Genetic Testing: What You Need to Know

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What are the drawbacks of genetic testing?

Genetic tests have several potential problems you should think about before being tested:

Limited answers

Genetic tests do not give precise answers about inherited diseases, especially about breast and colon cancer. A positive test result does not always mean you will get the disease. The test can tell what might happen, but it cannot tell what will happen. On the other hand, a negative result does not mean you have no risk of getting the disease.

As with many medical tests, genetic tests may be flawed, or test results may be read wrong. Though many steps are taken to prevent this, genetic testing is not tightly regulated, and different labs may have different ways of looking for a certain mutation.

Sometimes a genetic test may be done even though the result has little chance of helping the person. When this happens, the test may create anxiety when the original intent was to relieve it. This is why counseling before you get the test is so important – you’ll want to know exactly how the result could help you, and if it would help enough to make up for the stress it can cause.

Psychological or emotional impact

Many people are anxious even before they get their test results. They may think about how the result might affect them and their families, and how they can talk about and manage the information.

Learning that you have or might develop a serious disease can be frightening. The person being tested may find it even more upsetting if family members have already died of the disease in question.

A positive genetic test result can also affect other family members. More family members may need to be tested. Sometimes family secrets are revealed as a result – paternity, adoptions, or other difficult issues may come up.

Having a gene or passing a gene on to children can bring out feelings of guilt or anger. The test results might also affect future relationships with a spouse or other family members, which can be stressful, too.

In some cases, more medical tests or procedures may have to be done as a result of genetic testing. For example, if a gene mutation for colorectal cancer is found, more tests like colonoscopy may be recommended. These extra tests can also be sources of stress and anxiety.

Privacy issues

Most people who ask about the privacy of genetic information are concerned about how the information may be used in ways that can harm them. Most Americans are afraid that employers and insurance companies might get and use their genetic information. They fear an employer could find out and discriminate by not hiring or promoting them, but the Genetic Information Nondiscrimination Act (GINA) law forbids most employers from doing this (see below). Some people are even concerned that adoption efforts could be stopped based on this type of sensitive information.

On the other side, some companies and researchers are concerned about there being too many restrictions on this information, which could be useful to scientists.

The privacy issue becomes even more complicated when many family members may be affected by a single positive genetic test result.

For these reasons, it’s important to think about who might learn about your results and with whom you will want to share your results before you decide on testing.

National law prohibits discrimination by employers and health insurers

The Genetic Information Nondiscrimination Act (GINA) bars discrimination based on genetic information by employers with more than 15 employees and health insurers. GINA defines genetic information as:

  • A person’s own genetic test results
  • The genetic test results of family members
  • One or more family members known to have a genetic disease or disorder

Employers: GINA bars employers from discriminating on the basis of genetic information in hiring, termination (firing or layoffs), pay, or other personnel actions such as promotions, classifications, or assignments. The law applies no matter how they got the information.

Employers are not allowed to require genetic testing and can’t collect genetic information except for very limited exceptions. For instance, it may be allowed when information is needed to meet the requirements of family and medical leave laws or to watch for harmful effects from hazardous workplace exposures.

Employers must keep genetic information confidential. They can’t release or share genetic information except when:

  • The employee asks them to
  • Fulfilling a request from a health researcher
  • Complying with medical leave law
  • Disclosing or reporting to a public health agency

Health insurers: GINA bars health insurers (including group health plans, individual plans, and Medicare supplemental plans) from turning down people or charging higher premiums for health insurance based on genetic information or the use of genetic services. This includes genetic counseling and testing. The law also bars these insurers from asking for or requiring genetic tests. GINA applies to all health insurance plans (including federally regulated ERISA plans, state-regulated plans, and private individual plans).

A few states have stronger laws than GINA. GINA does not replace state laws against genetic discrimination that are broader in scope. Rather, GINA establishes a national “floor” of protection while allowing states to impose stronger protection for patients.

GINA’s protections do not extend to life insurance, disability insurance and long-term care insurance. It also doesn’t require health insurance to cover genetic testing. GINA does not apply to very small employers (with fewer than 15 employees), nor does it apply to military health plans, the Veterans Administration, or the Indian Health Service. GINA does not apply to federal employees who get health coverage through the Federal Employees Health Benefits Plans.

Genetic testing ads: promises that don’t always deliver

The social, legal, and ethical challenges posed by genetic information are further complicated by the way genetic tests are sometimes marketed. Manufacturers now advertise and promote genetic testing to doctors and to the public. Sometimes they make the test sound much more helpful and decisive than it has actually proven to be. This can be harmful because decisions about testing may be made based on incomplete information, or even on the basis of misleading or wrong information. A lot of tests don’t give the answers they seem to promise. Reputable genetics counselors (see the section below, “Genetic counseling”) can help you know what to expect from your test results.

Last Medical Review: 10/18/2013
Last Revised: 03/11/2015