Tempest in a spit cup

BERKELEY — A controversial UC Berkeley program to analyze three genes in the DNA of incoming students culminates next week with a keynote address and the first of a series of panel discussions and lectures that will run through October.

Organizers and critics alike hope these events will spark a campus-wide discussion of the pros and cons of genetic testing and the promise or peril of personalized medicine.

On the Same Page poster detail.

A Sept. 13 lecture, “Looking for the Good News in Your Genome,” by campus geneticist Jasper Rine, will set the stage with a discussion of the promise new DNA technologies hold for improving human health.

Highlights of additional events include:
• A Sept. 14 faculty panel discussion on “Genes & Behavior”
• A Sept. 16 panel on “Direct-to-Consumer DNA Testing” that includes representatives from the genetic testing industry and genetic privacy groups
• Panel discussions on “Fictionalizing Science and the Genome” and the “Uses and Abuses of Genomic Knowledge” on Sept. 20 and 21, respectively
• A final keynote address on Sept. 29, “Personal Genomics and Public Angst,” by Alta Charo, a special advisor to the commissioner of the Food and Drug Administration and a professor of law and bioethics at the University of Wisconsin.

A nationwide discussion erupted earlier this summer over “Bring Your Genes to Cal,” a program for incoming freshmen and transfer students in the College of Letters & Science (L&S). Several national genetic privacy groups and some UC Berkeley faculty members urged cancellation of the DNA testing in order to protect student privacy, while a bill was introduced — and subsequently killed — in the California Legislature to request that UC not ask students for DNA samples.

Program organizers ended up making several changes, such as eliminating four student prizes of a free genome analysis donated by 23andMe, a personal genomics and biotechnology company, to avoid the appearance that UC Berkeley was endorsing the company. At the insistence of the California Department of Public Health, it also ditched the most controversial aspect of the program: revealing individual test results for the three gene variants to students who mailed back saliva samples.

“This is still a robust learning experience that will continue regardless of the health department ruling,” said Mark Schlissel, L&S dean of biological sciences. “Already, 5,000 students have debated these issues with their families and in their own minds, so even those students who did not return spit samples have already participated in the program.”

The program is this year’s On the Same Page project, which typically has provided incoming UC Berkeley students with a book to read over the summer in preparation for a campuswide discussion in the fall. This year, in an attempt to grab the interest of students — non-science majors, in particular — the deans decided to offer students the opportunity to learn something about their genetic makeup, limited though it was to what Rine called “innocuous” genetic variants.

Rine will, as planned, aggregate the results from the 724 DNA samples analyzed and report them in his Sept. 13 address. The unused portions of DNA samples were destroyed early this week.

Inauspicious launch

The dean’s office of L&S announced what it considered a unique, only-at-UC Berkeley program on May 11, the same day that Walgreens ignited a firestorm over its own plan to sell direct-to-consumer DNA test kits that screen for disease genes, such as those associated with prostate cancer, cystic fibrosis and diabetes. The Food and Drug Administration immediately objected, saying the kits chosen by Walgreens had not been validated as safe, effective or accurate for people planning to make medical decisions based on test results.

Saliva cup

Walgreens immediately canceled its plans, but California Congressman Henry Waxman and the House Energy and Commerce Committee initiated an investigation of several companies offering genetic screening online, including Mountain View-based 23andMe.

UC Berkeley’s DNA testing is much different, Rine emphasized. While genetic testing firms typically analyze thousands of gene variants, many related to disease, the campus’s plan was to look at only three common genetic variants affecting how people metabolize milk, alcohol and the vitamin folic acid. UC Berkeley’s Committee for Protection of Human Subjects reviewed and approved the protocol, which included a consent form to be signed by the student or, in the case of those under 18, a parent. Participation was voluntary and anonymous, and the DNA samples were to be destroyed after testing.

Carla Hesse, dean of social sciences in L&S and a professor of history, pointed out that the deans made sure that there were alternate ways for students to participate in the program, including creating essays, poems or artwork, with a contest thrown in for the best submissions.

The saliva kits, which were returned over the summer, were barcoded so that only the student would have access to his or her results. Students would see their individual results only after Rine’s Sept. 13 lecture, and all would be encouraged to attend subsequent panel discussions on the topic of personalized medicine and how emerging genetic technologies are transforming the ability to predict, diagnose and treat human disease.

Teach before testing

Nevertheless, genetic testing was a hot topic, and UC Berkeley’s program quickly drew attention of its own. On May 19, the Cambridge-based Council for Responsible Genetics sent Chancellor Robert Birgeneau and others a letter calling the program “woefully naïve” and urging the campus to cancel the DNA testing. The Center for Genetics and Society in Berkeley made similar complaints.

All this happened before many L&S faculty had heard about the program. An e-mail describing “Bring Your Genes to Cal” was sent to L&S faculty members on May 19, to the surprise and consternation of several professors who specialize in issues of informed consent, genetic privacy, human subjects research and the meaning of using genomics in areas ranging from forensics and paternity testing to biomedicine.

“At UC Berkeley, we have half a dozen people who do research on these very topics,” said Charis Thompson, former director of the campus’s Science, Technology and Society Center and a professor and chair of the Department of Gender and Women’s Studies. “With their input, Berkeley could have designed the best program in the world on this subject.”

Thompson worked behind the scenes to try to improve the program, suggesting not that it be scrapped or shut down, but that the emphasis be on teaching students the science and ethics rather than testing them.

“Learning to do an assay or learning about the economics of genomics or about who is likely to encounter testing through personalized medicine versus who might encounter it through the criminal justice system are topics eminently worthy of consideration by students at a major public research university,” Thompson said.

UC Berkeley sociology professor Troy Duster, who in the past has criticized genealogical and race-based DNA analysis as inaccurate and misleading, laid out what he considered major problems with UC Berkeley’s program in an op-ed in the Chronicle of Higher Education. Not only are DNA tests prone to error, he wrote, but interpretation of the results vary with the individual, making personalized interpretation essential. He and Thompson both questioned whether incoming freshmen could truly give “informed consent” for even limited DNA testing, since they would be unlikely to appreciate all the consequences of their decisions, even if they had read the written materials accompanying the On the Same Page packet.

“There needed to be more teaching before testing,” said Kimberly Tallbear, an assistant professor of environmental science, policy and management who consults with indigenous peoples regarding genetic research. She compares the students to the indigenous tribes she works with, who are “trying not just to be recipients of syringes and cheek swabs, but who are actually participating in and even directing the research process, figuring out what the true research questions are for them.”

California Department of Public Health steps in

Rine said that he and Schlissel had considered testing after the introductory “Bring Your Genes to Cal” lecture rather than before, but chose the latter “to reduce to the lowest possible extent any chance of coercion and to make sure that the students have the benefit of family participation in the testing decision. We then chose to not reveal any test results until after the students have had a chance to listen to the lecture on these variants and have access to substantial educational materials relevant to this subject.”

Thompson, Tallbear and others met with Schlissel in an attempt to reshape the program to make teaching come first, resulting in a few changes to the program, including the offer of genetic counseling to students who request it.

“I believe that the program has been improved by the input and contributions of campus experts in the areas of science and society, ethics and medicine, and the legal aspects of privacy and genetic information,” Hesse said. “The program still has the unanimous and full support of all the deans, including myself.”

In the end, the California Department of Public Health mooted the issue. In an Aug. 10 meeting in Sacramento, director Dr. Mark Horton told Rine and campus lawyers that the department interprets federal law to mean that any DNA test, because of its inherent health implications, must be ordered by a physician and performed by a licensed clinical testing lab if the results are to be shared with the DNA donor.

Because the deadline for returning samples to UC Berkeley had already passed, along with the chance to get medical authorization. Schlissel e-mailed incoming freshmen and transfer students, telling them that they would not receive their results.

“This ruling relies on an interpretation of legal statutes that is entirely different from the interpretation of the same statutes by UC’s top lawyers,” he said. “We selected the three genetic variants because we think they are interesting and informative without being medically relevant or actionable. The Department of Public Health thinks otherwise, and we will abide by the law.”

Disappointment all around

Thompson, who will not be participating in campus-wide discussions of genetic testing, was disappointed at the outcome.

“I didn’t want this thing closed down,” she said. “What are the students getting from it now?”

An unscientific survey of new students found similar dissatisfaction with the state health department’s dictate.

“I’m really disappointed about that,” said Lauren Zakskorn, a freshman who plans to major in cognitive science. “That was the whole reason I did the DNA thing, … to find out what my results would be. So, to not find out kind of makes it … not as interesting.”

While many students mentioned genetic privacy issues as among the reasons for not participating, for others, the excitement of learning something about their genes trumped concerns over what would happen to their DNA.

After discussions with her parents, Zakskorn admitted that she “had to take a step back and realize (that) it’s a big deal … to take your DNA. … They could clone you or something crazy …. (You are) giving away a lot of information about yourself and don’t even realize it.”

Whatever the level of discussion next week, students will have experienced something unique in their first encounter with UC Berkeley.

“I think the program is wonderful and raises a profound philosophical question about a fundamental aspect of the human condition: that our knowledge exceeds our understanding,” Hesse said. “That is a powerful message for our freshmen, and for all of us who continue to grapple with it.”

Related information

•  On the Same Page program

•  UC Berkeley alters DNA testing program (Aug. 12 new release)

•  Berkeley Blog posts about Bring your Genes to Cal