Personal DNA Testing

Personalized medicine is a buzzword in the field of biotechnology. Essentially, it's the promise of using a patient's unique genetic and epigenetic characteristics to diagnose, treat, and prevent disease. These characteristics may be found in single-nucleotide polymorphisms, or SNPs. SNPs are the single-letter variations in nucleotide sequences that exist among humans that make us unique, but that can also affect how we develop diseases. Detailed family histories, patient lifestyle data, gene expression levels, as well as other biological markers are also telling factors.

Spearheaded by Harvard geneticist George Church, the Personal Genome Project, or PGP, is a nonprofit initiative whose stated goal is to make publicly available both the entire DNA sequences and comprehensive health records of 100,000 individuals. To a large degree, the Personal Genome Project picks up where the Human Genome Project left off. It's the next step to using genetic data to identify the causes of disease.

Church's work is founded on openness and automation. Project participants will volunteer their information, and the PGP will automate the sequencing process. Scientists would then be able to search through the resulting database. They could choose a physical trait or condition and a possible genetic correlation, and compare these with the genetic information and analysis obtained from project participants. For example, a certain form of heart disease might be associated with a particular gene and exposure to a particular virus.

Early results from the PGP demonstrate its potential. One of the initial participants learned that he was at heightened risk for several diseases that had not (yet) affected him, including a paralyzing neurological disease and tuberculosis. These kinds of disclosures could change someone's behavior for a lifetime; influencing the amount of attention he or she pays to diet and whether he or she attends regularly scheduled medical checkups.

Because the PGP relies on individuals providing detailed personal information that would be published and freely available to anyone, privacy issues are relevant. Thus, providing protection for the people who choose to have their DNA tested and share information like this is almost necessary for the project to succeed. In 2008, President George W. Bush signed into law the Genetic Information Nondiscrimination Act, or GINA, which was written to prohibit discrimination in health coverage by insurers, and employment (hiring or firing) by businesses on the basis of genetic information.

But ethicists are also concerned about the private ventures that have launched since 2007, promising consumers a picture of their genetic risk for disease for a fee. While the companies claim to have the technology to perform genome-wide analysis, some wonder whether businesses will put their marketing pitch ahead of the science.

To learn more about the human genome and the extensive efforts to map it, check out Journey into DNA and Human Genome Project.

To learn more about how environmental factors and lifestyle choices may influence genes, check out Epigenetics.

To learn more about the tools used to store DNA sequences, check out DNA Libraries.

• Explain what SNPs are. How are SNPs used in genetic testing, and what can they reveal?
• Describe the Personal Genome Project and explain its goals.
• Explain how the following parties could benefit from the genetic and lifestyle information shared in the Personal Genome Project: the public, pharmaceutical companies, medical practitioners. What do you think are the dangers involved in sharing personal information?
• Discuss whether you would agree to provide your DNA sample to the Personal Genome Project. Explain the reasons for your choice.