Genetic testing: look before you leap

Beyond the results

Results aside, other issues that may come up concerning genetic testing include:

• How long it takes to get the test results (if you are already pregnant this can be a real nail biter)
• The need to test other family members
• The current status of treatment for a condition
• The prospects for improved treatment
• The cost of testing
• Your age and circumstances
• What choices you will have once you have your results

And it doesn't stop there. Who else will have access to your test results and what will they do with them? The impact of genetic testing on your life can be like giving a good twist to a kaleidoscope?mostly the same pieces, but what a different image! And once you twist that kaleidoscope, there's no going back to the previous view.

Find a guide

If you are considering having a genetic test, consult with a genetic counselor first. These specially-trained, certified health professionals can guide you through the labyrinth of decisions, interpretations, and options of genetic testing. Most hospitals have certified genetic counselors on staff or you can contact the National Society of Genetic Counselors (see Resources) to find a board-certified counselor in your area.

To test or not to test

The first question a genetic counselor can help you with is whether or not to have the test. Karen Johnson, a genetic counselor at Johns Hopkins University, specializes in counseling people who have cancer in their families. Her clients often come to her because of something they have read, or because a family member was recently diagnosed, or because their doctor suggested it. Whatever their reasons for considering a genetic test, Johnson says, ?More than half of the people I counsel decide not to have the test, depending on the condition in question. Often,? she adds, ?many people have overestimated their risk, and after counseling, better understand what their risk actually is and what options they have.?

There are several scenarios in which genetic testing is considered appropriate:

• Those who think they might have a birth defect, or might have or develop a genetic disorder
• Women who are pregnant after age 34
• Couples who already have a child with a genetic disorder, mental retardation or a birth defect
• Women who have had two or more miscarriages or whose babies died in infancy
• Couples who would like testing or information about genetic disorders that occur frequently in their ethnic group
• Couples who are first cousins or other blood relatives

Deciphering the results

If you decide to go ahead with the test, a counselor can help you interpret the results and define your options. In some cases, testing positive for a genetic mutation associated with a disease can mean you are virtually certain to develop the disease. In other cases, it may mean only that you might develop the condition. And depending on the disease, there are wide variations in treatments and preventive measures available.

Negative results are no less complex. Johnson recently did a study that found many people who tested negative for an inherited form of colon cancer stopped being screened for the disease altogether. Johnson says, ?It appears that at least some of them misinterpreted the 'negative' results to mean they had no risk for colon cancer. What the test results actually meant was that they had little or no risk for the particular form of colon cancer associated with the particular genetic mutation we tested for.?

Family matters

Genetic testing doesn't affect just you. By definition, this is about families. At the minimum, you will need to provide a detailed and complete medical history of your family?and other family members may need to be tested as well. This is called a linkage test and is used when there is no direct test for a condition. Linkage tests use genetic information from other family members to better identify the genetic marker for a condition. Which, and how many, of your relatives will need to be tested depends on the condition and what its inheritance pattern is. Still other relatives may become involved as you may have to decide whether or not to tell them they are at risk for the illness. Who else will know?and what will they do?

Insurance matters

Even more people may get into the act if you have health, life, or disability insurance. One concern is whether or not your health insurance will pay for the test. Genetic testing is not inexpensive; costs range from a few hundred dollars to as much as $2000. Even more important, what will your insurer or employer do with the results of your test?

Currently, there are few laws or regulations on this issue and they vary across the country. In some states, there are no regulations to prevent an insurer from defining a positive result on a test for an inherited disease as a pre-existing condition and then denying you coverage. Other states regulate insurer access to test results and do not allow genetic tests during the application process. However, insurers can also get genetic information from your family history or your medical records.

The federal Health Insurance Portability and Accountability Act provides some protection if you are already covered by an employer-funded plan. The Equal Employment Opportunity Commission (EEOC) has issued guidelines saying that under the Americans with Disabilities Act, people with increased susceptibility to disease as predicted by a positive gene test should be protected against employer bias. But it is a guideline?not a law?and has not been tested in the courts. Contact your state insurance commission to find out if they have regulations concerning genetic testing and its results.

Points to ponder

Even now, in its infancy, genetic testing has great power for revealing information that can change the lives of individuals, families, and entire societies. Like many other new technologies, genetic testing provides ethical, social, and legal questions about how to balance an individual's right to privacy against society's need to protect itself. Other controversies surrounding genetic testing include sex selection, presymptomatic testing of children, and whether or not to warn third parties or to re-contact patients when new information on their genetic status becomes available.

There is no doubt that for some people genetic testing can be beneficial. But in this ?information age,? the effects of unintended consequences require as much consideration as do the potential benefits.