Fall 2010

Each year UC Berkeley looks for a theme for our On The Same Page program that would engage incoming students with our faculty in deep and meaningful discussion about important societal issues. Rapid advances in genetic technologies are ushering in an era of personalized medicine in which each individual’s genome sequence can be determined and used to help physicians better prevent, diagnose, and treat disease. To take full advantage of these opportunities, scientists will have to figure out new ways to decipher this genetic information and society will have to consider its implications. With great strength in the biomedical sciences and computational biology as well as in the social sciences and humanities, UC Berkeley is uniquely positioned to engage some of our nation’s brightest young students in a discussion of this new frontier. This type of broad, scholarly discussion of an important societal issue is what makes Berkeley special. From a learning perspective, our goal is to deliver a program that will enrich our students’ education and help contribute to an informed California citizenry.

There is an international effort known as the 1000 Genomes Project, directed at producing the complete genome sequence of 1000 individuals representing ethnicities around the world. Our own National Institutes of Health has set a goal of reducing the cost of sequencing an individual human genome down to $1000 or less, likely to be achieved in the near future, and is funding the sequencing of approximately 10,000 human “exome” sequences (an exome consists of the 22,000 genes in our genomes that provide the coding information for proteins). The National Cancer Institute has embarked upon the mission of sequencing the genomes of thousands of different examples of the most common human cancers to uncover the changes in genomes that lead to so much human suffering. Finally, our campus is within 50 miles of the companies producing the most innovative advances in genome sequencing technology. These advances are stunning even to those of us who use these technologies every day, and they have vastly exceeded the speed with which our culture has absorbed their impact. Therefore, we reasoned that as a first and small step toward preparing our students for the future that awaits them, by evaluating only a small number of common variants of only three genes, rather than the full set of 22,000 genes, we would give a large number of Berkeley students the opportunity to “peek inside their genes” as a way of engaging them in a discussion about the science, the technology, the health, ethical and privacy issues surrounding personalized medicine. It should be a great learning experience.

We considered sending out a book or set of magazine articles to provide the “study object” in advance of our discussion. However, we decided that involving students directly and personally in an assessment of genetic characteristics of personal relevance would capture their imaginations and lead to a deeper learning experience.

Of course our students, once engaged, are voracious learners. We are creating an electronic bookshelf of materials for them to read prior to coming to Berkeley that offers a means to consider the various voices surrounding the many and varied issues related to personalized medicine.

All students whether they are minors or not will be asked to provide informed consent. They will read and sign a detailed form describing exactly what will be done with their DNA sample, how the information will be used and secured for confidentiality, how this information might benefit them, and what the alternatives are to submitting a sample. This consent form has been reviewed and approved by the UC Berkeley Committee for Protection of Human Subjects Institutional Review Board. If the student has not yet turned 18, a parent must also provide informed consent and sign the form in order for the sample to be analyzed. Any samples we receive without a signed consent form will be destroyed without analysis.

Each student will receive two identical unique bar code stickers in the packet we are mailing: they affix one to the sample and keep the other. When we receive the envelopes, an employee (not a scientist) will open the envelopes and check the informed consent forms. If the informed consent forms are signed, those bar-coded swabs will be passed on to the scientists to analyze. If the informed consent form is not properly signed, the specimen will be destroyed and safely discarded. No identifying information beyond the bar code will accompany the specimens to the lab. After the analysis is complete, the results will be posted, by barcode number, on a website, where each student can check only his or her results. Thus, the only person who will have access to a specific individual’s test results is that individual. Only these three gene variants will be tested for and all remaining DNA from the specimens provided will be incinerated immediately. If a student loses his or her bar code, there will be no way for her or anyone else to access her genetic data.

The data will be kept in a database that the students have access to, and only they will be able to decode which information is theirs. Because this is an educational program, the aggregated data will be presented to the students in Professor Rine’s lecture, emphasizing how information about groups differs from information about individuals. As noted above, the University will not have information linking specific sample results to individual students.

This project has been reviewed and approved by Berkeley’s Committee for Protection of Human Subjects Institutional Review Board.

Instructions provided to students will emphasize that participation is completely voluntary and that the identity of students who do and who do not participate will not be known. Regardless of whether or not they return a DNA sample, all students will be invited to attend a presentation by Professor Jasper Rine at the beginning of the Fall semester and the various discussion panels and other events organized around this program so learning may occur regardless of personal participation. Since we will not know which students submitted samples and which did not, there will be no opportunity for prejudice or pressure on students to participate. We fully expect that some students will choose to participate and some will not. This will provide a perfect example to them, at the earliest stages of their college experience, that smart, well-informed people, their peers, can make different and equally defensible decisions on important issues like genetic testing. We believe this experience will have value in the context of many issues that they will debate in this program and others and in their future lives.

Commercial DNA tests examine a large number of genetic markers, many of which are associated with serious diseases including cancer, diabetes, heart disease and kidney failure. There is active debate in the public about the appropriateness of providing personal genetic information about disease predisposition in a non-medical setting. In the case of the UC Berkeley program, we propose to test for three common genetic variants that are not indicators of disease per se, but rather represent variation between individuals in how they metabolize various nutrients. We will thoroughly describe the significance of these three gene variants to students in writing before they submit their specimen, in a lecture delivered by Professor Rine at the beginning of the Fall semester, and again in the form of a PDF file downloaded along with their individual test results. Finally, either Professor Rine or Dean Schlissel will meet individually with students interested in discussing their test results.

Keep in mind that technology can advance faster than cultures respond. With respect to personalized medicine, our country trains far too few genetic counselors to handle the flood of genetic information that is coming, and our medical students have curricula that are already packed with important information. We see a large gap developing between our ability to produce genetic information and the ability of the conventional medical establishment to assimilate, explain and utilize this information. In the near future, we think that individuals may have to take a more active role in the management of their own health care, informed by their genetics. We hope to provide our students an opportunity to take a small step in that direction. Moreover, we hope that this step is joined by our colleagues at other institutions as we try to learn how the shared genetic history of humanity can be interpreted for the benefit of all.

There will be no cost to students for the program. The final cost of the program is not known because we don’t know how many students will choose to participate and provide samples and we have not selected the commercial lab that will perform the testing. We believe that engaging a commercial lab or a fee-for-service core facility in an appropriate academic institution offers several advantages such as economies of scale, and low and robust estimates of error rate. However, we anticipate the cost to be similar to that of previous On The Same Page programs and regardless of the ultimate cost, there will be no cost to students.

No, they will not.

No, Berkeley neither endorses nor condemns direct-to-consumer DNA testing or any particular company operating in that marketplace. We think that genetic testing in general raises important issues that merit broad discussion. These issues will be a part of our Personalized Medicine theme.

We had initially intended to use product donated by a commercial DNA testing company as a prize in a contest related to this program. We have reconsidered this aspect of our project, and decided not to offer this as a prize so as to avoid the appearance of endorsing a particular company or being perceived as taking a position on the issue of direct-to-consumer DNA testing.

No. Professor Rine and the other organizers of this program do not have any conflicts of interest with regard to this project. The genes we are testing are different from the genes Professor Rine studies in his lab, his lab will not be performing the genetic tests, and neither he nor the other organizers will personally profit from this program in any way.

Professor Rine has been involved in multiple biotechnology companies since the early 80’s. It is common for UC faculty in multiple disciplines to be engaged in the interface between basic research on the campus and the development of applications of that research in the private sector. Indeed, the high tech sector of California’s economy has been driven in large part by innovation at multiple UC campuses and by our colleagues at private universities and national labs. The high-tech sector has provided career opportunities for many UC graduates and is an important part of our economy.

Presently, Rine is involved in a company that is trying to find the genetic basis of neural tube defects (NTDs), a common and often severe type of birth defect, which his lab is also studying. The company, called Vitapath Genetics, is located in Foster City. Rine was one of four founders. His lab gets no research support from the company, and UC holds the patents on anything he discovers, which the company would have to license. If the genetic cause of neural tube defects is found, the company will offer a genetic test that will help people avoid having NTDs in their children.

Professor Rine’s involvement with human genetics-related companies began in the the early 90s. He played a small role in cancer gene research through Myriad Genetics, and in the past served on the Affymetrix, Rosetta, and Perlegen scientific advisory boards.