On February 18, 1971, United States President Richard Nixon proposed a National Health Strategy to Congress to ensure that good health care be readily available to all American citizens. His proposal included $6 million toward the research and treatment of sickle cell disease, an inherited blood disorder that shortens a patient’s expected life span to less than fifty years, and ignited a national interest in this previously little-known condition.

By 1972, this widespread interest had taken an unpredictable and troubling turn. Twelve states had passed laws mandating sickle cell genetic testing targeted toward African Americans. Why? African Americans do, in general, suffer from sickle cell disease by a higher proportion than many other populations. But many African-American communities felt that the laws were partially motivated by racism, and that they subjected African Americans to a new form of discrimination: one based on their genetic makeup. (Indeed, the unethical practices of the Tuskegee Syphilis Experiment had recently provided direct evidence of blatant discrimination during medical treatment.) The outrage and backlash from the African-American population, as well as many sectors of the medical community, were swift and effective. On May 16, 1972, President Nixon signed into law the National Sickle Cell Anemia Control Act, aimed at ending discriminatory testing practices by requiring that screening be voluntary.

Unfortunately, discrimination did not end with the passage of the act. Throughout the 1970s, perfectly healthy African Americans were denied educational opportunities, jobs, and insurance simply because they were carriers of sickle cell trait — meaning that they did not have the disease, but they could possibly have children with the disease. Misinformation was rampant, and the general public and some doctors did not realize there is a difference between sickle cell trait and the more dangerous sickle cell disease. In some cases, parents of children with sickle cell trait were even told that those children would die before the age of twenty, even though sickle cell patients can live much longer. This early history of sickle cell screening and false diagnosis illustrates the complexity of the social and ethical questions surrounding genetic testing. Clearly, genetic testing is a powerful tool that must be handled with an understanding of its broader social impact. And, if it is to benefit society, the validity and utility of genetic testing must be carefully monitored and reviewed, wherever it is used.

This caveat is more vital today than ever before. After the human genome was fully sequenced in 2003 by the International Human Genome Sequencing Consortium, genetic testing for traits and diseases became commonplace. Today, companies like Navigenics and 23andMe offer direct-to-consumer tests that allow anyone to obtain their personal genetic information, with the right sum of money and without a doctor’s consultation. The expansion of access to testing has made a great impact on many lives. Yet is this impact always positive? Predictive genetic tests allow us to examine our risk for developing a particular disease, and sometimes allow us to take steps to treat or prevent the disease from occurring. At the same time, coping with the results of genetic tests can sometimes be devastating. What if you learned that you are likely to develop a disabling disease for which no treatment is currently known?

And could genetic testing be misused by governments or society? The 1997 dystopian film Gattaca illustrates another possibility: that genetic testing could be misused by society to engineer human populations. In the film, the Gattaca Corp. divides genetically superior people from those who are perceived to be genetically inferior to create a rigid class system. Outlandish as it may sound, is this scenario really impossible in a world that has seen genocides in Rwanda, Serbia, and Sudan just over the past twenty years?

Some political leaders have recognized the risks inherent in genetic testing and have made efforts to prevent the misuse of genetic information. For example, in 2008 the US Congress passed the Genetic Information Nondiscrimination Act (GINA) to prohibit health insurers and employers from discriminating against Americans based on their genetic information and forbidding any type of mandatory genetic testing. While such legislation is a positive step, responsibility also falls on the public to learn about the uses and potential misuses of genetic testing.

In this Spotlight, we guide you through the scientific, ethical, and social implications of genetic testing. As you explore the following links to articles, radio programs, videos, and personal stories, consider whether you would choose to undergo genetic testing to learn about the genes you carry. How would this knowledge change the way you live?

--Ingrid Lobo, Ph.D.

Image: National Human Genome Research Institute.