Your Very Own Personal Genome Project -- At What Cost?

By Randy Hendrickson

There’s an interesting article in Wired magazine (“How the Personal Genome Project Could Unlock the Mysteries of Life” by Thomas Goetz). The Personal Genome Project (PGP), a successor to the Human Genome Project, was launched by George Church, an expert in synthetic biology from Harvard Medical School. The first phase of the study began with 10 volunteers, but a second phase using 100,000 participants is scheduled to begin later in 2008. It is an attempt to map the genetic sequences in the DNA and determine how they are connected to genetic-based diseases such as cancer, heart disease, and diabetes. According to Church, “the PGP will bring personal genomics to fruition and our genomes will unfold before us like road maps: We will peruse our DNA like we plan a trip, scanning it for possible detours (a predisposition for disease) or historical markers (a compelling ancestry).”
Just this past spring, Church perfected the technology that could analyze millions of sequences at once. The Polonator G.007 not only accelerated the process, but it also reduced the costs involved. The goal is to sequence a human genome for as low as $1000 and make this technology a part of standard medical care.
One of the important ethical issues surrounding this project is how to obtain informed consent from the study participants. At the request of the Institutional Review Board at Harvard Medical School, the initial 10 volunteers were to be educated stakeholders in the field of personal genomics, because they would understand the ramifications of the study and would be able to give highly informed consent that the general public would not be able to give.
The next phase of the study, which will include 100,000 participants, is more complicated. To ensure that all the participants understand what is involved, an online educational system is being set-up, and participants will be tested to see how well they understand the intricacies of the study. The testing will also determine how much information is released to them.
In addition to informed consent, other important social, legal, and ethical questions still remain, namely, how privacy and fairness is ensured in the use of personal genetic information by employers, schools, insurance companies, the government, and people making clinical and reproductive decisions? If this information is misused, it is possible that a genetic underclass could be created.
Additional issues that must be considered include:
· balancing the need for personal privacy against the need for openness for scientific research;
· the potential impact of personal genomics on medicine, insurance, and employment;
· potential risks of misinterpretation and explicit misuse of personal genomic information; and
· legal and policy issues concerning ownership of this information.
According to Church, one of the goals of the PGP is to determine whether it is possible to protect personal genetic information. “Successfully protecting privacy will reassure the public, but if patients find the information is used against them, people may reject this technology.”