Insurance Fears Lead Many to Shun DNA Tests

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Insurance Fears Lead Many to Shun DNA Tests

n Smialowski for The New York Times

http://www.nytimes.com/2008/02/24/health/24dna.html?

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, seen in a checkup last week, developed a blood

clot last year partly due to an undiagnosed genetic condition.

Grove wanted to find out if she was destined to develop the

form of emphysema that ran in her family, but she did not want to ask

her doctor for the DNA test that would tell her.

She worried that she might not be able to get health insurance, or

even a job, if a genetic predisposition showed up in her medical

records, especially since treatment for the condition, alpha-1

antitrypsin deficiency, could cost over $100,000 a year. Instead, Ms.

Grove sought out a service that sent a test kit to her home and

returned the results directly to her.

Nor did she tell her doctor when the test revealed that she was

virtually certain to get it. Knowing that she could sustain permanent

lung damage without immediate treatment for her bouts of pneumonia,

she made sure to visit her clinic at the first sign of infection.

But then came the day when the nurse who listened to her lungs

decided she just had a cold. Ms. Grove begged for a chest X-ray. The

nurse did not think it was necessary.

" It was just an ongoing battle with myself, " recalled Ms. Grove, of

Woodbury, Minn. " Should I tell them now or wait till I'm sicker? "

The first, much-anticipated benefits of personalized medicine are

being lost or diluted for many Americans who are too afraid that

genetic information may be used against them to take advantage of its

growing availability.

In some cases, doctors say, patients who could make more informed

health care decisions if they learned whether they had inherited an

elevated risk of diseases like breast and colon cancer refuse to do

so because of the potentially dire economic consequences.

Others enter a kind of genetic underground, spending hundreds or

thousands of dollars of their own money for DNA tests that an insurer

would otherwise cover, so as to avoid scrutiny. Those who do find out

they are likely or certain to develop a particular genetic condition

often beg doctors not to mention it in their records.

Some, like Ms. Grove, try to manage their own care without confiding

in medical professionals. And even doctors who recommend DNA testing

to their patients warn them that they could face genetic

discrimination from employers or insurers.

Such discrimination appears to be rare; even proponents of federal

legislation that would outlaw it can cite few examples of it. But

thousands of people accustomed to a health insurance system in which

known risks carry financial penalties are drawing their own

conclusions about how a genetic predisposition to disease is likely

to be regarded.

As a result, the ability to more effectively prevent and treat

genetic disease is faltering even as the means to identify risks

people are born with are improving.

" It's pretty clear that the public is afraid of taking advantage of

genetic testing, " said Dr. Francis S. , director of the

National Human Genome Research Institute at the National Institutes

of Health. " If that continues, the future of medicine that we would

all like to see happen stands the chance of being dead on arrival. "

Caught in a Bind

For Ms. Grove, 59, keeping her genetic condition secret finally

became impossible. When her symptoms worsened she was told to come

back to the clinic before antibiotics would be prescribed. But there

had been a snowstorm that day, and she could not summon the strength

to drive.

" I have alpha-1, " she remembers sobbing into the phone. " I need this

antibiotic! "

The clinic called in the prescription.

Ms. Grove, who does freelance accounting from home and has health

insurance through her husband's employer, allowed herself to be

identified here because she said she felt an obligation to others —

including some in her own family — to draw attention to the bind she

sees herself in.

" Something needs to be done so that you cannot be discriminated

against when you know about these things, " she said. " Otherwise you

are sicker, your life is shorter and you're not doing what you need

to protect yourself. "

Employers say discrimination is already prohibited in the workplace

by the Americans with Disabilities Act and existing laws governing

privacy of medical records. But employee rights advocates say nothing

in those laws explicitly prevents employers hard-pressed to pay for

mounting health care costs from trying to screen out employees they

know are more likely to get sick.

Courts have yet to rule on the subject. When the Equal Employment

Opportunities Commission sued the Burlington Northern Santa Fe

Railway for secretly testing the blood of employees who had filed

compensation claims for carpal-tunnel syndrome in an effort to

discover a genetic cause for the symptoms, the case was settled out

of court in 2002.

And in 2005 when Eddy Curry, then the center for the Chicago Bulls,

refused a genetic test to learn if he was predisposed to a heart

ailment, the team traded him to the New York Knicks.

Insurers say they do not ask prospective customers about genetic test

results, or require testing. " It's an anecdotal fear, " said Mohit M.

Ghose, a spokesman for America's Health Insurance Plans, whose

members provide benefits for 200 million Americans. " Our industry is

not interested in any way, shape or form in discriminating based on a

genetic marker. "

Still, a recent study by the town University Health Policy

Institute found otherwise. In 7 of 92 underwriting decisions,

insurance providers evaluating hypothetical applicants said they

would deny coverage, charge more for premiums or exclude certain

conditions from coverage based on genetic test results.

Regardless of whether discrimination actually occurs, many health

care professionals say the pervasive anxiety over it demands

legislative action. Geneticists complain that discrimination fears

prevent them from recruiting research participants, delaying cures

and treatments for disease. At Memorial Sloan-Kettering Cancer Center

in New York, the same concern is a leading reason people cancel

appointments for tests that detect cancer risk.

" We are dealing with potential lifesaving interventions, " said Dr.

Offit, chief of the center's clinical genetics service. " It's

a tragedy that people are being scared off by this. "

The Genetic Information Nondiscrimination Act, which passed the House

of Representatives by a wide margin last year, would prohibit

insurers from using genetic information to deny benefits or raise

premiums for both group and individual policies. (It is already

illegal to exclude individuals from a group plan because of their

genetic profile.) The bill would also bar employers from collecting

genetic information or using it to make decisions about hiring,

firing or compensation. But it has yet to reach the Senate floor.

Meanwhile, a $300 genetic test for prostate cancer risk announced

last month immediately drew callers to a public radio station in

Washington that was discussing the test, voicing fears of insurance

discrimination. Dr. Karim Kader, who made the test possible with his

discovery that men who carry certain DNA variants are four to five

times likelier to develop prostate cancer, assured one caller that

the test would be " very private. "

For some, that is not good enough.

Vahdat, director of the breast cancer research program at

NewYork-Presbyterian Hospital/Weill Cornell Medical Center, estimates

that 20 percent of her patients choose to pay for the DNA test for

inherited breast cancer risk with cash, to avoid submitting insurance

claims.

And last year, hundreds of customers paid the start-up company DNA

Direct for tests that range in cost from $175 to $3,456 to ensure

that no third party, not even a doctor, had access to their results.

, a freelance camera assistant in Brooklyn, for instance, sent a

swab of her cheek cells to DNA Direct to find out if her extreme

fatigue was caused by hemochromatosis, a genetic condition in which

the body retains too much iron.

" I would rather not lay out the $200 myself, " said , who

requested that her last name be withheld for the same reason she paid

for her own test. " But it seemed safer. "

Treatment for hemochromatosis typically involves removing a unit of

blood twice-weekly by phlebotomy. But that would mean disclosing the

condition to a doctor, so is planning on becoming a frequent

blood donor.

Kathy, a financial analyst in Houston who would like to know if she,

like her two sisters, has a genetic predisposition to breast cancer,

said she was not going to take even an anonymous test. " Then, " she

said, " I'm just in a position of having to lie. "

The culture of secrecy around genetic information is stronger in the

United States, some experts say, than in countries where people are

guaranteed health care. Among Americans at risk for Huntington's

disease, an incurable brain disorder, only 5 percent take the DNA

test to determine if they will develop it, compared with 20 percent

of Canadians in the same position, according to R. Hayden, a

professor of human genetics at the University of British Columbia in

Vancouver.

Here, doctors often feel obligated to inform patients of the

potential financial downside.

" I always warn them, " said Dr. Moll, director of the

Thrombophilia Program at the University of North Carolina, who uses a

genetic test to determine the best treatment for patients with blood

clots. " Especially if they are self-employed, I don't want it to be a

surprise if their health insurance premium goes up. "

Unknown Risks

After receiving a similar warning from her doctor,

's parents did not allow her to be tested for Factor V

Leiden, a genetic condition she might have inherited from her father

that increases the risk of blood clots.

But last year, with nothing in Ms. 's record to indicate

reason for concern, a gynecologist prescribed a birth control pill to

regulate her uneven periods. Six weeks later, Ms. , then 16,

developed a clot that stretched from her knee to her abdomen. The

pill, combined with the gene she had indeed inherited, had increased

her clotting risk by 30-fold.

Now largely recovered, her primary concern is whether she will be

viewed as a health insurance liability for the future.

" I don't want to have to work for a big business just to get

insurance, " she said. " This could be determining what I can do for my

whole life. "

For Judith Berman Carlisle, the price of privacy was forgoing the DNA

test that would have convinced her not to have surgery. Ms. Carlisle,

48, who was setting up her own therapy practice, was afraid testing

positive for the high-risk breast and ovarian cancer gene that runs

in her family would prevent her from buying health insurance.

But her sister had developed ovarian cancer the year before, an aunt

had died of it, and Ms. Carlisle was desperate not to get it herself.

Her doctor agreed to remove her ovaries based on her family history —

the way such decisions were commonly made before a genetic test was

available.

Ms. Carlisle was convinced the surgery would be less damning than

proof that she carried a defective BRCA1 gene, which also confers a

very high chance of developing breast cancer.

" There's a big difference between someone saying, `I have a strong

family history,' " Ms. Carlisle said, " and saying, `I only have a 13

percent chance of not getting breast cancer during the time you're

insuring me.' "

Last fall, after the surgery to remove her ovaries, she began to

consider a double mastectomy to remove any chance of breast cancer,

the disease her grandmother and another aunt had died of. Having

secured health insurance, she took the test for the BRCA1 mutation.

It came back negative.

" The first thing they said to me, " Ms. Carlisle said, " is that I have

no higher risk than anyone on the street. "