Source: NOVA scienceNow: "Personal DNA Testing" and NOVA scienceNow: "Personal Genome Project"
This video segment adapted from NOVA scienceNOW examines the realm of personal DNA testing. It describes the latest tests, which look for single-nucleotide polymorphisms (SNPs). These single-letter differences in DNA sequence make humans unique from one another but may also predispose people to certain diseases. The video also discusses the Personal Genome Project, an extension of the Human Genome Project aimed at determining the root causes of many common diseases. The Personal Genome Project takes into account personal genomics as well as lifestyle information, such as one's living environment, habits, and behaviors.
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.
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