She had watched her mother, grandmother, and sister battle breast cancer, and she knew she had a 50 percent chance of carrying the same vicious gene mutation. And she had already faced the possible implications: no more children, prophylactic removal of her ovaries and breasts, lifelong medication, and extra screening.

"I’m really ready to fight," she said just before entering the small office of Kristin Baker Niendorf, a genetic counselor at Massachusetts General Hospital, to get the news.

There was just one thing she hadn’t figured on: She tested normal, no added risk.

"Initially, I was so excited," Powers said afterward. But then, within moments, "It was weird -- I just started to cry, and I felt so bad for my sister, thinking, ‘I have everything ahead of me, and she’s still fighting.’" In all her preparation, she said, "I just didn’t count on that. It was an unexpected emotion."

As more at-risk Americans take advantage of a growing array of new tests to check their genes for disease proclivities, many are finding out that testing normal can carry a surprising downside: guilt, sorrow, family problems, even identity crisis.

Just 20 years ago, there were no genetic tests for adult-onset diseases, and members of families riddled with cancer or neurological disorders had no way to find out if they were in line to be next. Today, there are more than 50 tests for various kinds of cancer alone, and the company that makes the tests for two breast cancer genes, BRCA1 and BRCA2, checks more than 10,000 women a year. As researchers link more genes to diseases, such tests are expected to multiply further.

Kathy Schneider, former president of the National Society of Genetic Counselors, predicts that in the next five years, the number of adults choosing to take genetic tests will rise into the hundreds of thousands.

The rise in genetic testing has spurred the growth of a new kind of professional, the genetic counselor, to help patients decide whether to get tested, and to cope with the results once they arrive.

One might expect that the easiest part of their job would be delivering the good news, but in fact, in their accumulating experience, it is not so simple.

Research suggests that "there are just as many people that have problems with the good news as with the bad news," said Robin Bennett, president of the National Society of Genetic Counselors.

"One of the major problems is that it doesn’t take away the disease in your family," she said. "It’s still there and still affecting your parent or sister, or niece or nephew, or your future relatives who might be born.

"One patient of mine said, ‘I feel like I’m standing outside a burning house, and my whole family’s inside and I’m outside,’" Bennett said.

Good news can even bring family alienation, said Schneider, who is also a senior genetic counselor at Dana-Farber Cancer Institute in Boston.

"One woman described it very eloquently: She was no longer in the club," she said.

The woman, who had tested negative for a gene mutation associated with von Hippel-Lindau, belonged to a family that heavily addressed cancer issues, and she no longer had the same risks or same worries about her children, Schneider said.

Another problem that can arise, said Nathalie McIntosh, codirector of the genetic counseling program at Brandeis University in Waltham, is the jarring destruction of long-held assumptions.

"If you feel you’re very much at high risk, and you organized your life around that premise, and then maybe later in life you’ve discovered that premise was wrong, that can be devastating," she said.

She said she has seen that mainly in Huntington’s disease, a neurological disorder that usually hits in middle age and progresses inexorably to mental impairment and death.

"People decided not to marry or not to have children, and then they have testing and it’s negative, and it’s, ‘What did I do with my life? I lived it the wrong way!’" she said. Many worry about not having saved for retirement, she added.

For some people, the seemingly heartening discovery that they are free of a dangerous gene can prove strangely disheartening. Counselors compared it to the disappointment experienced by some dieters who expect their successful weight loss to change everything wrong with their lives.

"For people who’ve lived under this cloud for a long time, suddenly they don’t have that cloud anymore, and they expect everything to be perfect, and of course life is not," Schneider said.

Counselors also described patients going through a disconcerting readjustment of their identity, because many had seen their high risk as a defining aspect of their selves. The authors of a study published in 2000 in the journal Research in Nursing and Health on this topic even titled it "Redefinition," referring to how participants had to redefine themselves.

They followed 10 people who came from families with a history of Huntington’s disease but had tested normal themselves. They found "paradoxical emotions" among the 10 in the six months following their tests, and a prevailing sense of the bittersweet. Some had trouble even believing that the results were correct, and others seemed to have difficulty reimagining the lives that they had always expected to end prematurely.

By the six-month mark, one of its authors, Debra L. Schutte, said, "We didn’t feel like the process was done yet." The people were still working through their new visions of their lives, she said.

A handful of other articles have also looked at the effect of normal results on genetic tests, but as a research topic, it has barely been scratched.

"There is a need for us to understand what the impact of genetic testing is, in general, and in all types of groups and diseases and populations," Schutte said.

The popularity of gene testing will probably grow further if, as expected, companies begin direct-marketing tests to consumers.

Schneider and other genetic counselors emphasized that counseling can help people who choose genetic testing to prepare for the possible emotional consequences of their results, good or bad.

"It’s important for people to recognize the emotional land mines that might be there," she said, "but also, they’re not going to be relevant for everybody," so counseling must be highly tailored to the individual. Counselors will often refer a patient for therapy or to others who have been through similar processes.

Samantha Sylvia Powers said that her genetic counselor, Niendorf, had helped her with open empathy and by telling her, "This is not uncommon to feel this way." She was "very comforting and kind of let me cry."

And though Powers, 33, may have reacted with ambivalence, her 38-year-old sister with cancer, Pamela Sylvia, did not. She has undergone a hysterectomy, double mastectomy, chemotherapy, and radiation.

Powers’s sister told her: "Don’t look at it like that at all.

"This is how it went for me," she told her, "and if someone has to have cancer, I’m just glad that it’s not you."

As printed in the VHL Family Forum 11:1, March 2003. For permission to reprint, please contact VHL Family Alliance, editor@vhl.org.