Results Contain Health-related Predictions That Are Both Medically Unproven and Meaningless

Although there are numerous disclaimers indicating that the tests we  purchased do not diagnose disease, the 14 results we received predicted  that our fictitious consumers were at risk of developing a myriad of  medical conditions. These predictions were similar for all of our fictitious  consumers, no matter which DNA or lifestyle description we used. Results  from the tests we purchased from Web site 4 also stated that our fictitious  consumers were at below average risk for developing certain diseases.  However, after consulting with outside experts, we determined that these  predictions cannot be medically proven at this time. Even if the  predictions could be medically proven, the results use ambiguous  language to describe the supposed health risks, rendering them  meaningless.

		Claims That Test Results Will Not Diagnose Disease

As shown in table 1, the results we received from the tests we purchased  from all four Web sites contain statements indicating that the information  they provide is not intended to diagnose disease or predisposition to  disease. The results also contain language stressing that the tests do not  screen for genetic disorders and advising consumers to consult with a  physician if they feel that they might be ill.

		Predictions of Medical Conditions Received

Despite these statements, the results we received from the tests we  purchased from all four Web sites do contain medical predictions that a  consumer may interpret as diagnoses. The overriding impression from all  the results is that the 14 fictitious consumers we created are at risk for  developing a variety of medical conditions, as shown in figure 2.
Furthermore, the results from the tests we purchased from Web site 4  even suggested that our fictitious consumers with the female DNA were at  below average risk for developing certain conditions. As comparison, the 2  results we received from Web sites 1 and 3 for the fictitious consumers  with the male DNA contained similar predictions, despite having different  DNA variants from the female sample. Specific predictions from each test  are discussed in further detail below.
With regard to the tests we purchased from Web site 1, the 3 results we  received stated that the DNA sample from the female displayed an  “increased risk of reduced calcium and Vitamin D absorption,” meaning  that she “may be at increased risk of developing osteoporosis.” Results  from the same tests contained similar predictions with regard to risks for  developing high blood pressure, type 2 diabetes, and heart disease. The  DNA sample from the male that we submitted for this test showed the  exact same risks, despite having different DNA variants from the female,  as shown in figure 3.
As shown in figure 4, the 3 results from the tests we purchased from Web  site 2 stated that the DNA sample from the female showed “gene variations  that may alter the body’s ability to metabolize cholesterol” and variations  that may affect “mineral absorption and bone metabolism.” These results  also suggested that “certain protective systems” in the body “may have  altered activity.”
Of the 5 tests we purchased from Web site 3, 3 focused on detoxification, 1  focused on heart health, and 1 focused on bone health. The 5 results thus  showed a range of predictions, including that the DNA from the female  contained gene variations that “may lead to a reduced ability to clear  toxins” and that her “natural antioxidant defenses are less efficient at the  removal of free radical damage.” The results also showed increased risk of  high blood pressure and osteoporosis. The DNA we submitted from the  male showed similar risks with regard to toxins and removal of free  radicals, despite having different DNA variants from the female sample.  See figure 5.
As shown in figure 6, the 3 results from the tests we purchased from Web  site 4 showed that the DNA sample from the female revealed “faulty  methylation patterns” which may lead to “an above average risk for  developing cardiac aging, brain aging, and cancer” and “sub-optimal  glycation,” which can lead to diabetes and increased body fat. These same  results also stated that the DNA displayed a “significant risk of developing  the age related conditions associated with elevated levels of DNA  damage.” Results from the tests we purchased from Web site 4 also  contain predictions that the DNA sample from the female shows relatively  low risk for developing some diseases. For example, all the results from  these tests note that the DNA displayed a “below average risk” of  developing “the age related” conditions associated with “oxidation” and  “inflammation.” According to the results, oxidation can lead to diabetes,  heart disorders, and Alzheimer’s disease and inflammation can lead to  diabetes, heart failure, and fragile bones.

		Predictions of Medical Conditions Cannot Be Medically Proven

Despite the implication that these predictions are based on the DNA  submitted, none of the results we received contained scientific support to  assist the consumer in evaluating their credibility, and there is no evidence  to suggest that the tests have been evaluated by independent experts.  Furthermore, the genetic experts we spoke with informed us that even  though it is possible to make a definitive diagnosis of disease by looking at  certain genes, none of the predictions contained in any of the results we  received can be medically proven at this time. According to the experts,  cystic fibrosis and Huntington’s disease are examples of illnesses that can  be diagnosed based on an analysis of only one gene. In contrast, the  diseases and conditions identified in the test results we received involve  complex bodily processes. According to the experts we spoke with,  although genes are known to be associated with these processes,  scientists have very limited understanding about the functional  significance of any particular gene, how it interacts with other genes, and  the role of environmental factors in causing disease.
With regard to the specific predictions of heart disease, diabetes,  osteoporosis, cancer, altered ability to metabolize cholesterol, and  reduced ability to clear toxins, the experts informed us that research  proving a genetic connection to the development of these conditions is at  a very early stage and there are many issues yet to be resolved.
In addition, the experts we spoke with also stated that the types of tests  we purchased cannot be used to confirm that an individual has a reduced  risk of developing these types of diseases. Therefore, the claims that a  person may be at “below average risk” of developing certain “age related  conditions” based on the analysis of a few genetic variants is misleading.  There could be other genetic variants not tested for that confer risk or  other environmental factors not assessed.

		Medical Predictions Are Also Meaningless

Even if the predictions could be medically proven, the way the results are  presented—using ambiguous language—renders them meaningless. For  example, it is unclear what is meant by a “damaged” gene. According to  the experts we spoke with, although a specific gene can be “damaged” in  that it contains a variation that causes a loss of function or impaired  function, the results do not clearly explain what this means. The experts  also told us that informing someone that they may be at increased risk for  heart disease or that they have “high levels of DNA damage,” “faulty  methylation patterns,” or “altered activity” in certain genes are all  statements that are so ambiguous as to be meaningless. In fact, these types  of predictions could apply to any human that submitted DNA. For  example, according to the experts, many people “may” be “at increased  risk” for developing heart disease because of known and unknown genetic  risk factors; environmental and behavioral risk factors such as obesity,  smoking, and high cholesterol; and the interaction between these genetic,  environmental, and behavioral factors.

	Results Encourage the Purchase of Supplements That Are Overpriced, Make Unproven Medical Claims, and May Even Be Harmful

Results from the tests that we purchased from Web sites 1 and 4 further  mislead the consumer by recommending expensive supplements. The 3  results we received from the tests we purchased from Web site 1  recommend a supplement that is supposedly based on an individual’s  unique DNA; in reality, the supplements are not unique and are simply a  grossly overpriced version of a typical multivitamin. The 3 results we  received from the tests we purchased from Web site 4 similarly  recommend expensive supplements that are supposedly unique to the  consumer; these results also contain medical claims about the  supplements that cannot be proven at this time. Finally, the experts we  consulted informed us that, in some instances, taking certain supplements  may be harmful.

		Supplements Recommended by the Tests Purchased from Web Site 1

The results from the tests we purchased from Web site 1 recommended a  90-day supply of a “personalized, custom” nutritional formula for $295, or  approximately $1,200 per year. According to the product information, this  formula is based on “what your genetic profile reveals as areas in your  body that may need special support.” Despite this claim, when we  examined the listed ingredients, we found that we were recommended the  same product for all 3 of the fictitious consumers we created for this  test—2 of these consumers actually had the DNA from the female, 1 had  the DNA from the male, and all 3 had different lifestyle descriptions, as  previously shown in figure 1. However, when we compared the contents of  the supplements recommended for the 2 fictitious consumers with DNA  from the female with the supplement recommended for the fictitious  consumer with DNA from the male, we found that the ingredients were the  same.
Moreover, the experts we spoke with confirmed that the supplements  themselves are not unique; they contain vitamins that can be found in any  pharmacy or grocery store. To find a comparable product, we went to a  local drug store and found a generic multivitamin with the same  ingredients, though with different amounts, as those in the recommended  supplement. In contrast to the exorbitant price requested for the  supplement, we paid just under $10 for a 100-day supply of this  multivitamin—or about $35 per year, as shown below.
Although these products are not identical, the experts we spoke with said  that both the supplement and the generic vitamin would probably provide  the same nutritional benefits for most people. However, they also  cautioned that the elevated amounts of certain vitamins in the supplement  may be harmful, as discussed later in this testimony.

		Supplements Recommended by the Tests Purchased from Web Site 4

The results from the tests we purchased from Web site 4 recommended a  “personalized” supplement “regimen” costing over $1,880 per year.  According to the results, these supplements are personalized based on the  DNA submitted and lifestyle descriptions provided on the questionnaires,  and they are supposed to help “compensate” for “genetic deficiencies.”  Specifically, the product information accompanying the test results claims  that the regimen will repair damaged DNA through the consumption of 7  pills per day, including    4 tablets per day of a supplement containing over “70 vitamins,  minerals, and enzymes combined with “CAEs”, a proprietary extract  from the Tropical Rainforest botanical Uncaria tomentosa, known as  Cat’s Claw, which has been clinically shown to promote DNA repair in  the body.” A 60-day supply costs $160.    1 tablet per day of a supplement designed to “enhance the body’s ability  to repair damaged DNA.” A 60-day supply costs $50.    1 tablet per day of a supplement to control blood sugar and body fat. A  60-day supply costs $50.    1 tablet per day of a supplement designed to manage the process  “whereby certain genes are activated and deactivated.” A 60-day supply  costs $50.
As with the other products we were recommended, these supplements are  not unique to the consumer. Although the 3 fictitious consumers we  created for this site in reality all had the female DNA, they all had varying  lifestyle descriptions, as previously shown in figure 1. However, we  received the same product recommendation for all 3 consumers. For  example, our fictitious 72-year-old female nonsmoker with a diet high in  protein was recommended the same supplement regimen as our fictitious  45-year-old male smoker with a diet high in fats, which seems illogical  given that the supplements are supposedly developed based in part on the  submitted lifestyle information.
Furthermore, although the regimen touts “Cat’s Claw” as being the  ingredient primarily responsible for DNA repair, the experts we spoke  with told us that these claims are not medically proven at this time.  According to the experts, Cat’s Claw is a plant whose pharmacological  properties are being studied for a wide variety of biological effects, but the  experts were aware of no reports in peer-reviewed scientific literature that  have demonstrated the ability of Cat’s Claw to repair DNA. Furthermore,  although there is some research indicating that taking antioxidants may  help with DNA repair, no pill has yet been proven to repair damaged DNA.  In fact, manufacturers of supplements are prohibited from claiming that  their products can treat, cure, or prevent disease; products that make  these claims are considered drugs and must be approved by the FDA  before they can be sold. The FDA has already sent Warning Letters to  several dietary supplement manufacturers who explicitly claimed that  Cat’s Claw could help treat cancer and arthritis. However, we do not know  whether the FDA would consider a claim of “DNA repair” to render Cat’s  Claw an unapproved drug.

		Nutritional Supplements May Also Be Harmful

Regarding safety, the nutritionists we spoke with said that it is possible  that improper use of dietary supplements can be harmful. For example,  the nutritionists said that taking levels of some vitamins and nutrients that  far exceed the recommended daily allowance may promote cancers and  chronic diseases. A recent statement issued by the National Institutes of  Health also notes that taking more than the recommended daily intake of  certain vitamins and minerals may cause adverse health effects. For  example, smokers who consume excessive amounts of beta-carotene may  be at increased risk for developing lung cancer, while consumption of  excessive amounts of vitamin D and calcium may increase the risk of  kidney stones. Furthermore, we were told that all nutrients or “food  components” can be toxic if provided in sufficient quantities, but the  susceptibility to toxicity varies among the population. For example, there  is evidence that some people may be at risk because of excessive intakes  of vitamin E, folic acid, calcium, or selenium.
When we asked the nutritionists about the safety of specific ingredients in  the supplements recommended for our fictitious consumers, they  generally believed that the supplements were comparable to typical  multivitamins, as previously stated. However, they also expressed a variety  of concerns. For example, one of the nutritionists we consulted  characterized the levels of vitamin B-6 in both products as “disturbing.”  Another felt that the levels of Vitamin A in both were “high,” and that the  supplements from Web site 1 contained excessive amounts of iron,  because iron stays in the blood and could become toxic. Other experts  told us that the supplements could be harmful if taken in combination with  certain medications. For example, Cat’s Claw may have an adverse  interaction with a medication prescribed for people who are at increased  risk for forming blood clots, and individuals taking this medication are  advised to avoid all supplements unless a physician approves.

	Results Do Not Provide Recommendations Based on a Unique Genetic Profile

Results from the tests that we purchased from Web sites 1, 2, and 3  promise recommendations based on the consumer’s unique genetic  profile. However, the 11 results we received from these three sites suggest  that the DNA submitted was not a factor in determining the  recommendations. Rather, the results simply provide a number of  common sense health recommendations based on information we  submitted on the lifestyle questionnaires.

		Tests Promise Unique Recommendations

Although Web sites 1, 2, and 3 acknowledge that information submitted on  the questionnaires is taken into consideration when determining diet and  lifestyle recommendations, the overall implication to the consumer is that  the information derived from the DNA analysis is the most important  factor, as shown in table 2.

		Results Instead Provide Recommendations Based on Information Submitted on Questionnaires

Despite these claims, the recommendations we received are simply  common sense regimens directly linked to the information we submitted  on the questionnaires included with each test. For example, 9 of the 11  consumers we created for Web sites 1, 2, and 3 had the female DNA. If the  recommendations were truly based on the consumer’s unique genetic  profile, then these 9 consumers should have received the same  recommendations because their DNA came from the same source. Instead,  they received a variety of different recommendations, depending on the  fictitious lifestyles we provided for them. For example, when we said that  a fictitious consumer with the female DNA smoked and ate a lot of fatty  foods, we received recommendations to stop smoking and eat fewer fatty  foods. In contrast, when we said that another fictitious consumer with the  female DNA never smoked and did not eat a lot of fatty foods, we received  recommendations to continue to avoid both smoking and eating foods  high in fat. Similarly, when we said that fictitious consumers with the  female DNA did not eat a lot of fruits and vegetables, we received  recommendations to eat more of these foods. However, if we said that the  consumer had a diet rich in fruits and vegetables, we were told to continue  this high level of consumption.
We received similar recommendations with regard to the 2 remaining  consumers we created using the male DNA. For example, for one of the  fictitious consumers with this DNA, we provided a lifestyle description  stating that the consumer ate only moderate levels of leafy green  vegetables, cantaloupe, and eggs—foods that are rich in antioxidants. In  this case, the consumer was told to eat more foods rich in antioxidants. In  contrast, we said that the other consumer with the male DNA ate a lot of  antioxidant-rich foods. This time, we received recommendations to  continue high consumption of these foods. Figure 8 provides further  examples of the relationship between the lifestyle information we  submitted on the questionnaires and the recommendations we received.
These results lead us to conclude that we could have invented any type of  lifestyle description for the DNA we submitted and the recommendations  would simply echo this information. Although these recommendations  may be beneficial to consumers in that they constitute common sense  health and dietary guidance, DNA analysis is not needed to generate this  advice.

	Other Investigative Findings Raise Concerns

During the course of our investigation, we found other information that  raises concerns for consumers purchasing these tests. For example, we  discovered that Web sites 1, 2, and 3 were in fact selling the same genetic  test developed by the same company and that this company was pressured  by consumer groups in the United Kingdom to stop selling the test in that  country. The company now sells the same type of test in the United States.  In addition, we found evidence suggesting a lack of quality control by the  laboratory actually conducting the DNA analysis for Web sites 1, 2, and 3.  For example, even though all of the genetic information contained in the  test results based on a single source should be identical, we received  disparate results from the tests we purchased from Web site 1. We also  found that the laboratory used by Web site 4 is not approved under CLIA.
Nutrigentic Testing in the United Kingdom: The company that  manufactures the tests used by Web sites 1, 2, and 3 used to sell the same  type of test in the United Kingdom—consumers provided DNA samples  and filled out a lifestyle questionnaire, and the company provided advice  on what consumers should do to improve their health with diet and  lifestyle changes. The Human Genetics Commission, the U.K.’s strategic  advisory body on developments in human genetics, and GeneWatch UK, a  consumer protection group, alleged that the company’s tests were  misleading because no scientific evidence validated their clinical claims.  Other scientists and consumer protection groups also cited numerous  problems with the tests, including that the claims were exaggerated, the  service should not be offered without adequate counseling, and that they  provided advice which differed little from standard guidance on diet and  exercise.
Eventually, the tests were subjected to assessment by a team of three  experts—a clinical geneticist, a scientist leading a program of research in  nutritional genomics, and the chief dietitian of a leading teaching hospital.  They published the findings in a detailed report that concluded that there  was no value in the genetic tests being offered. Subsequently, GeneWatch  U.K. raised these concerns with major retail chains and pharmacies  carrying the tests and urged them to stop selling the tests. By July 2002,  the company was no longer attempting to sell their test directly to the  consumer in the United Kingdom, either over the Internet or through  retailers. In 2003, the company moved its operations from the United  Kingdom to the United States. Despite the findings of the British experts,  the company now sells the same type of test to American consumers.
Contradictory DNA Analysis: The results we received from the tests  we purchased from Web site 1 appear to be contradictory and reflect  inaccurate lab results. Specifically, the results we received from these  tests contained a listing of the genes being analyzed and any “variations”  found in those genes. When we compared the two results we received  based on the DNA from the female, we found that the gene variations  listed were not exactly the same: one result said that the DNA showed a  variation in the “eNOS” gene, but the other result said that there was no  variation in this gene. According to the experts we spoke with, because  the DNA sample was taken from the same individual, any gene variations  should be identical. The experts also stated that a competent laboratory  should reliably be able to detect the presence or absence of a particular  gene variant. Consequently, concerns exist about whether this laboratory  has basic quality control procedures in place to identify and prevent  mistakes.
Lack of CLIA Approval: As noted in the introduction to our testimony,  laboratories performing genetic tests for medical purposes must be  approved under the Clinical Laboratory Improvement Amendments of  1988 (CLIA). In general, CLIA regulations address personnel qualifications,  quality control and assurance, recordkeeping requirements, and also  require laboratories to conduct proficiency testing. All laboratory tests  performed to provide information about an individual’s health must be  conducted by law in approved laboratories. During the course of our work,  when we interviewed a representative from a laboratory conducting tests  for Web site 4, we were told that this lab is not approved under CLIA.

	Conclusion

The current regulatory environment provides only limited oversight to  those developing and marketing new types of genetic tests. Consequently,  companies that sell nutrigenetic tests like the ones we purchased may  mislead consumers by promising results they cannot deliver. Further, the  unproven medical predictions these companies can include in their test  results may needlessly alarm consumers into thinking that they have an  illness or that they need to buy a costly supplement in order to prevent an  illness. Perhaps even more troubling, the test results may falsely assure  consumers that they are healthy when this may not be the case.
With further advances in science, nutrigenetic tests like those we  purchased may in the future be valid, allowing consumers to use DNA- based analysis to make diet and lifestyle changes that will actually prevent  the development of disease. However, as demand for these new tests  continues to rise, it will become increasingly important for consumers to  have reliable information in order to determine which tests are accurate  and useful.
Mr. Chairman and Members of the Committee, this concludes my  statement. I would be pleased to answer any questions that you or other  members of the committee may have at this time.

	Contact

For further information about this testimony, please contact Gregory D.  Kutz at (202) 512-7455 or kutzg@gao.gov. Contact points for our Offices of  Congressional Relations and Public Affairs may be found on the last page  of this testimony.
This is a work of the U.S. government and is not subject to copyright protection in the  United States. It may be reproduced and distributed in its entirety without further  permission from GAO. However, because this work may contain copyrighted images or  other material, permission from the copyright holder may be necessary if you wish to  reproduce this material separately.

Summary:
Why GAO Did This Study

Scientists increasingly believe that most, if not all, diseases have a genetic component. Consequently, genetic testing is becoming an integral part of health care with great potential for future test development and use. Some genetic tests are sold directly to the consumer via the Internet or retail stores, and purport to use genetic information to deliver personalized nutrition and lifestyle guidance. These tests require consumers to self-collect a sample of genetic material, usually from a cheek swab, and then forward the sample to a laboratory for analysis. Companies that market this type of test claim to provide consumers with the information needed to tailor their diet and exercise programs to address their genetically determined health risks. GAO was asked to investigate the "legitimacy" of these claims. This testimony reflects the findings of GAO's investigation of a nonrepresentative selection of genetic tests. Specifically, GAO purchased tests from four Web sites and created "fictitious consumers" by submitting for analysis 12 DNA samples from a female and 2 samples from an unrelated male, and describing this DNA as coming from adults of various ages, weights, and lifestyle descriptions. GAO also consulted with experts in genetics and nutrition.

What GAO Found

The results from all the tests GAO purchased mislead consumers by making predictions that are medically unproven and so ambiguous that they do not provide meaningful information to consumers. Although there are numerous disclaimers indicating that the tests are not intended to diagnose disease, all 14 results predict that the fictitious consumers are at risk for developing a range of conditions, as shown in the figure below. However, although some types of diseases, such as cystic fibrosis, can be definitively diagnosed by looking at certain genes, the experts GAO spoke with said that the medical predictions in the tests results can not be medically proven at this time. Even if the predictions could be medically proven, the way the results are presented renders them meaningless. For example, many people "may" be "at increased risk" for developing heart disease, so such an ambiguous statement could relate to any human that submitted DNA. Results from the tests that GAO purchased from Web sites 1 and 4 further mislead the consumer by recommending costly dietary supplements. The results from the tests from Web site 1 suggested "personalized" supplements costing approximately $1,200 per year. However, after examining the list of ingredients, GAO found that they were substantially the same as typical vitamins and antioxidants that can be found in any grocery store for about $35 per year. Results from the tests from Web site 4 suggested expensive products that claimed to repair damaged DNA. However, the experts GAO spoke with stated that there is no "pill" currently available that has been proven to do so. The experts also told us that, in some circumstances, taking supplements such as those recommended may be harmful. In addition, results from the tests that GAO purchased from Web sites 1, 2, and 3 do not provide recommendations based on a unique genetic profile as promised, but instead provide a number of common sense health recommendations. If the recommendations were truly based on genetic analysis, then the 9 fictitious consumers that GAO created for these sites using the female DNA should have received the same recommendations because their DNA came from the same source. Instead, they received a variety of different recommendations, depending on their fictitious lifestyles. For example, when GAO created lifestyle descriptions stating that the consumers smoked, they received recommendations to stop smoking. In contrast, if GAO said the consumers never smoked, they received recommendations to continue to avoid smoking.