This article has been updated to note that UC Berkeley has decided to not offer students 23andMe gene scans as a prize related to its personalized medicine education effort.
Originally published May 25.
By Turna Ray
Going ahead with its plans to offer voluntary genetic testing to incoming freshman, the University of California, Berkeley, seems to not be thwarted by numerous detractors of the direct-to-consumer genomics model who have criticized the effort.
UC Berkeley last week announced its plan to launch a voluntary program this fall that will test students in the Class of 2014 for three genes involved in the metabolization of alcohol, lactose, and folates. The announcement capped several controversial weeks for the DTC genomics sector, during which the marketing practices of Pathway Genomics brought regulatory action from the US Food and Drug Administration and spurred a congressional probe into the consumer genomics industry (PGx Reporter 05/19/10).
Upon announcing its gene testing plans as part of its "On the Same Page" program intended to introduce incoming students to an intellectual or thought-provoking experience, at least two organizations, the Center for Genetics and Society and the Council for Responsible Genetics, urged UC Berkeley to halt its plans.
In a statement on the CGS website, an analyst from the center pointed out that since federal regulators feel the direct-to-consumer genetic testing model "is a problem in the eyes of federal regulators," then perhaps UC Berkeley should hold off on its plans to introduce genetic testing to "thousands of eighteen-year-olds."
Similarly, CRG sent a letter to UC Berkeley Dean Mark Richards, calling the university "woefully naïve" for asserting that the genetic testing data that the students will learn "can only lead to positive outcomes."
While UC Berkeley's genetic testing program is meant to inform students about the rapidly evolving field of genetics and medicine and the information page about the effort discusses how this data might impact students' healthcare decisions, the university currently has no plans to conduct an outcomes study to see if genetic data collected through the program was actually used by students to change their lifestyle.
"We have no plans to turn this into a longer-term study involving outcomes," Mark Schlissel, dean of biological sciences and professor of immunology and pathogenesis at UC Berkeley, told Pharmacogenomics Reporter this week. "This is beyond the scope of our education mission for the fall semester."
Others in academia have mixed reactions to UC Berkeley's genetic education plans. Some feel that giving students a hands-on experience with regard to personalized medicine will educate and better prepare young adults for making healthcare decisions based on their genes in the future. While UC Berkeley's program currently stands to be the largest effort of its kind, it is not alone in its strategy.
Stanford University has similar personalized medicine educational plans in the works, but on a much bigger scale, according to Russ Altman, professor of bioengineering, genetics, and medicine. Although Altman could not provide specific details about Stanford's plans, he lauded UC Berkeley's efforts.
Meanwhile, Huntington Willard, director of the Institute for Genome Sciences and Policy at Duke University, told Pharmacogenomics Reporter that five years ago he conducted voluntary and anonymous genetic testing on a smaller scale — for a 30-student freshman class. However, he noted that participants were purposefully tested for SNPs that were not medically relevant at the time, so that students would get an interactive experience of pharmacogenomic techniques but they wouldn't necessarily be concerned about how the data impacted their health.
Other academics maintain that rolling out such programs will do little to engage students in making more informed healthcare decisions. While not speaking for Washington University-St. Louis, Brian Gage, associate professor of medicine at the university, said he believes that if UC Berkeley's intent is to engage students in improving their health, then non-pharmacogenomic health-related programs around safe sex, exercise, and smoking cessation would do more to reach that end.
A far cry from past years when UC Berkeley intellectually engaged incoming freshmen by asking them to read a particular book, such as The Omnivore's Dilemma, this year the university took a more proactive approach. In announcing that it will be offering voluntary genetic testing to new students, UC Berkeley will try to involve "students directly and personally in a genetic experiment of personal relevance [that] would capture their imaginations and lead to a deeper learning experience."
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The materials for incoming freshmen will include a cheek swab for those students who wish to send in a biological sample for genetic analysis. All participating students, whether 18-years-old or minors, will have to read and sign an informed consent form in order to participate.
UC Berkeley scientists analyzing participating students' samples will not be able to identify the participating students since the submitted samples will be de-identified. "The only person who will have access to a specific individual's test result is that individual," the university states on a Frequently Asked Questions page about the program.
University scientists have assured that they will only test for the three gene variants and that the patients' samples will be destroyed after that work is complete. "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 university informs.
Although genetic testing is voluntary, all 5,500 incoming freshmen and new transfers will be able to take part in the broader discussion on personalized medicine by perusing an electronic bookshelf of materials put together by the university's organizers, joining discussion panels on the subject, as well as attending a lecture on the collected data from Jasper Rine, the UC Berkeley genetics professor who conceived the program.
Although the university isn't looking at outcomes associated with genetically testing its students, all students will still be able to discuss the data in a broader population genetics context. "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," according to the university.
Critics of UC Berkeley, such as CGS and CRG, not only believe that such a program is premature in light of federal regulatory action and an ongoing congressional investigation, but have suggested that the company is kowtowing to the DTC genomics industry.
UC Berkeley is running a contest in parallel to the genetic testing effort, asking students to submit a creative work on the theme of personalized medicine. Originally the university had announced that the winners will get a genome scan from Google-backed DTC genomics firm 23andMe.
While the university has maintained that 23andMe will not be involved in genetically testing students, CRG said in its letter that the involvement of the company, "even if ostensibly for a contest prize as part of the program, raises additional serious issues" because it is "essentially creating potential customers for a nascent direct to consumer genetic testing industry."
As this article went to press, UC Berkeley updated its FAQ to note that although the university had initially intended to award 23andMe gene scans for prizes, "we have reconsidered this aspect of our project, and decided not to offer this as a prize."
According to the university, the decision to not offer 23andMe's gene scans was taken in order 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."
Furthermore, the university has denied any conflict of interest with DTC genomics firms.
"Berkeley neither endorses nor condemns direct to consumer DNA testing or any particular company operating in that marketplace," the university said in a statement. "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."
CGS, meantime, noted in its statement that Rine "is a co-founder of several biotech companies" and said that the program "may be good for the direct-to-consumer genetics industry, but it is an abuse of the trust that thousands of young students should be able to place in the university they’ve chosen.”
According to UC Berkeley, the genetic testing program's design and scope has undergone formal review by the university's Human Subjects Research Institutional Review Board and garnered clearance.
However, according to reports, UC Berkeley's genetic testing effort is estimated to cost around $50,000, which comes from an anonymous donor. On its website, the university does not provide an estimate for how much the program will cost or who the funding was supplied by.
"We’re not sure of the final cost as yet because we don’t know how many students will return samples and we have yet to select a commercial lab to perform the testing," the university said in a statement. "We believe that engaging a commercial lab or a fee-for-service core facility in an appropriate institution offers several advantages such as economies of scale, and low and robust estimates of error rate."
In general, the university expects the cost of the genetic testing effort "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."
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Furthermore, the university also disclosed that Rine has no conflicts of interest with DTC genomics firms.
Rine is involved in a company, called Vitapath Genetics, which is trying to uncover the genetic underpinnings of a common birth defect, called neural tube defect. Additionally, Rine played "a very small role" in helping discover the BRCA1/2 mutations linked to hereditary breast and ovarian cancer, and has served on the scientific advisory boards of Affymetrix, Rosetta Genomics, and Perlegen.
Gage — who is very much focused on advancing clinically useful data-driven personalized medicine through his work on genetic testing for warfarin dosing — has doubts that this type of broad testing in the college student population will actually have an impact on the way students live their lives.
"I don’t know if this testing will improve health," said Gage, one of the creators of the online dosing calculator WarfarinDosing.org. "For example, many students with lactase deficiency enjoy and benefit from moderate intakes of dairy products. Finding out that they are lactase deficient is unlikely to improve their health."
Gage added that perhaps the "$40 per student [for genetic testing] would be better spent on other health-related programs, such as smoking cessation, vaccinations for hepatitis B and HPV, condoms, exercise programs, and mental health counseling."
Although critics of the DTC genomics model may debate the ethics of broadly providing young adults genetic information with questionable clinical utility, UC Berkeley's end goal is to give its students a taste of the kind of personalized data that promises to change healthcare in the future. Hands-on training of this kind is certainly a step toward getting students interested in a field in which technology is advancing faster than there are experts to analyze the onslaught of genomic data.
The price of whole-genome sequencing is dropping closer to $5,000, but rolling out sequencing to the general population will require automated analysis of vast amounts of data, greater genetic expertise among doctors to help their patients make medical decisions, and exponentially more genetic counselors to ease people's worries about how this data might impact them and their families in the future.
For example, it took a team of 30 scientists nearly two years to clinically annotate Stanford University Bioengineering Professor Stephen Quake's whole genome sequence (PGx Reporter 05/12/10). Recognizing that the dearth of genomic expertise in medicine today stands as a barrier to the broad integration of genomics into healthcare, Altman, one of the researchers who took part in analyzing Quake's genome, is helping launch several educational efforts.
Altman is on the board of the Association of Genomic Medicine, an effort led by Scripps Translation Science Institute to create a genomic accreditation course for doctors (PGx Reporter 05/12/10).
He was also among a team of Stanford researchers to pilot a web-based tool to teach middle-and high-school students about pharmacogenomics, called DNATwist. The learning program, currently being adapted for the Understanding Genetics website at the Tech Museum of Innovation, in San Jose, Calif., focuses on the genetic underpinnings of alcohol dependence, something UC Berkeley's genetic testing program will also be looking into (PGx Reporter 04/14/10).
"The connection to alcohol, which is a huge problem on college campuses, is a really great idea," Altman said. "It won't solve all the problems, but at least you make genetics extremely relevant."
In surveying students after they used the web learning program, Altman and his research team discovered that students were more interested in the medical applicability of phramacogenomics data than previously thought. Students expressed a desire to learn about genes involved in metabolism of certain prescription drugs, as well as about genes linked to depression. These may become future subjects to feature through DNATwist.
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Altman wouldn't reveal any specifics about the genetic testing project Stanford is planning to roll out for its students, saying the university has "not hit the right plan yet." However, he did note that Stanford's effort would be on a "larger scale" than UC Berkeley is attempting.
"I think it's a great thing to do," Altman said of UC Berkeley's program in an e-mail. "They have avoided huge controversy (not all) by making it three focused tests, and it is a great way to bring genetics into the routine public consciousness."
While Duke currently has no plans for broadly introducing genetic testing on its campus, the university has "slated a discussion of the 'Berkeley experiment' in order to assess what interest or value the students would attach to such an exercise," Willard told Pharmacogenomics Reporter.
Geoffrey Ginsburg, director of Duke's Center for Genomic Medicine, added that the university has a number of "focus groups" examining the landscape for a genetic testing effort. In past surveys, students "are interested in genetics, know that it will likely play a role in their future lives and the lives of their families, and are eager to learn more," Ginsburg said. Although no plans have yet been solidified, he noted that Duke has discussed using genetic testing as a educational strategy for not just undergraduates, but for medical and nursing students, as well as residents and physicians,
Duke students have experimented with genetic testing as an educational tool on a smaller scale in the past. When in 2005, Willard conducted voluntary sequencing in a freshman class, approximately 20 students out of 30 volunteered, but everyone saw all the de-identified data. In looking at their data, students found variants considered to be new at the time, and explored what the literature indicated about the impact of the identified SNPs.
"We sequenced about 15 regions of the genome, surrounding previously described SNPs that were in genes 'of interest' but not known to be medically relevant; this was by design, in order to avoid the very concerns that have popped up in reactions to [Rine's] plan at Berkeley," Willard said.