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Personal Genome Project

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Saturday, October 18, 2008

HOW PGP WORKS

Step 1. Informed consent. A prospective participant familiarizes himself with the program, including the risks. The prospect must pass a genetics exam and submit an online consent form.

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Step 2. Trait collection. The volunteer fills out an online questionnaire listing known baseline traits: medical history, race, height, medications, etc. He may also list other traits or conditions. One participant noted that she "saw a shrink for . . . most of 2000" and has had "intermittent upper back pain since 40s" from stress, carrying luggage and too much typing.

Step 3. The volunteer submits a blood or saliva sample or skin cells from an arm or leg.

Step 4. Enrollment is free, but a donation is requested.

Step 5. Specimens are sequenced.

Step 6. The volunteer can opt to have his genome and trait profile made available on the PGP Web site.

Step 7. Every three months, the participant receives an e-mail asking whether any adverse event has occurred and may update his profile.

Step 8. Anyone can have access to the data online. Researchers will try to develop associations between genes and traits.

GENES AND DISEASE RISK

Everyone has two copies of each gene, except for the genes on the X and Y sex chromosomes. It takes mutations to both copies to trigger some diseases; for others, a change in one copy is enough. The risk of developing a disease is influenced to varying degrees by a person's environment.

Examples of some gene defects and the associated risk of disease:

DEFECTIVE GENE/DISEASE/RISK

ยท Cystic fibrosis transmembrane conductance regulator/cystic fibrosis/100 percent


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