BehindTheMedspeak — Minority [Medical] Report: The Rise of Pre-Disease (DNA-Style)

Long story short: look at the headline of Bonnie Rochman's October 26, 2012 TIME article : "Why Cheaper Genetic Testing Could Cost Us a Fortune."

I couldn't have said it any better (that's why God invented quotation — but I digress).

You can test for possibilities but once you have them then what do you do with the information?

One answer is the many women who, upon learning they have breast cancer and the most dangerous DNA-coded variant of the gene associated with the disease, electively choose to have their completely healthy other breast removed.

The more you test, the more possibilities you open up for intervention.

And in the end, your knowledge brings you not power but to your knees — and possibly even your grave.

Excerpts from the TIME piece follow.

Unlocking the secrets of human DNA is one of the most promising avenues of medical research. But along with a host of scientific and ethical issues, genome sequencing raises some tough economic questions at a time when U.S. health care costs are already spiraling. How much is this going to cost, and who’s going to pay?

Whole-genome sequencing (WGS) is already relatively inexpensive — labs can analyze a person’s entire genetic code for under $10,000 — and the cost is dropping fast. But for some patients, this initial DNA report is the beginning, not the end, of their medical odyssey.

In an ideal scenario, genetic analysis could save money by catching diseases early, offering targeted treatments and underscoring the most effective preventive measures. In the worst case, it could deluge an already swamped health care system, as patients with ambiguous results begin to seek frequent screenings — and potentially unnecessary procedures — for diseases they might never develop. Princeton health care economist Uwe Reinhardt sees a future that skews toward the latter: "If someone held a gun to my head, I would have to say it will cost a lot more and it will create an enormous amount of anxiety. A certain amount of ignorance is really bliss."

More than half of the 1,254 doctors surveyed this year by UnitedHealthcare said they think new genetic tests will increase overall health care spending; just 1 in 5 think the tests will lower costs. One of the country’s largest insurers, UnitedHealthcare estimates the U.S. spent more than $5 billion on genetic testing in 2010. By 2021, the company says, total spending on genetic testing could rise to $25 billion, a figure based in part on its prediction that WGS will become widely available soon.

For now, scanning a patient’s entire genome is cutting-edge technology, and health insurers rarely cover it. The reason, industry officials say, isn't the cost; they note that insurers already cover hundreds of expensive tests targeting specific genes. Rather, the insurers say they’re cautious because the technology is new and unproved; they also share the CDC’s concern that geneticists don't yet know how to interpret all the results.

Slight differences, or variants, in people’s genetic code are what make us unique. Some of these differences are known to increase the risk of disease; others don't seem to matter. “Everyone has in the neighborhood of 3 million variants,” says Dr. Joanne Armstrong, senior medical director of Aetna. “Of those variants, there’s a significant chunk where we’re not sure what they mean. So it's kind of noise vs. signal.”

Consider full-body MRIs, for example, which have been shown to generate false positives that lead to unnecessary tests. The same would be true if sequencing is used indiscriminately, says Dr. Jim Evans, a professor of genetics and medicine at the University of North Carolina at Chapel Hill and the editor-in-chief of Genetics in Medicine. "98% of us have very boring genomes," he says. “Most diseases have a genetic component, but your genomic information provides precious little in the way of tangible guidance for you to live a healthy life. You don’t need to sequence someone's genome to tell them they should be exercising and eating right."

Yet studies indicate that most people want tests that can predict their risk of future disease, even if learning about those risks offers no leg up on treatment. A study published in 2010 in Health Economics found that up to 88% of people said they would like to take a test that could foretell their odds of developing arthritis, Alzheimer’s and other diseases.

What those survey respondents probably didn't know is that getting those test results could make it hard for them to buy life insurance, disability insurance or long-term-care insurance. In 2008, Congress passed the Genetic Information Nondiscrimination Act (GINA), which prohibits health insurers or employers from genetic discrimination. But neither that law nor the Affordable Health Care Act that came after it applies to other kinds of insurance. "I have a patient who is at 50% risk of a certain disease, but he does not want the test because he fears being unable to get disability insurance," says Evans.

As sequencing moves toward the mainstream, GINA may need to be broadened to include other types of insurance. That won’t be easy. Congresswoman Louise Slaughter, an 83-year-old microbiologist from New York who sponsored the legislation, describes how opposition from insurance companies led her to focus on protecting people’s jobs and their health insurance instead of casting a wider net. "One of the most important things in the bill is that you can’t be denied coverage for pre-existing conditions," says Slaughter, whose office has been discussing whether it's time to start making noise about expanding GINA. "There’s nothing more pre-existing than genes."

Meanwhile, experts are looking for ways WGS can make health care more efficient. "Most of the people who talk about cost implications talk about how much it costs to do the test," says Dr. Katrina Armstrong, a professor at the University of Pennsylvania’s Perelman School of Medicine. "But an enormous amount of how this will impact health care is how it will influence who should get other expensive treatments."

Another area in which WGS might end up saving money is in assessing the 50,000 babies born in the U.S. each year with hard-to-diagnose disorders. It often takes three to five years to determine what’s causing the baffling symptoms in these children.

It’s hard to place a price tag on the emotional benefits of knowing what’s wrong.