Genetic Testing: GAO Report
Chester J. Zelasko, Ph.D. | December 27, 2006

Over the past several months, we’ve gotten questions about the value of genetic testing in light of the Government Accounting Office testimony presented to the Senate Special Committee on Aging this past July (1). Many groups have commented on the report, from Consumer Union to the Genetics and Public Policy Center. They have condemned commercially available genetic testing as a ruse on the public. After reading the report as well as several commentaries about the report, here’s my analysis on both.

The GAO Report
The first question most people have when I mention the GAO Report is a very simple one: why is the Government Accounting Office investigating commercially available genetic test kits--shouldn’t scientists be doing that? Evidently the GAO did it because they were asked to do it. It’s as simple as that.

How they did it is interesting. The GAO investigators purchased 14 different genetic test kits from four different companies through the internet. These test kits examine specific single nucleotide polymorphisms (SNPs) that may be related to cardiovascular disease, cancer, and osteoporosis, among others. They took the samples from a single male for two of the test kits and a single nine-year-old female for the remaining 12 test kits. Then they created fictitious profiles for the 14 different tests: different ages, lifestyles, smoking patterns, eating patterns, and exercise patterns. In other words, the DNA came from only two people, but they created profiles for 14 people.

You may think that’s sneaky, but it makes sense. The reason is that you want to make sure they’re really testing DNA, not just discarding the sample and giving recommendations based on how the subject answered a questionnaire.

The rest of the paper focused on the recommendations from the companies that provided the genetic tests. The comments from the GAO were not complementary. While it was the bulk of the paper, there were three main points the GAO focused on.
  • The gene-testing companies’ recommendations were common-sense lifestyle recommendations based on the profiles provided, with little regard for the DNA.

  • In spite of numerous disclaimers by the companies about what genetic tests do and do not mean, the GAO concluded that the companies were diagnosing disease with the genetic tests.

  • All the testing companies provided expensive supplementation programs in addition to the lifestyle recommendations.
Several bioethics and consumer agencies picked up the report and spread the criticisms like wildfire. But is the criticism warranted?

The Real Deal
After reading the report thoroughly, there are several points that need to be made which were somehow overlooked.
  • Much was made of the profiles not matching the DNA provided. The simple fact is that DNA doesn’t reveal a person’s age or lifestyle. Not a single profile the GAO created matched the actual age of the individuals, but that didn’t matter. Touting the deception is meaningless because DNA wouldn’t have revealed anything different.

  • The GAO report didn’t provide any information about differences that may have been due to DNA. For example, the SOD2 is one of the many oxidative systems in the body that repair cellular DNA. Smoking and a high-fat diet could make the recommendations different for someone who had a mutated form of the gene rather than the normal SNP, but without revealing the subjects’ true DNA status, we have no way of knowing if the recommendations corresponded with the DNA. The GAO didn’t report that. Rather, they concluded that the recommendations were solely based on the answers to the questionnaire.

  • In reality, the recommendations might have been similar, no matter what. Nutrigenomics is a new field and as specific nutrients are identified that benefit specific gene patterns, the recommendations will be more specific. The GAO did not acknowledge that in the report.

  • But the biggest problem with the report was the lack of information on the DNA testing itself. One single sentence stated that there was a single discrepancy between all the samples sent for analysis. All the rest matched in spite of the attempt by the GAO to deceive the companies by sending DNA from the same individual. That’s the most significant finding of the study. The GAO also submitted dog DNA, cat DNA, and blank swabs; all were returned by the companies as unable to be analyzed. Let me repeat that: the DNA tests were accurate, but instead of making that the focus, the GAO focused on the companies’ interpretations of the individuals’ lifestyles.

  • The real problem is that think tanks that discuss genetic testing and its implications for the public got it wrong. At least two well-respected think tanks stated in reports after the release of the GAO Report: “Even though the DNA was identical, the genetic test results were not: clearly, the labs were unable to reliably reach the same conclusions about the same DNA.” That’s incorrect. The results of the DNA tests were never reported in the GAO Report. How do they know the test results did not agree? The interpretation of those test results will always be subject to criticism but not the results of the tests themselves. Yet this is what was and continues to be propagated across the internet. In these cases, the scientists are specifically omitting information to provide a biased view of genetic testing, and that’s just plain wrong.
Bottom Line
Every day, genetic research identifies more SNPs that may be related to the risk of getting certain diseases. What you should know is that while you may have a mutated form of a specific gene, it doesn’t mean you’ll get that disease--it just means that your risk may be higher. If that knowledge prompts you to improve your lifestyle, what’s the harm in that? You can’t change your genes, but you can modify the way they act. (To learn more about genes and genetic testing, purchase a copy of It’s Not Just Your Genes from Better Life.) The knowledge of how your DNA impacts your health is incomplete at this time, but when your health is at stake, it smarter to act on what we know now rather than wait for all the research to be completed.

References:
  1. Nutrigenetic Testing: Tests Purchased from Four Web Sites Mislead Consumers. GAO Report to the Senate Committee on Aging. July 2006.
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