What are the risks and limitations of genetic testing?
The physical risks associated with most genetic tests are very small, particularly for those tests that require only a blood sample or buccal smear (a procedure that samples cells from the inside surface of the cheek). The procedures used for prenatal testing carry a small but real risk of losing the pregnancy (miscarriage) because they require a sample of amniotic fluid or tissue from around the fetus.
Many of the risks associated with genetic testing involve the emotional, social, or financial consequences of the test results. People may feel angry, depressed, anxious, or guilty about their results. In some cases, genetic testing creates tension within a family because the results can reveal information about other family members in addition to the person who is tested. The possibility of genetic discrimination in employment or insurance is also a concern. (Refer to What is genetic discrimination? (http://ghr.nlm.nih.gov/handbook/testing/discrimination) for additional information.)
Genetic testing can provide only limited information about an inherited condition. The test often can't determine if a person will show symptoms of a disorder, how severe the symptoms will be, or whether the disorder will progress over time. Another major limitation is the lack of treatment strategies for many genetic disorders once they are diagnosed.
A genetics professional can explain in detail the benefits, risks, and limitations of a particular test. It is important that any person who is considering genetic testing understand and weigh these factors before making a decision.
For more information about the risks and limitations of genetic testing:
The National Cancer Institute provides a brief discussion of the limitations of genetic testing:
• Limitations of Gene Testing (http://www.cancer.gov/cancertopics/ understandingcancer/genetesting/page30)
• Major Limitations of Gene Testing (http://www.cancer.gov/cancertopics/ understandingcancer/genetesting/page31)
GeneTests outlines points to consider for each type of genetic testing (http://www.ncbi.nlm.nih.gov/projects/GeneTests/static/concepts/primer/ primerusesof.shtml).
What is genetic discrimination?
Genetic discrimination occurs when people are treated differently by their employer or insurance company because they have a gene mutation that causes or increases the risk of an inherited disorder. People who undergo genetic testing may be at risk for genetic discrimination.
The results of a genetic test are normally included in a person's medical records. When a person applies for life, disability, or health insurance, the insurance company may ask to look at these records before making a decision about coverage. An employer may also have the right to look at an employee's medical records. As a result, genetic test results could affect a person's insurance coverage or employment. People making decisions about genetic testing should be aware that when test results are placed in their medical records, the results might not be kept private.
Fear of discrimination is a common concern among people considering genetic testing. Several laws at the federal and state levels help protect people against genetic discrimination; however, genetic testing is a fast-growing field and these laws don't cover every situation.
For more information about privacy and genetic discrimination:
The National Human Genome Research Institute provides a detailed discussion of genetic discrimination and current laws that address this issue:
• Genetic Discrimination in Health Insurance or Employment (http://www.genome.gov/11510227)
• Privacy and Discrimination in Genetics (http://www.genome.gov/10002077)
• NHGRI Policy and Legislation Database (http://www.genome.gov/ PolicyEthics/LegDatabase/pubsearch.cfm)
The Genetic Alliance offers links to resources and policy statements on genetic discrimination (http://www.geneticalliance.org/issues.discrimination).
Additional information about policy and legislation related to genetic privacy (http://www.ornl.gov/sci/techresources/Human_Genome/elsi/legislat.shtml) is available from the U.S. Department of Energy Office of Science.
The Australian Research Council's Genetic Discrimination Project (http://www.gdproject.org/) is studying the impact of genetic discrimination on consumers, third parties (such as insurers), and the legal system in Australia.