Originally published Aug. 13.
By Turna Ray
While the California Department of Public Health's bid to curtail an educational exercise in personal genomics at the University of California, Berkeley, could be considered a setback for the program, a UC Berkeley professor said this week that it has actually given students an opportunity to debate the ethical, legal, and societal issues associated with increased public access to genetic data.
"Most of the benefit of this program has already been had," UC Berkeley genetics professor Jasper Rine said during a call held today to announce changes in Berkeley's "Bring Your Genes to Cal" project.
"Every single student who opened an envelope had to make the judgment for themselves: 'Do I want to subject myself to genetic testing of three variants that we think are quite innocuous or do I not?' And that's a really important lesson, because the first thing they encounter with Berkeley is that really smart, well-trained people can reach different decisions based on the same information," he said.
"That's a life lesson that I'm thrilled to have been able to teach," Rine added.
Three months ago, the university first introduced plans to launch a voluntary program for incoming freshmen this fall that would test for three genes involved in the metabolization of alcohol, lactose, and folates (PGx Reporter 05/25/10). The project would be part of UC Berkeley's "On the Same Page Program," which each year attempts to engage new students in an intellectual exercise focused on a particular topic. UC Berkeley chose personalized medicine for this year's topic and had hoped to give students a small piece of their own genomic profile with which to engage in the program.
However, after conversations with the CDPH and a meeting with top state health regulators yesterday in Sacramento, UC Berkeley will be served with a directive asking it to halt the dissemination of genomic data to individual students since the genetic analysis was not performed at a CLIA-certified laboratory and is being delivered without the involvement of students' doctors.
As a result, the university will not release individual test results to students but will instead provide the results in aggregate form with the goal of engaging students in discussions about the ethical, legal, and social implications of personal genomics.
"The CDPH made a determination that what we're doing isn't actually research or education. They think we're doing a clinical test and providing medical information to students," Mark Schlissel, dean of biological sciences at UC Berkeley’s College of Letters & Science and a professor of molecular and cell biology, said during the call. "We disagreed with the interpretation of this law and set of requirements."
After the CDPH initially began raising questions about the program after UC Berkeley announced the project in May, the university sent a letter to health regulators on Aug. 2 asserting that the California Business and Professions Code, which guides the operation of laboratories in the state, includes an exemption for labs performing tests for research and teaching purposes and that do not report results to patients as part of a medical or health assessment.
"Because the UC Berkeley program is an educational experiment, the students are not patients, and [because] the three specific genetic variants are not disease related, CLIA rules and the California statute do not apply," UC Berkeley explained in a statement at the time.
Although UC Berkeley argued that its voluntary genetic testing project was part of an educational effort and thus exempt from laws and regulatory requirements for commercial genetic testing, state health regulators were unmoved.
Ahead of CDPH action, UC Berkeley had already sent out saliva-collection vials to 5,000 students. As of the end of last week, approximately 1,000 students had volunteered to participate in the project and sent in a saliva sample, the university said.
"We will go ahead and test these student samples in one of our campus research labs but we will not release individual test results to students," Schlissel said. "We will release the results in the aggregate form, talking statistically about the student population as a whole and these three common genetic variants as Professor Rine's initial teaching program on this topic. The rest of our program will consist of public seminars and panel discussions about the ethical, legal, and social implications of this work."
Indeed, UC Berkeley has decided to take advantage of the issues raised by CDPH's action and engage students in discussions on the societal and ethical implications of who should be able to access and control the flow of individual genomic information. "This is a robust learning experience that will continue regardless of this exercise," Schlissel said.
"As a result of questions raised in the last few months, the program will focus prominently on the politics of genetic testing and whether individuals, rather than physicians and public agencies, ultimately control their own genetic information," the university said in a statement. Schlissel plans to invite CDPH director Mark Horton to join one of this fall's panel discussions on personalized medicine.
The CDPH action against UC Berkeley came one day after this week's defeat of an assembly bill (AB 70) in the California State Senate Education Committee that sought to restrict funding to UC Berkeley if it asked students to participate in its genetic testing program for educational purposes(PGx Reporter 07/14/10).
Around the time UC Berkeley announced its genetic testing project, privately funded Stanford University also announced it would offer MD/PhD students the chance to be genetically tested as part of an elective course being offered in the summer quarter (PGx Reporter 06/09/10).
However, Stanford may have avoided CDPH's scrutiny since its genetic testing project is limited to a smaller number of students in a classroom setting. Also, while the UC Berkeley program offered students testing for free, Stanford is asking its students to pay for part of the test in order to avoid any accusations that the university tacitly coerced students to get genetically tested.
IRB Yes, CLIA No
According to Rine, the design of UC Berkeley's genetic testing project was cleared by an institutional review board, an independent body that ensures that studies involving human subjects meet certain standards. Rine explained that the university and the IRB chose to test for three SNPs that were common and that would confer information that students would be familiar with and interested in.
"With the help of the IRB we considered all possible misuses of this information … and we felt, and the IRB agreed, that we could manage the risk that a student would learn the reason why they had an upset stomach when they drink milk as a genetic explanation… that they might decide to drink less alcohol when they turn 21 than they would have otherwise, and we thought we could manage the risk that a student might [decide] to eat more leafy greens to get more folic acid," Rine explained.
UC Berkeley even considered whether students who were not carriers of the polymorphism in the gene encoding the ADH1B enzyme, making them not prone to alcohol flush reaction, would be more likely to abuse alcohol. University experts determined that that information wouldn't make students more likely to abuse alcohol, Schlissel added.
In an effort to appease health regulators and continue its research project, UC Berkeley earlier this summer attempted to hire a commercial CLIA lab to conduct testing for its program, even though it would have been five times more expensive than doing it in its own lab facilities. But after reaching out to a dozen labs, the university was unable to find a commercial facility that would agree to test for only three SNPs.
The university also explored testing other, seemingly more innocuous, SNPs, such as variants for hair color. But even there, it risked providing medical data, since certain variants that cause red hair color may also make individuals more susceptible to sun burn.
In light of the confusion surrounding the Berkeley program, Rine highlighted the need for separate rules for providing direct access to genetic information for education and for providing genetic data for medical decision-making.
"We're at an odd point in time when everyone's best interests seem to be boxed by the precedent and interpretation of legislation and the need to be consistent," Rine said. "And it may be that we need new legislation to allow the flexibility to address these questions in a commonsense kind of way."
CDPH's action against UC Berkeley mirrors the regulatory action it took against a handful of direct-to-consumer genomics companies a few years ago, asking them to conduct their genetic analysis in a CLIA-certified lab and with the involvement of a doctor (PGx Reporter 06/25/08).
The state's decision to regulate a university research program under the same requirements as commercial DTC testing firms may have broader consequences for university-led biomedical research, according to Schissel.
"This may have a chilling effect on biomedical research, which does require the voluntary participation of all of us to work on the next generation of medical advances," he said. "We're going to have to get clarity on this on behalf of the biomedical research community not simply for educational purposes … Any of the things we study in research labs we're studying because they are not commercially available. We're doing discovery science here at Berkeley."
UC Berkeley is particularly concerned that CDPH's ruling would curtail research on genes about which little is known and which are not commercially marketed. "In effect, [CDPH's action against Berkeley] would put most of the human genome off-limits for meaningful educational projects," Rine said in a statement.
By 2013, a million American are expected to have their entire genomes sequenced, according to Rine, who pressed for the urgent need for genetics education through programs like the one at UC Berkeley and elsewhere.
But despite the regulatory hiccups, UC Berkeley will still be able to teach its students some important lessons about the societal impact of genetic data.
"In some ways [CDPH action] limits the program, and in other ways it enhances the program," Schlissel said. "The limitation is that the students who have submitted their DNA samples … will not have the access we promised them about information in their own genomes … and that might lose some students' engagement in the educational process." Schlissel noted that the hands-on genetic experience would have been particularly important for engaging non-biology students in the educational exercise on personal genomics.
On the other hand, "the perhaps unintended positive aspect of this is that it opens up in a real way a whole domain of questions, such as who has the authority to tell an individual what they are allowed to know about themselves," Schlissel continued. "This is a very important question for public debate and consideration."
Although UC Berkeley cannot provide students with their individual testing results, Schlissel urged students who are disappointed that they didn't receive their test results to ask CDPH why they can't have access to their own data.