GENETIC TESTING
June 7, 2001

A look at the ethics behind testing for genetic diseases. The NewsHour Health Unit is funded by a grant from The Henry J. Kaiser Family Foundation.

 

An Online Focus on Genetic Research Feb. 12, 2000: Filling out the map July 3, 2000: Genome rough draft announced July 3, 2000: Genome Ethics June 26, 2000: Success June 16, 2000: The Race to Sequence the Genome Extended Excerpts: J. Craig Venter Francis Collins Stelios Papadapoulos April 6, 2000: Sequencing the Genome March 21, 2000: Author Matt Ridley in an Online Forum about the Human Genome Project. March 16, 2000: Should companies be able to use findings on the human genome for profit? Feb. 29, 2000: Author Matt Ridley and his book on the human genome Feb. 2, 2000: Does gene therapy have harmful side affects? Dec. 8, 1999: The growing gene therapy controversy. Dec. 2, 1999: Progress in deciphering the human genome. July 10, 1998: Do DNA databanks violate the rights of defendants? The Online NewsHour Health Spotlight Browse the NewsHour's coverage of Science and Health issues   NewsHour Extra: What is the genome and what do we do with it?     The National Human Genome Research Institute Celera Genomics	SUSAN DENTZER: The fruits of the genetic revolution are on display here at Genzyme, a leading global biotechnology company. At a Genzyme facility here in Massachusetts, workers screen blood samples of patients who want to find out if they're carriers for genetic diseases. In this lab tests are under way for genetic mutations that could lead to cystic fibrosis, a devastating and frequently fatal disease. Elliott Hillback is a Genzyme official. ELLIOTT HILLBACK, Genzyme Executive: Recently the recommendation has been made that any couple planning to start a family ought be screened to see if they' carriers for cystic fibrosis so that they're knowledgeable and aware and can make informed choices, because that's really what everything's about, is better information for doctors and their patients so that they can make better health care choices, better choices for their own health. SUSAN DENTZER: That's the upside of genetic testing: The ability to find out what glitches in your DNA might mean for your health or your family's. Then there's the downside.
	Testing for knowledge
	TERRY NELSON: I feel kind of violated. They did stuff to me they probably should have never have done. SUSAN DENTZER: Terry Nelson is a maintenance worker for Burlington Northern Santa Fe Railroad; he was one of 35 BNSF railroad workers who the railroad has admitted were quietly given genetic tests, tests that were ordered up a railroad official without telling the workers or asking their permission first. Steve Keil was another railroad worker who was tested. STEVE KEIL: It was wrong. They should have told me. I didn't know they were doing DNA test stuff. SUSAN DENTZER: The case began last year, after Nelson, Keil, and number of other BNSF workers were diagnosed with work-related carpal tunnel syndrome. That's a condition that results when there's too much pressure on a nerve that runs from wrist to hand through an opening called the carpal tunnel. Often the result of years of repetitive activity such as wielding a wrench or operating a jackhammer, it can cause substantial discomfort to people like Nelson who are diagnosed with it. TERRY NELSON: Numbness and tingling that a person gets in the middle of the night and stuff. They made an incision here. SUSAN DENTZER: Nelson had surgery last December to cut a ligament in the wrist and relieve pressure on the nerve. He took several weeks off, and went back to work in February. Although Nelson reported the condition to BNSF as a work- related injury, the railroad didn't pass along the report to the government, as required by law. In fact, of roughly 125 such reports of work-related carpal tunnel syndrome that the company says it received since March, 2000, none were reported to the government. Burlington Northern officials declined our request to be interviewed on camera, but they told us in a letter that the company was first obligated by federal law to determine whether the injuries were work-related. To do that, the company explains, Burlington Northern's chief medical officer, Dr. Michael Jarrard, developed a comprehensive medical examination and sent letters to 35 workers, asking them to undergo it. The workers were to be screened by company-paid doctors for any of about 20 medical conditions ranging from diabetes to alcoholism. Russell Ingebritson is a Minneapolis attorney who's representing many of the Burlington Northern workers in a planned private lawsuit against the company. RUSSELL INGEBRITSON, Workers' Attorney: What this examination does here is to cast a wide medical drift net looking for any condition that could conceivably produce symptoms that would be similar to those of work-related carpal tunnel syndrome. SPOKESPERSON: Put the samples in. SUSAN DENTZER: In addition to the medical exams, the workers' blood was drawn for a genetic test. The blood samples were placed in a test kit much like this one that we were shown at Genzyme. The blood was sent to Athena Diagnostics, a Massachusetts company that even advertises its genetic tests on the Web. There, a test was performed to determine if the workers had a rare genetic condition called hereditary peripheral neuropathy. One of the many symptoms of the condition is carpal tunnel syndrome. TERRY NELSON: They took seven vials of blood. SUSAN DENTZER: Did they tell you why? TERRY NELSON: No. SUSAN DENTZER: Did you ask? TERRY NELSON: No. It was part of the physical - well, I thought it was kind of bizarre that they had taken much blood, but that's... I didn't... Didn't know. SUSAN DENTZER: Another railroad worker, Gary Avery, found in advance about the test and declined to be examined. He then got a threatening letter from the company, says Attorney Ingebritson. RUSSELL INGEBRITSON: We anticipated, and he had been told, that he would be fired as a result of his refusal. To refuse to go along with the test is deemed by the railroad to be insubordination and grounds for termination.
	EEOC lawsuit
	SUSAN DENTZER: Burlington Northern's actions are now at the heart of a groundbreaking lawsuit brought by the Equal Employment Opportunity Commission. The EEOC alleges that the railroad violated provisions of the Americans with Disabilities Act. Paul Miller is one of three sitting EEOC commissioners. PAUL MILLER: In order for a company to engage in medical testing or inquiries, the tests need to be job-related and consistent with business necessity. That's the standard set out in the Americans with Disabilities Act. And to have some sort of future marker for a disabling condition is not really related to one's ability to do the job. SUSAN DENTZER: The commission won a first-round victory in April, when Burlington Northern admitted that it had tested the workers. The company also agreed under court seal to stop all further genetic testing. But the EEOC is still investigating separate charges that Burlington Northern discriminated against one of the workers in threatening to fire him. PAUL MILLER: This case against Burlington Northern is the first case, the first employment discrimination case alleging genetic discrimination. This case is an important case to lay out the government's position as to what are the appropriate standards for conduct in this emerging area of human genomics and genetic testing. SUSAN DENTZER: Beyond the EEOC's case, the Burlington Northern episode highlights a number of areas in which people aren't protected against the misuse of genetic information. DR. FRANCIS COLLINS: I think this is junk science. I hate to say it. SUSAN DENTZER: Dr. Francis Collins heads human genome research at the National Institutes of Health. He also serves on a government genetic testing advisory committee. He says the test BNF ordered to determine whether workers had the rare genetic condition was based on little more than tenuous speculation about the links between genes and the workers' carpal tunnel syndrome. DR. FRANCIS COLLINS: HNPP, Or Hereditary Neuropathy with liability to Pressure Palsy-- boy, is that a mouthful?-- Is a very rare neurologic condition affecting maybe one in 20,000 people. You can get carpal tunnel syndrome, but usually with a host of other neurologic symptoms as well. SUSAN DENTZER: The railroad workers who were tested reported none of those other symptoms, including drop foot or even paralysis. What's more, the symptoms of HNPP generally begin in adolescence or young adulthood, rather than at the ages of most of the Burlington Northern workers, who were in their 40s and 50s. DR. FRANCIS COLLINS: From what we do know, it would seem very unusual indeed to have somebody with this genetic disorder presenting for the first time in sort of middle life with carpal tunnel syndrome as their only manifestation. Clearly this is a test that should never have been applied in this circumstance.
	Informed consent
	SUSAN DENTZER: Just how appropriate it is to use genetic tests in a kind of scavenger hunt for causes of disease is one issue. Another is how genetic testing labs like Athena Diagnostics distribute and process genetic tests. Athena officials declined our request for an interview, but according to Burlington Northern, the railroad's office staff simply ordered the tests by phone and, "requested they be sent to our office." Athena apparently didn't try to determine whether the tests were appropriate, or whether the Burlington Northern workers had given their consent toe test. "That's not the way things should operate," says Elliott Hillback of Genzyme. His company actually requires the testing physician to sign a form stating that the patient has consented to a genetic test. ELLIOTT HILLBACK: Well, we actually get them to say, "yes, I've... I've informed the patient of the risks and of the upside; you know, what are the good and bad, and I've gotten their informed consent to proceed." And we think that's very important that they do that. SUSAN DENTZER: The Government advisory committee, of which Collins is a member, is now considering whether there should be more federal oversight of genetic testing labs, in part to make sure that all of them are as cautious as Genzyme. In the meantime, there's growing concern about the Americans with Disabilities Act and whether it's enough to protect individuals against misuse of their genetic information by their employers. Representative Louise Slaughter, a New York Democrat, is a leading sponsor of the proposed Genetic Nondiscrimination in Health Insurance and Employment Act. She says her bill would put new protections in place. REP. LOUISE SLAUGHTER: It protects the privacy of your information, and says that on the predictive nature of those tests, that you may not be discriminated against in employment. An important thing in our bill is it doesn't just say, "we wish you wouldn't do this." There's a penalty for doing this, a civil penalty. So we think that it has a little teeth to it. SUSAN DENTZER: That proposal got a boost today at a news conference at the Capitol. The new Democratic Senate Majority Leader, Tom Daschle, who's now sponsoring the bill, said backers would now try to move it swiftly through Congress. SEN. TOM DASCHLE: We're here to say we are through waiting. It's time for our laws to catch up with our science. We can't take one step forward in science, but two steps backwards in civil rights. Discrimination based on genetic factors is just as unacceptable as discrimination based on race, gender, nation original or disability, and it must stop. SUSAN DENTZER: Francis Collins says the proposed legislation is particularly important in light of the fact that everyone has at least some genetic defects, and theoretically is just as vulnerable as the workers at Burlington Northern. DR. FRANCIS COLLINS: We can see this train coming down the track, if you'll pardon the analogy, under current circumstance; it's aimed at all of us. If we don't get out of the way, we're all going to get injured by this kind of discrimination. SUSAN DENTZER: The EEOC says it's continuing its investigation into the discrimination charges against the railroad. Meanwhile, as part of a separate settlement reached in a lawsuit brought by the railroad workers union, Burlington Northern has agreed to lobby for passage of the Daschle-Slaughter bill.