The Genetic Information Non-discrimination Act of 2008 (GINA) was signed into law by former President George W. Bush on May 21, 2008, and is set to become effective Nov. 21, 2009. The law covers all employers with 15 or more employees. It prohibits employers from considering a person's genetic background in promotions, hiring, or firing. It also prohibits health insurers from using genetic information to deny coverage.

Predictive clinical genetic tests exist for over 1,200 diseases, ranging from Alzheimer's to certain types of breast cancer. The results of these tests can be used to diagnose disease, to predict the risk of developing a disease, to identify carriers of disease-related genes that may be passed on to offspring, and to guide treatment options.  But many fear that this information, while extremely useful in the clinic, could also be used for discriminatory purposes.

The implications of genetic testing are a hot topic in Washington. On Thursday, April 24, 2008, the Senate voted 95 to 0 in favor of The Genetic Information Nondiscrimination Act, a bill protecting those who undergo genetic testing. The legislation would bar health insurers (but not providers of other forms of insurance coverage) from asking for or using genetic information when deciding whether to cover any individual. Employers would also be prohibited from using genetic information for hiring or firing purposes.

Genetic testing can be accomplished by sequencing an individual's DNA, by designing molecular probes that attach to mutations in the gene that can then be visualized in the lab, or by looking for the presence or absence of the particular protein encoded by the gene in question.  Typically, the results are interpreted by the healthcare provider or a genetic counselor, and explained to the patient.  The various forms of genetic testing are the linchpin of "Personalized Medicine," which uses information about the patient's genotype or level of gene expression to develop therapies or select medications appropriate for that specific individual at that particular time.  For example, NeuroMark announced the development of a genetic test to identify people at risk of suicidal ideation (thoughts of committing suicide) when prescribed the antidepressant drug citalopram.

Of course, there are limits to the predictive ability of genetic testing.  The test results are not always easy to interpret, and false positive results and false negative results are known to occur. Many tests do not detect all mutations of a gene that can cause disease. In many cases, furthermore, interactions among several genes and between genes and environmental factors may play an important role. In spite of these drawbacks, healthcare providers can use the information from genetic testing to make informed decisions regarding diagnoses and treatment.

Direct-to-consumer genetic testing, marketed directly to individuals who are curious about their genetic status, is also becoming more widespread.  This direct marketing has been controversial, as there is the potential for misinterpreting the genetic information and little regulation.

It is hoped that the current legislative efforts will contribute to the effective use of genetic testing by both physicians and individuals.

For more information about GINA, visit the National Human Genome Research Institute website.

Portions of this text were previously published online in The GeneEd Training Report Blog http://blog.geneed.com/2008/05/.