Because her mother underwent a mastectomy at 75 and her sister died of breast cancer at 42, a Baltimore woman decided to err on the safe side: She had both her breasts removed before the disease -- if she had it -- could grow. The gamble paid off the day she left the hospital when her doctor handed her a pathology report showing a pre-cancerous growth.
Now a test for gene alterations that cause breast cancer is available for the first time, and this woman's daughters can make such crucial decisions with more certainty than she did seven years ago. But the mother fears a Catch 22. If a genetic test shows her daughters inherited a faulty gene, a health insurer could call it a pre-existing condition and refuse to pay for subsequent treatment.
Genetic tests are in their infancy. But in little more than a year, the discovery of a gene associated with breast cancer, BRCA-1, has hastened a revolution in medicine and ignited a frenzy among scientists worried about the large questions of who should be tested and under which conditions.
The revolution is about the ability to test people for things that doctors can't cure -- yet. Dozens of genes are being identified daily, and tests for them are soon to come. The short list includes heart disease, cancers, diabetes, obesity, osteoporosis, allergies, mental disorders, epilepsy and Alzheimer's.
The frenzy is that one of the first such tests, one that aims to tell whether a person is predisposed for breast cancer, is entering the marketplace so rapidly that more people could be hurt than helped. Right now, the information gleaned from it is sketchy, and it could look downright primitive in a few years as research improves.
All women carry a gene that suppresses tumors in the breast, and the goal of the test is to see if it is working correctly. Women in families with a history of cancer have a 50 percent chance of inheriting the faulty gene that caused it. But the faulty gene doesn't always trigger cancer.
"We don't know what BRCA-1 does, and we know other genes impact BRCA-1 functions," says Stanford University immunologist and medical geneticist Paul Billings, who has tracked discrimination by insurance companies against people with an alteration of the gene.
There are hundreds of possible cancer-causing alterations in the BRCA-1 gene, and researchers are trying to chart them. Meanwhile, a test for a second gene, BRCA-2, linked to 40 percent of inherited breast cancers, is in development.
Other genes, too, may be associated with breast cancer, and "since we don't have tests for the others, the importance given to mutations in BRCA-1 and BRCA-2 is extraordinary," Dr. Billings says.
Despite this uncertainty, insurers already are asking women in families with a history of breast cancer to take the genetic test and have dropped women who refused, Dr. Billings says. And before most doctors have a clue what these tests can or cannot do, the companies that run the tests for academic centers are beginning to sell them to the public.
About 1,000 women have taken the test in the 18 months it has been available at selected academic centers, estimates Judy E. Garber, head of cancer prevention services at the Dana-Farber Cancer Institute in Boston. In Maryland, seven women and their families have opted for the genetic test through a research study at Johns Hopkins, and four are still awaiting the results. Like the Baltimore woman and her daughters, they all request anonymity out of concern for privacy and fearing exposure to their employers and insurance companies.
Two companies, one in Virginia and one in Maryland, have begun selling the test to the public in the past few months. The Maryland company, OncorMed Inc. of Gaithersburg, says it offers the test to doctors under the same conditions for education and counseling found in university settings.
But there is concern that as the test's availability grows, women may not get the education needed to make an informed decision. In addition, the tracking done in research settings to determine how effective the test or the various treatments are might not be accomplished.
The test is expensive -- the cost per family member can be as high as $2,000. Nor is there a sure way to treat women who are predisposed to cancer. Even the most aggressive treatment, a bilateral mastectomy, does not always prevent the disease from developing in nearby tissues.
Most women at high risk for cancer who were enthusiastic about the test when they came to Johns Hopkins to be evaluated decided against it after hearing about its limitations, says Barbara Bernhardt, a genetic counselor at Hopkins.
This trend has prompted noted geneticists like Frances S. Collins, who heads the nation's gene mapping effort at the National Center for Human Genome Research in Rockville, to say it should be offered only in settings that provide education and counseling before and after the test.