Blogbeat: Are Student Gene Tests Science or Market Research?

By Thomas Lord
Monday August 09, 2010 - 05:53:00 PM

This week’s theme: UC Berkeley asked incoming freshmen to volunteer for genetic tests this year. The program was met with accusations that it is bad science. Some have also charged that the program is the corrupt product of commercial and personal conflicts of interest. We examine the arguments for these accusations by examining source materials found on the Internet. 


Welcome Freshmen: May We Have Some Skin from Inside Your Mouth?


UC Berkeley will be performing genetic tests on some incoming freshmen this year. Freshmen have been invited to volunteer for the testing as part of the “On the Same Page: Bring Your Genes to Cal” orientation program. 

The project, led by Professor Jasper Rine, “[explores] the theme of Personalized Medicine – the set of emerging technologies that promises to transform our ability to predict, diagnose, and treat human disease.”  

In the experiment, volunteer students will submit mouth swabs which the university itself will then test for three particular genetic variations. One variation is present in the approximately 80 to 90% of people who, in adult life, become lactose intolerant. Another test reveals the presence or absence of a low ability to metabolize alcohol without certain side effects. The third test looks for variations which reduce the body’s ability to metabolize the vitamin folic acid. 

Cal offers some health advice: (1) Make sure you get enough calcium and vitamin D even if you are lactose intolerant; (2) Most freshmen are under 21 and so you shouldn’t be drinking anyway; (3) If you have trouble processing folic acid, consider eating lots of leafy greens or taking a supplement. 

Controversy: Is This Bad Science?

The specific kinds of advice that Cal is offering is what is know, these days, as “nutritional genomics”. That field explores the hypothesis that by looking at genetic variations like the three Cal will be examined, customized dietary advice can be offered which, if followed, leads to better longer term health. 

The three genetic variations tested in this experiment are not controversial. One really does indicate lactose intolerance, the other problems in metabolizing alcohol, the third problems in metabolizing folic acid. There is no controversy over the interpretation of the tests to that extent. Where controversy arises in the leap from those observations to detailed dietary advice. 

Nutritional genomics is not without its critics. At this point, the notion of devising a diet for better long term health based on a few genetic tests is, in the view of critics, an interesting but unproved hypothesis – nothing more. They are concerned that the rapid push to commercialize nutritional genomics is just another form of snake-oil quackery, as likely to do harm as good. Here is how Pantelis Konstantoulakis (University of Westminster) and Andreas Zourdos sum it up after surveying the literature: “In the name of genetics from now on, nutritional advice has a whole new different meaning, since it carries the potential to manipulate one’s genes! How can one not stand in awe? Time now for a reality check: the evidence for the effectiveness of ‘nutritional genomics’ is non-existent, just like the regulation and laws on these matters. It is pretty fair to say that this story is more science fiction than science based. Pompous scientific terminology is not evidence. The truth is that ‘nutritional genomics’ is the answer to an irrelevant question.” 

The discussion resulting from that scathing review spread over to another blog called Nutritional Blogma. In the comments that follow the post “Does nutrition need a new research paradigm” Zourdos dukes it out with some of the researchers that he’s criticized. He defends his case well.  

Controversy: Is This Bad Science, Part 2?


On July 14, 2010, UC Berkeley’s Dr. Mark Shlissel (Dean of Biological Sciences, College of Letters and Science at Berkeley) spoke briefly with National Public Radio’s program All Things Considered. He remarked: “[W]e purposefully chose three genes that are not disease associated.” 

On August 5, reported

“His statements puzzled Dr. David Goldman, section chief of the human neurogenetics lab at the National Institute on Alcohol Abuse and Alcoholism. (NIAAA) 

“’He said it [the genetic testing] just has interesting social complications, but in fact he's completely wrong,’ Goldman said. ‘There are two important medical implications for the test.’” 

Of the test related to alcohol metabolism Goldman remarked that one possible outcome of the test indicates a significant risk for esophageal cancer, compounded by greater capacity for alcohol abuse. 

Another of the tests – the test folic acid metabolization – drew a comment from Eva Mergen on the NPR story: 

“I am a obstetric medical transcriptionist and I type consultation reports on pregnant women who have the MTHFR mutation. The fact that folic acid is not properly metabolized can cause severe birth defects in the fetus if the mother does not take extra folic acid supplementation from very early in the pregnancy. Additionally, if you have a certain combination of copies of this mutation it can lead to a higher homocystine level, which can lead to a slightly higher risk for blood clots. Some women even take prophylactic anticoagulation during pregnancy, becuase pregnant women are already at increased risk for blood clots. “ 

Her particular observation about folic acid health risks is particularly interesting in light of the controversy over possible conflicts of interest: 

Controversy: Is the Experiment the Result of Conflicts of Interest?

The web site for the “Bring Your Genes to Cal” program contains an FAQ (a list of frequently asked questions provided with their answers). It contains a curious question: 

Does Professor Rine have any potential conflicts of interest between his role as the main speaker in this program and his involvement with biotechnology companies?” 

The answer begins: 

“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.” 

The answer goes on to point out that Rine is one of the founders of Vitapath Genetics and describes that firm as “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.” 

If your eyes glaze up at that description of Vitapath, perhaps that’s the point: 

An example of an NTD is Spina Bifida, a birth defect that can be largely prevented by appropriate doses of folic acid during pregnancy. As Mergen remarked in her comment to NPR, one of the three genetic tests being given by Cal is very relevant to that folic acid preventative. 

That may seem a tangential connection to Vitapath’s work but for another recent announcement. On the 30th of July, Vitapath Genetics issued a joint press release, with the Spina Bifida Association and the National Council on Folic Acid. VitaPath was releasing a new (free) iPhone application – the VitaTrack Folate Tracker. 

The program “allows women to track their daily intake of folate and folic acid.” 

Of course, presumably a genetic test – such as the one offered to incoming Cal students – would arguably make such a program more useful by (hypothetically) helping to establish what level of folate and folic acid intake is ideal. Vitapath says of their science: 

“At VitaPath Genetics, our research programs were established to broadly investigate how vitamin and cofactor utilization is influenced by genetics. In developing our Technology Platforms, we assembled best-in-class technology components from modern molecular biology, model system genetics and statistical analysis. 

“Our mission is to focus only on genetic mutations that are shown to be biologically functional and that can be remediated with minimal risk. In doing so, we can improve the quality of life for our customers and reduce the overall cost of healthcare.” 

In no small part, that means they look at your genes and suggest what you ought to be eating, according to their theories. 

Whether by intent or not, the Cal experiment on freshmen will certainly lead to (confirmatory) quantitative data about the presence of the folic acid mutation. Since the experiment is often presented as an example of nutritional genomics, it will effectively advertise for the VitaTrack iPhone application. And while it is certainly true that VitaPath charges no money for that application, the application does create enhanced awareness of VitaPath’s brand and likely eventual products – all in the context of creating a population of experiment subjects with heightened anxiety about their genetic make-up. 

Head in the Sand?


On July 13, Rine made his “first blog entry ever” on the official blog for the “Bring Your Genes to Cal” program. He begins: “To the 2010 entering class of the College of Letters and Science, welcome [....] By now you certainly are aware that the topic of this year’s program is Personalized Medicine. [....]” 

After explaining the scientific and technical context he says: “You may have noticed in the press that our project has gained a lot of attention and stimulated some controversy. Indeed, one could never expect any advances with the potential of personalized medicine and personal genetic information to not be surrounded by controversy. The year-long events associated with the On the Same Page program are designed to explore these controversies.” 

He moves on to name two aspects to the controversy: concerns about privacy and concerns about discrimination. There is no mention made about the quality of the science and the health recommendations, nor about the perceived conflicts of interest. 

Those omissions seem like gaps Rine will eventually have to fill more directly. 

Until next week, do be in touch: