Berkeley has created some controversy by asking its first year and transfer students to send in a DNA swab for genetic testing as part of an orientation program (On the Same Page) considering personalized medicine. The University’s idea is to allow students to use their own DNA to explore both the promise and limitations of gene testing. In principle, the program is voluntary and confidential; however, it has sparked many concerns about issues of privacy and informed consent.
- Are the students really being treated as test subjects in a scientific experiment?
- Is the informed consent being obtained really informed?
- Will students have adequate counseling about their test results and any concerns that arise?
One article suggests that the University is blurring of the line between science education and science research.
Reviewing Berkeley’s informed consent video, it appears that a lab (which is not identified, but to be selected based on competitive bidding) will be analyzing a student’s DNA for gene variants which, according to the video, “may affect aspects of your health that you can address by simple, safe changes in your diet.”
The three genes being evaluated include:
- lactase ( necessary to digest milk and milk products properly)
- aldehyde dehydrogenase (an enzyme involved in metabolizing alcohol)
- methyltetrahydrofolate reductase (an enzyme that, together with the vitamin folic acid, converts a metabolite called homocysteine into an amino acid called methionine).
Students are told that awareness of their results may or may not have a positive impact on their health.
- One of the positive aspects cited is the potential to adjust elevated homocysteine levels using vitamin supplements.
- One of the negative aspects cited is that “knowing something about your genes may be upsetting.”
Students are reassured that there will be many ways of participating in the orientation without providing a DNA sample and that not participating will have no impact on their grades. In addition to the video, there’s a very detailed FAQ Web page provided that responds to potential concerns students may have.
The DTC genetic testing controversy
The FAQ page acknowledges the current controversy over direct-to-consumer (DTC) genetic testing, stating “These commercial tests give consumers information about their genes that is potentially medically relevant without going through a physician.”
This is an evolving area of regulation and there are many issues that surround obtaining genetic information without “going through a physician.” Currently, the FDA’s position is that DTC gene tests should be regulated as “medical devices.” A genetic test is only subject to FDA regulation if it is categorized in this way. The term “medical device” is a broad one that includes any test that is “intended for use in the diagnosis of a disease or other conditions, or in the cure, mitigation, treatment, or prevention of disease.” For example, applying this definition, a test that provides an assessment of cancer risk is a medical device, whereas a test that verifies a person’s ancestry is not. Where a test that provides an assessment of nutritional genomics falls is not that clear.
According to the FDA, “none of the genetic tests now offered directly to consumers has undergone premarket review by FDA to ensure that the test results being provided to patients are accurate, reliable, and clinically meaningful” (Shuren, 2010). The FDA has sent warning letters to numerous DTC genetic testing companies including Knome, Inc; Navigenics; deCODE Genetics; 23andMe, Pathway Genomics, and Illumina, and letters continue to be sent out. Companies have been invited to discuss their regulatory status and hearings are currently underway.
The US Government Accountability Office (GAO) also has been calling DTC genetic testing companies to task recently, finding that many of the companies offering genetic tests have made misleading claims and that the tests offered by some companies are unreliable.
Some in the scientific community complain that the GAO is vilifying an entire industry because of a few bad players and that it fails to understand the complexities of genetic testing. I think this is very much the point. Genetics is complex and the stakes become much higher when tests potentially impact how a consumer modifies his/her health care strategy.
Student testing: Where’s the controversy?
What harm is there in letting students know they’re genetically lactose intolerant? Haven’t they already figured it out? A similar argument can be made for letting students find out how their genes can impact how they handle alcohol. The case for methyltetrahydrofolate reductase testing is probably a bit muddier. Very high homocysteine levels can cause health problems, but there’s no general agreement on the impact of modest elevations.
I confess to having mixed feelings about the issue. I generally believe that consumers have a right to autonomy when it comes to obtaining and accessing medical data. Also, I’m all for evidence-based personalized medicine. However, there are reasons why DTC testing creates problems.
Informed consent is about a conversation
Physicians generally know that informed consent is not about obtaining a signature on a form. It’s about a conversation. In that conversation, the patient acknowledges that he or she:
- Has been offered the opportunity to ask questions and to discuss the benefits, risks, and limitations of the genetic test(s) to be performed
- Has discussed the reliability of positive or negative test results
- Has discussed the limitations of the genetic test(s) as a predictor of disease or condition
- Has been informed about the availability and importance of genetic counseling
- Has read and understood any written documentation relating to consent
- Will discuss results of testing with a health care provider, including how the results can be used in the patient’s health care strategy
Additionally, physicians obtaining consent typically take some pains to verify a patient’s understanding.
Engaging learning or putting the cart before the horse?
Berkley notes in its FAQ that it could have sent out a book or a set of magazine articles out as a “study object” but 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.” At the same time, the University is creating “an electronic bookshelf of materials for [students] 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.”
Berkeley seems to acknowledge that a program is needed for students to learn about the promise, limitations, and risks of genetics testing. That’s a very worthy conversation to have. But asking students to have the real conversation after they’ve submitted samples seems a bit backward. In my opinion, access to an electronic bookshelf doesn’t really remedy the problem. As a reminder, we’re talking primarily about kids just out of high school (yes, I know it’s Berkeley, but just the same). There are many ways to engage a student’s imagination, but maybe this wasn’t the best one to choose.
Direct-to-Consumer Genetic Testing and the Consequences to the Public, Statement by Dr. Jeffrey Shuren, Director of the Center for Devices and Radiological Health (CDRH or the Center) at the Food and Drug Administration. FDA, U.S. Food and Drug Administration. Retrieved July 29, 2010 from http://www.fda.gov/NewsEvents/Testimony/ucm219925.htm