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'Devastating' Experiences, Complex Issues

Elsa Reich has been a genetic counselor since the mid-1970s, the very earliest days of the profession. At New York University Medical Center in Manhattan, her clients include referrals from the MDA clinic. She's also an associate professor of pediatrics and teaches a course called Delivery of Genetic Services at Sarah Lawrence College in nearby Bronxville.

She's passionate about maintaining the quality of advice given to families about complex and often highly charged genetic issues.

Reich fears that all the attention now being paid to genetic testing and the role of genes in our health has led people - including many physicians who aren't geneticists - to think that testing reveals simply "you have it or you don't have it."

The average health professional, she says, isn't often aware of the limitations of genetic testing, the uncertainties a test can lead to, the differences among laboratories, and the significance (or lack of it) of some test results. Nor, says Reich, do most have "the time or the skills for this; this is the primary activity of genetic counselors."

Some physicians are ready to admit they have no training in genetic counseling and are at a loss when asked to counsel patients. Writing in the Feb. 9, 1998, issue of the New Yorker, physician Jerome Groopman describes his experience trying to counsel a young woman with a genetic mutation that increased her chances of developing breast or ovarian cancer.

"I had not been trained in medical school or during my clinical residency to handle the issues that confronted me," Groopman confesses. "I had not been instructed by a senior attending physician in how to speak and listen, how to decide which questions are appropriate and which are taboo, or how to make one's case for the best option."

(Most genetic counselors, at least in the United States, would say no one should even try to "make a case for the best option," but should leave that to the client after presenting all the options.)

"People don't stop to think how devastating these experiences are," Reich says. Good counselors, she says, "make a real effort to be sensitive to a lot of emotional, psychological and medical issues that have a tremendous impact on the individual and family." For example, the National Society of Genetic Counselors recommends "extreme caution" regarding the testing of children or fetuses carried to term when the condition in question is an adult-onset disorder for which no treatment is available. Such testing, the group states, may be better left up to the child when he reaches maturity.

As important as counseling skills are in genetic counseling, of equal importance is a thorough knowledge of DNA tests and their limitations.

"When you use a lab, you want to know who the director is, what their training is, if they're a board-certified molecular geneticist," Reich explains. "You want to know how many tests of this kind they've done, and what the sensitivity of those tests is." By sensitivity, Reich explains, she means what they can and can't detect. As an example, Duchenne muscular dystrophy is caused by any of a large number of mutations in the gene for dystrophin, a muscle protein.

"The likelihood of detecting either a deletion or duplication in the dystrophin gene is somewhere around 65 percent to 70 percent," Reich says.

"So, if the test is negative, it does not mean that the individual does not have that condition." It may simply mean that the person's mutation is in the 30 percent to 35 percent of disease-causing dystrophin mutations that can't be detected by the usual kinds of DNA tests now used.

Another issue is specificity.

Reich is now trying to advise a client who may have Charcot-Marie-Tooth disease, a genetic disorder of peripheral nerves. The woman has a mutation that may or may not be specific for CMT. For now, Reich is calling it a sequence variation.

Reich defines the specificity of a test as "the likelihood that a given finding is actually significant, or meaningful." She cites as an example of ambiguous significance the genetic variations that seem to be associated with Alzheimer's disease but don't directly cause the disorder, since they appear in people with and without Alzheimer's.

"One of the major issues for families is appreciating the possibility for error or uncertainty. I think that's a big deal," Reich says.

Genetic counselors, she says, "really have more feelers than the general community of where to go to get more information. It's not always in the [medical] literature."

Privacy A Priority

When it comes to genetic privacy, Reich says, "There are several areas to think about." Today medical records, electronic and paper, are readily accessible to many people in a hospital, and third-party payers demand and frequently receive whatever information they desire. In this enviroment genetic counselors, schooled in the principles of counseling and confidentiality, can play an important role as client advocates.

The National Society of Genetic Counselors tells its members that they should "support individual confidentiality regarding results of genetic testing. It is the right and responsibility of the individual to determine who shall have access to medical information, particularly results of testing for genetic conditions."

One area that's important, Reich says, is "privacy within a family. For example, someone might come to see me and ask, 'Did my brother come to see you?' I'd say, 'I don't know.' When a client has been tested for something and found positive, she says, "you don't have the right to divulge that information to a relative."

The next area is insurance privacy. Sometimes, Reich says, it really doesn't matter whether the insurance company knows. In Duchenne dystrophy, for example, the insurer will likely learn of the disorder anyway.

But for genetic "risk factors" and genetic information of uncertain significance, it can matter very much whether an insurer knows. Reich says she doesn't release such information without the written permission of the client or parent.

Then there's the matter of privacy within a medical institution. "A lot of people have access to medical records," Reich says. "You really can't guard against people finding out things you don't want them to know."

At this time, there are no federal regulations that offer certain, comprehensive medical privacy. State laws vary. (See "Clinton Bans," below.)

An Individual Decision

Pam Rhatigan says she doesn't know exactly what she'd have done 19 years ago if she'd had all the information about her disorder that's available today. She does believe that all decisions surrounding genetic testing and childbearing are highly individual and depend on more than the sum of the information presented.

She says she hopes genetic counseling won't be misused or misperceived as a coercion technique to "wipe out neuromuscular disease."

She notes, "A lot of very wonderful people wouldn't have lived" if that had been the goal. (The professional consensus, at least in the United States and Britain, is that genetic counseling should be strictly nondirective, making no value-laden judgments and no persuasive statements.)

"I think you can provide as much data as can be provided, and decisions are more easily made the more information there is; but it all comes down to an individual decision," Rhatigan says. "I don't think there's any right or wrong decision, no matter what the situation is."

Among the factors in her own decision were her recently completed doctorate in clinical psychology, her husband's profession as an engineer, a stable home and income, and strong religious faith. While she's very glad that Paul turned out not to have SMA, she says, "We were prepared for anything. Probably a lot of our decision was also based on faith. If it wasn't meant to be, I just wouldn't be able to get pregnant. What was supposed to be would be, and whoever this child turned out to be would be OK."

If her baby had been born with SMA, she says, "What better family to be born into? We have a wheelchair-accessible home with a lift." But, she acknowledges, "Two other people might not have made that decision had that been a possibility.  

Clinton Bans Genetic Discrimination in Some Workplaces

On Feb. 8, President Clinton signed an executive order prohibiting federal departments and agencies in the executive branch from using genetic information in any hiring or promotion action.

In the last 10 years, hundreds of genes and flaws (mutations) in these genes have been linked to serious diseases or to the propensity to develop them. Although gene identifications have enormously increased the medical profession's understanding of these disorders and held out the promise of treatments for them, they've also raised fears of a new type of discrimination - one aimed at people whose test results indicate they have genetic flaws that may lead to disease.

At the same time that Clinton signed the order affecting federal agencies, he also endorsed the Genetic Nondiscrimination in Health Insurance and Employment Act of 1999, which is pending in both houses of Congress. This bill would extend these employment protections to the private secor and protect people whose genetic test results might otherwise interfere with their purchase of health insurance.