“Someone may not know exactly why they were turned down,” he said. “Or patients who have been discriminated against may not go public because then they’d be letting everyone know they have X mutation.”
