If it weren't for the protective instincts of a railroad laborer's wife, the Burlington Northern Santa Fe Corp. might still be running a genetic testing program on unwitting workers who claim their jobs gave them carpal tunnel syndrome.
But after Janice Avary asked the right questions about a medical exam the railroad demanded of her husband, Gary, Burlington Northern stopped the tests--and the Avarys became Exhibit A in a legal battle that could shape the way the nation regulates genetic testing and the use of the results.
The U.S. Equal Employment Opportunity Commission credits the 47-year-old Nebraska nurse with making a discovery that could lead to the first court test of the agency's 6-year-old position that the Americans With Disabilities Act protects workers from genetic discrimination.
In agreeing to halt the tests, Burlington Northern said it never intended to use the results to determine a worker's fitness for a job.
Since EEOC filed its court motion earlier this month, three members of Congress renewed an effort to outlaw the use of genetic information against people in the workplace or in obtaining health insurance.
The bills were defeated last session in part because opponents argued it wasn't happening.
"Genetic testing is a real and frightening problem, and it is happening right now," Sen. Edward M. Kennedy (D-Mass.) said when he reintroduced the Genetic Nondiscrimination in Health Insurance and Employment Act. "And the testing was being conducted by one of the largest railroads in the country."
Before the railroad tests became public, there was only one known case of an employer conducting genetic tests, said Jeremy Gruber, legal director of the National Workrights Institute. The Lawrence Berkeley Laboratory was accused in a lawsuit of testing thousands of unsuspecting job applicants for genetic and other conditions and settled in 1999 for $2.2 million.
"There is no case law on this," Gruber said. "This is an area of the ADA that is the great wide open."
In a whirlwind at the center of that great wide open is Janice Avary, a grandmother who has spent most of her life within a 40-mile radius of where she was born. She and her husband live off a country highway in Alma, near the Kansas state line, 200 miles west of Lincoln, the nearest city of any size. The couple took their first airplane trip two weeks ago to visit a Minneapolis lawyer about the case.
It's been a bit overwhelming for the Avarys, whose lives were once consumed by work, family barbecues and doting on their three daughters and grandson.
"Gary and I didn't ask for any of this," she said. "Just a few questions answered was all I wanted."
But the answers turned it into something more.
"If I wouldn't have been married to Janice Avary, Burlington Northern would still be doing this," Gary Avary said. "We're on a mission to make sure this happens to no one else. Somebody's got to do it."
Within the family, Janice Avary's role in exposing the genetic testing has invited comparisons to the heroine of an Oscar-nominated movie starring Julia Roberts. Oldest daughter Marie said, " 'Gosh Mom, what are you, the next Erin Brockovich?' " Janice Avary said. "I said, 'What?'
"She said, 'That movie we watched awhile back.' I said, 'Oh Lord!' "
The moment lightened what otherwise has been a serious ordeal for the family. It began last year when two trains derailed within a month of each other in central Nebraska, where, for 27 years, Gary Avary has helped maintain the same 100 miles of track in Burlington Northern's 33,500-mile system.
Working against the clock, the 46-year-old track laborer said he spent several hours a day tying new track together with bolts he tightened by squeezing the trigger of an impact wrench.
Among rail gangs, it's also known as a "rattle wrench," a reference to the powerful vibration of its torque.
Born left-handed, Gary Avary learned to use his right as a child, so he said he was able to switch hands when the rattle got too much. Still, he said, "I was just beating the crap out of my hands."
Alone, any one of the elements of the job--repetition, a tight grip, vibration and impact--are known to increase the risk of swelling in the wrist, which compresses the nerves traveling through a corridor called the carpal tunnel. "And the combination of factors is stronger than individual factors alone," said Dr. Linda Rosenstock, dean of the UCLA School of Public Health and former director of the National Institute of Occupational Safety and Health.
The tips of Gary Avary's fingers began to go numb, to the point that, he said, "I could bite down on the ends of my thumbs and it wouldn't even hurt."
Fine motor skills eluded him. He fumbled trying to attach valves to track-laying equipment, Gary Avary said. A doctor diagnosed carpal tunnel syndrome, aggravated by work, and recommended surgery to relieve pressure on the nerves, he said.
The railroad approved the Sept. 28 operation on his right wrist and hand, Gary Avary said. He took three weeks off and went back to work. The railroad then sent a letter requesting his medical records, which Gary Avary faxed to headquarters in Fort Worth.
On Dec. 7, he got another letter from the railroad, this one instructing him to see a doctor in Lincoln for "additional, objective medical information to determine whether or not your condition is work-related."
The letter said the evaluation "will include laboratory testing and may include X-rays and a nerve conduction test."
It did not mention a blood test, but Janice Avary assumed that's what "laboratory testing" meant. She wondered why her husband wasn't instructed to fast, as she routinely reminded patients, to ensure accurate results.
Another section laborer who had undergone the exam told the Avarys that seven vials of blood were drawn, quite a bit more than was necessary for the tests Janice Avary was familiar with.
Mention of Genetic Tests Triggered Her Suspicion
On Jan. 3, two days before the scheduled exam, Gary Avary went to work, and Janice Avary began making calls. "I was just intent on protecting my husband. There was no way he was going to have all these tests when he's already had this surgery done," she said.
Janice Avary started by calling a medical liaison in Nebraska who had set up the exam for the railroad. "I simply requested a list of the lab tests that were to be done, and she never volunteered to send them to me.
"And I said, 'What are they looking for?' " Janice Avary recalled. "She named a couple of everyday lab tests and possible genetic tests. And that was the trigger right there."
At the Harlan County Hospital, where there is one nurse per shift, Janice Avary works everything from the bedside to the operating room. She's prepped her share of patients for blood tests.
"I make a point that my patients always know what we're doing to them and why we're doing it to them. And I explain to them that it is up to you. You always have a choice," she said. "That's what this whole thing is about."
When Janice Avary asserted that the test could not be done without her husband's permission, she said the woman referred her to the railroad's headquarters. Janice Avary said she was told if Gary Avary refused the exam, he could face an investigation for insubordination.
Janice Avary hung up and called a lawyer.
"I said, 'Oh no, I'm making him lose his job, and he won't even know it before he comes home today,' " Janice Avary said.
After Gary Avary calmed her down, she told him what she'd learned. Married 28 years, a year longer than Gary Avary has worked for the railroad, they decided together that he would not go to Lincoln.
"If they think the track people were naive out here, they've run up against the wrong people," Gary Avary said.
He filed a complaint with the EEOC. As word of the genetic tests spread, five workers complained to the EEOC that they had given blood during medical exams but were unaware of its ultimate use.
The Brotherhood of Maintenance of Way Employees, a union representing 8,000 Burlington workers, tracked down Harry W. Zanville, a lawyer it had used several years ago before he left his Iowa practice to sail the Caribbean.
Zanville had returned stateside months earlier and was living on his 47-foot yacht, "Impulsive," in a marina near San Diego.
"They said, 'There's coerced genetic testing going on.' I said, 'Why don't you get someone to stop it?' They said, 'We did. You're it,' " recalled Zanville, who put together a lawsuit for the union demanding the tests' end.
"This was an outrageous violation of people's privacy," Zanville said. "The legal issues are pretty significant, so this was hard to resist."
The union and the EEOC were still investigating when Gary Avary got a letter from the railroad to report to his roadmaster's office "for the purpose of ascertaining the facts and determining your responsibility, if any, in connection with the alleged failure to comply with" the examination letter.
That prompted the EEOC to go to court on its first challenge of genetic testing.
Within days the railroad announced it had halted the program after about 20 workers had undergone genetic testing.
The workers were among 125 who had filed reports since last March that their jobs had caused carpal tunnel injuries, said Richard Russack, railroad spokesman.
Russack said the company sought the tests in an effort to determine the cause of the injury in cases in which there was insufficient information.
The tests were conducted by Athena Diagnostics, Russack said. According to its Web site, the Massachusetts company charges $1,195 for each test.
Several employees refused the tests but none was disciplined, Russack said.
Gary Avary "was scheduled to have an investigation, which I've referred to as a meeting. He was not scheduled for a disciplinary hearing," Russack said. "It was going to be a discussion to find out why he didn't take the medical exam, which I think is a legitimate question to ask but I do not believe will take place."
The gene marker was not found in any of the workers tested, Russack said.
But even if the marker were found, the test's validity as a screen for carpal tunnel syndrome is open to debate.
Geneticist Says His Test Was Being Misused
"If they had just bothered to call me I could have saved them a lot of money and a lawsuit they richly deserve," said Dr. Phillip Chance, the chief of developmental genetics at Children's Hospital and Regional Medical Center, and professor of pediatrics and neurology at the University of Washington in Seattle.
In 1993, Chance discovered a genetic marker for a moderately rare neuromuscular disorder, known as hereditary neuropathy with liability to pressure palsies, or HNPP.
The disorder can manifest itself in periodic bouts of arm and leg palsies including, but never limited to, carpal tunnel syndrome. Chance and other geneticists said a test for the marker, a missing piece of chromosome 17, would be of little to no value in screening workers for carpal tunnel injuries.
Chance was horrified to learn that the test was being used in such a way, and said it could discourage people from participating in research out of fears about how the results would be used.
"A lot of us hope this work could be a prelude to a treatment that might prevent the onset or diminish the progression of illness. The idea is to work to help people," Chance said. "So what the railroad company has done is really a perversion."
Job-related carpal tunnel injury is one of many the railroads are required to report to the Federal Railroad Administration. Workers are required by the company and federal law to report on-the-job injuries, Russack said.
The reports can be used as a basis for claims for lost wages and medical costs, he said.
"The important message is that this was not being done in order to ascertain a person's ability to do the job," he said. Nor "was it going to determine their employment status, which was the basis of the EEOC suit."
Zanville said the union could pursue its case in states where workers were examined depending on the outcome of the lawsuit it filed in federal court in Iowa. A majority of states have yet to address genetic discrimination. A few, including California, ban genetic discrimination and employer testing. About 20 ban genetic discrimination.
The implications of the case go beyond the courts, said Dr. Paul Billings, co-founder of Genesage, a San Francisco-based company developing practical applications of genetics.
Aside from the Berkeley lab case, "this is the largest case I'm aware of where the genetic information was being used in a potentially negative way," he said. "Those are the things that, if repeated in other settings, will bring to a grinding halt the marketplace for genetic testing."
Rep. Louise McIntosh Slaughter (D-N.Y.), who introduced the genetic discrimination ban in the House, said what happened at Burlington Northern could reinforce widespread reluctance among Americans to get medically indicated genetic tests out of fear the results could be used against them.
"The Burlington Northern case is really indicative of what we're trying to stop," Slaughter said. "We're afraid without legislation that more of that will happen."