THE VIRGINIAN-PILOT
Copyright (c) 1997, Landmark Communications, Inc.
DATE: Thursday, February 20, 1997 TAG: 9702200068
SECTION: LOCAL PAGE: B1 EDITION: FINAL
SOURCE: BY MARIE JOYCE, STAFF WRITER
DATELINE: NORFOLK LENGTH: 100 lines
Is knowledge always power?
Barbara J. Fuller once thought so. When the lawyer first started working on issues related to genetic testing, she couldn't imagine anyone not wanting to know if he or she carried a gene connected to a deadly disease.
Then Fuller, who works at the National Institutes of Health, met people faced with the choice of having a test to decide whether they had inherited a family disease. She realized the issue was very complicated.
Genetic testing has opened new doors in medicine, offering patients insight that they never had before and promising exciting advances in the treatment of deadly diseases.
But new tests raise new dilemmas for patients. They might become targets of discrimination. They must make hard choices about telling their families and testing their children. They may acquire knowledge they wish they didn't have.
Fuller and other experts explored the issues Wednesday at an Eastern Virginia Medical School conference on genetics and cancer. The half-day conference for doctors and students was sponsored in part by the American Cancer Society and Glaxo Wellcome, a pharmaceutical company.
Speakers said genetic assessment can mean simply taking a detailed family medical history. By looking at family cases of, say, colon cancer, genetics experts can give a patient a rough idea of his own risk.
However, recent advances now allow scientists to look at a person's genes - a sort of blueprint for the body - and find specific mutations that have been associated with some diseases. One of the most famous genes is BRCA1. If it has changed in certain ways, it can greatly increase a woman's risk of breast or ovarian cancer.
The discoveries make doctors look forward to a day when medicine can specifically target the problems caused by specific cancer genes. The treatments would be much more effective than chemotherapy and radiation.
Those advances are 10 to 20 years away, said Cameron G. Binnie, director of molecular biology at the North Carolina-based Laboratory Corporation of America.
Even so, patients with a strong family history of cancer for which a test is available may have good reasons to pursue the test, speakers said.
Those who learn they are free of the bad gene enjoy relief - for themselves and their children. They feel free to take more risks in their careers. They save money by avoiding unnecessary tests to detect the cancer.
Even those who get bad news can benefit. Through rigorous screening, they may be more likely to find the cancer early, when it's most easily treated. They can plan realistically for the future. Some say they feel more control over their lives once they know.
But this is uncharted territory, and not necessarily a place everyone should go.
Some questions arise from limitations of the science. Many cancers can't be prevented. Even methods that seem to help don't guarantee an escape.
``Are you going to give them the knowledge and not give them any kind of control over it?'' said Dr. John J. Mulvihill. He is professor of pediatrics and molecular genetics and biochemistry at the University of Pittsburgh's medical school.
Americans often have trouble understanding numbers and risk - some find it hard to grasp what their chances are, speakers said.
Complicating matters, cancer is a disease influenced not only by inheritance, but also by environment, said Mulvihill.
Having a bad gene doesn't mean someone will get cancer. And a ``good'' gene doesn't mean she's in the clear. Only about 5-10 percent of breast cancer cases are inherited, Binnie said.
Some women with the BRCA1 mutation, for example, don't get breast cancer, and many women who don't have the mutation will still get the disease.
There may be dozens of other genes involved besides BRCA1, said Mulvihill.
If a patient is told she doesn't have the breast cancer gene, she may become lax about mammograms, breast self-exams and other actions that could save her life.
Those who get bad news can suffer depression and changed feelings about their bodies. And their actions affect their families.
If a person learns he has a mutated gene, he may have a moral obligation to tell other family members, speakers said. This is hard for dysfunctional families. The patient may want to protect his privacy. Or he may end up burdening family members with knowledge they don't want.
People who receive the diagnosis also must decide whether to test their young children, or even test fetuses in the womb with the possibility of having an abortion.
Discrimination is a real risk, said Fuller. People have lost health or life insurance, or their jobs, because of their genes.
The federal government and some states, including Virginia, have passed laws to protect people's access to health insurance.
But there are many loopholes, she said. For example, companies that are self-insured - about a third of employers - are exempt from most state laws.
All the potential problems with genetic testing discourage some patients.
In 1995, 58 women came to the University of Pittsburgh to find out whether they carried BRAC1, said Mulvihill.
They got an assessment of their odds based on family history. After evaluating the benefits, risks, technical problems and cost - up to $2,400 - only eight decided to go through with the tests, he said. ILLUSTRATION: Color photo
BILL TIERNAN/The Virginian-Pilot
Barbara J. Fuller, a lawyer, speaks to doctors and medical students
on ``Ethical, Legal and Social Issues of Genetic Testing'' Wednesday
at Eastern Virginia Medical School.