Personal Genome Project Opens Doors To Individualized Health Care And More

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Imagine walking into a restaurant and having a meal prepared to your specifications – even considering your allergies – before you glance at a menu.

To some, this might seem like heaven; to others, a disturbing "Brave New World" fantasy. To geneticist George Church, the founder of the Personal Genome Project, it is well within the realm of possibility.

Church lectured at Northwestern University this month about the Personal Genome Project, which could one day customize restaurant service and, more importantly, predict the risks of developing diseases ranging from motion sickness to dementia. Harvard geneticist George Church founded the Personal Genome Project as a genetic bank to determine how genes, traits and environment can predict and prevent illness.Harvard geneticist George Church founded the Personal Genome Project as a genetic bank to determine how genes, traits and environment can predict and prevent illness.

Church launched the project in 2005 in an attempt to build on the Human Genome Project. The professor of genetics at Harvard Medical School was interested in learning how our genes, environment and personal traits fit together. He saw the opportunity from quickly developing computer sequencing technology and was inspired by Wikipedia and social networking software to make the information open access.

"The more public it is, the more you really expect to gain from it," Church said. "Otherwise, it’s hard to discover things."

The Personal Genome Project collects and decodes personal genetic information with the goal of identifying and treating diseases to which individuals might be susceptible. Church hopes that by making participants’ stem cell lines available (through hair samples they donate), researchers will be able to reprogram those cells for resistance to viruses, cancers or even aging. If the person were to succumb to a particular disease or needed a transplant, they could potentially rely on their own cells to create organs.

"This is one of the most obvious kinds of personalized medicine you can think of," Church said. "It’s very tough to be an [organ] recipient from someone who isn’t your identical twin or yourself. I think that’s going to be a very exciting aspect – developing stem cells."

Church also foresees personalization of everything from medication to restaurant service to education as a result of genome sequencing.

The project began with 10 volunteers, called the PGP-10, all of whom are professionally involved in genetic development. They each provided saliva and hair samples, which were sequenced and posted, along with their medical records, on the project’s Web site. With only 10 volunteers, the possibility for legitimate "discovery" was limited. But Church hopes that, as the project grows, the scientific findings will broaden to allow insights into everything from disease risks to behavioral tendencies such as being clumsy.

He is personally interested in understanding narcolepsy, motion sickness and high cholesterol, all conditions he has. He said he hopes that, in the future, participants will suggest what they would like to see studied.

"All of these things you think of as not being genetic," Church said. "The key is thinking integratively. To some extent, we don’t even know all the ways people are going to look at the data. It’s likely that if you have a highly integrated, highly comprehensive set, it’s going to be more useful both for rigorous predetermined things and also serendipity."

The original PGP-10 were allowed to "opt out" of learning whether they had particular genes, such as the apolipoprotein E gene, which indicates a higher risk of developing Alzheimer’s disease. But Church hopes to have a much more curious future group of people who aren’t afraid to "learn too much" about their genetic code. In fact, he said that most of the volunteers he’s talked to are enthusiastic about knowing every little A, C, G and T in their DNA and what future it might hold.

"They’re pretty adamant they want to know every single base pair," Church said. "They may not know how to analyze every single one, but they’re not afraid of any of them."

He said there are already 1,449 genes that link to potential illnesses and allow for medical intervention, and each one holds the promise of predicting and treating conditions such as Tay - Sachs disease, Cystic Fibrosis and types of breast cancer.

The secret of prediction is alleles, the single members of a pair or series of genes that occupy a precise location on a chromosome. These alleles are largely what determine particular traits or disease risks.

Dr. Peter Kopp, the director of Northwestern’s Center for Genetic Medicine, said it is very important to educate the public about the difference between high-penetrance alleles, which almost certainly lead to a particular disease, and low-penetrance ones, which might lead to a disease in conjunction with other alleles or a certain lifestyle. The center sponsored Church’s lecture.

Kopp said that the results of the Personal Genome Project might lead to a departure from generic advice and allow people to make "more tailored decisions" about their health.

"It is important to understand the strong interaction between the genetic basis and the environment," Kopp said. "It may truly have an impact on a better understanding of what we should do or avoid. We have to make our own decisions based on that."

The sequencing of the original PGP-10 is, for all practical purposes, complete. Now the goal is to sequence the genomes of 100,000 individuals from diverse geographic, ethnic and socioeconomic backgrounds. Church also said that the project is particularly interested in recruiting older people who are more likely to have had "medical events" in their lives.

At present, 13,000 volunteers are in the process of joining the Personal Genome Project, which entails taking an online test that makes sure they fully understand the consent form. Participants can take the test multiple times, but they must get 100 percent in order to be part of the project.

A major component of the consent is agreeing to share personal data with the world, which is at the heart of the Personal Genome Project. Church says that, in this age of the internet, a spirit of volunteerism – even sharing information about genomes – is essential.

He believes that promising confidentiality in the internet age is meaningless because there are so many different ways for the information to be distributed. Instead, the Personal Genome Project is upfront that personal information, including gene sequences and cell lines, will be on a database, identified by subject number.

"If the problem is you can’t promise privacy, maybe the solution is to recruit people who are okay with having that be in the public domain," Church said.

Now that the PGP-10’s genomes have been sequenced and placed online, that information is available with the click of a mouse. We can know in an instant that Subject #3 had her tonsils removed at the age of six, has intermittent upper-back pain and takes an estrogen replacement drug.

This issue of privacy is a major ethical concern of the project. But there are other ethical considerations, such as women opting for selective abortions, disreputable companies capitalizing on people’s fear, or misinformed patients acting rashly.

"There’s no shortage of ethical things downstream," Church said. "Our hope is that to somewhat demystify, destigmatize, get frank and transparent discussions going might be a partial remedy to some of these ethical things that deal with misinformation."

Kopp said that he is concerned about the issue of "consumer genomics," in which independent companies provide genetic information, including the risks of disease, to the public without offering genetic counseling.

"The problem with this type of information is if it hits the unprepared mind," he said. "It can really lead to false fears that may not be warranted."

Despite the ethical concerns, Laurie Zoloth, director of the Center for Bioethics, Science and Society at Northwestern, said that she backs the Personal Genome Project.

"I am entirely supportive and plan to sign up to participate in his project as a subject," she said by email.

Church hopes that by presenting accurate information, the project will be able to find more recruits and delve into some significant diseases. And with the process of sequencing genomes getting faster, the technology more sophisticated, and more volunteers getting involved, those exciting discoveries, future concerns and sci-fi scenarios might be right around the corner.

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