Direct-To-Consumer Genetic Tests: Misleading Test Results Are Further Complicated by Deceptive Marketing and Other Questionable Practices
Published: 2010-07-22T00:00:00

Fast Facts:

Highlights:
section_title: Why GAO Did This Study
paragraphs: In 2006, GAO investigated companies selling direct-to-consumer (DTC) genetic tests and testified that these companies made medically unproven disease predictions. Although new companies have since been touted as being more reputable--Time named one company's test 2008's "invention of the year"--experts remain concerned that the test results mislead consumers. GAO was asked to investigate DTC genetic tests currently on the market and the advertising methods used to sell these tests. GAO purchased 10 tests each from four companies, for $299 to $999 per test. GAO then selected five donors and sent two DNA samples from each donor to each company: one using factual information about the donor and one using fictitious information, such as incorrect age and race or ethnicity. After comparing risk predictions that the donors received for 15 diseases, GAO made undercover calls to the companies seeking health advice. GAO did not conduct a scientific study but instead documented observations that could be made by any consumer. To assess whether the tests provided any medically useful information, GAO consulted with genetics experts. GAO also interviewed representatives from each company. To investigate advertising methods, GAO made undercover contact with 15 DTC companies, including the 4 tested, and asked about supplement sales, test reliability, and privacy policies. GAO again consulted with experts about the veracity of the claims.
section_title: What GAO Found
paragraphs: GAO's fictitious consumers received test results that are misleading and of little or no practical use. For example, GAO's donors often received disease risk predictions that varied across the four companies, indicating that identical DNA samples yield contradictory results. One donor was told that he was at below-average, average, and above-average risk for prostate cancer and hypertension. GAO's donors also received DNA-based disease predictions that conflicted with their actual medical conditions--one donor who had a pacemaker implanted 13 years ago to treat an irregular heartbeat was told that he was at decreased risk for developing such a condition. Also, none of the companies could provide GAO's fictitious African American and Asian donors with complete test results, but did not explicitly disclose this limitation prior to purchase. Further, follow-up consultations offered by three of the companies failed to provide the expert advice that the companies promised. In post-test interviews with GAO, each of the companies claimed that its results were more accurate than the others'. Although the experts GAO spoke with believe that these tests show promise for the future, they agreed that consumers should not rely on any of the results at this time. As one expert said, "the fact that different companies, using the same samples, predict different directions of risk is telling and is important. It shows that we are nowhere near really being able to interpret [such tests]." GAO also found 10 egregious examples of deceptive marketing, including claims made by four companies that a consumer's DNA could be used to create personalized supplement to cure diseases. Two of these companies further stated that their supplements could "repair damaged DNA" or cure disease, even though experts confirmed there is no scientific basis for such claims. One company representative even fraudulently used endorsements from high-profile athletes to convince GAO's fictitious consumer to purchase such supplements. Two other companies asserted that they could predict in which sports children would excel based on DNA analysis, claims that an expert characterized as "complete garbage." Further, two companies told GAO's fictitious consumer that she could secretly test her fiance's DNA to "surprise" him with test results--though this practice is restricted in 33 states. Perhaps most disturbing, one company told a donor that an above average risk prediction for breast cancer meant she was "in the high risk of pretty much getting" the disease, a statement that experts found to be "horrifying" because it implies the test is diagnostic. To hear clips of undercover contacts, see http://www.gao.gov/products/GAO-10-847T . GAO has referred all the companies it investigated to the Food and Drug Administration and Federal Trade Commission for appropriate action.

section_title: Letter
paragraphs: Thank you for the opportunity to discuss our follow-up investigation of  genetic tests sold directly to consumers via the Internet. Using kits at  home, consumers simply swab their cheeks or collect saliva and send  these DNA samples back to a company for analysis and a report of the  results. While the importance of genetics in individual medical care shows  promise for the future, the usefulness of the tests these companies offer is  much debated.
In 2006, we investigated four companies selling direct-to-consumer (DTC)  genetic tests that purported to use DNA to deliver personalized nutrition  and lifestyle guidance. We testified before the Senate Special Committee  on Aging that these companies misled consumers by providing test results  that were both medically unproven and so ambiguous as to be  meaningless. For example, one of the results we received vaguely  indicated that our DNA donor was at “significant risk of developing the  age related conditions associated with elevated levels of DNA damage.”  Another stated that our donor had “faulty methylation patterns” that may  lead to “an above-average risk for developing cardiac aging, brain aging,  and cancer.” And though some of the companies claimed that they would  provide lifestyle advice based on a consumer’s DNA, we found that they  simply provided generally accepted health guidance linked to background  information submitted by our donors on test questionnaires. Further, two  of the companies we tested recommended costly dietary supplements that  were in reality nothing more than inexpensive multivitamins available at  any drug store.
As a result of these findings, in 2006 the Centers for Disease Control and  Prevention (CDC) in conjunction with the Food and Drug Administration  (FDA) and the Federal Trade Commission (FTC) issued alerts warning  consumers to be wary of claims made by these types of DTC genetic  testing companies. In October 2008, FTC again warned consumers that “no  standards govern the reliability or quality of at-home genetic tests. The  FDA and Centers for Disease Control and Prevention recommend that  genetic tests be done in a specialized laboratory and that a doctor or  counselor with specialized training interpret the results.”
Despite these warnings, several new DTC genetic test companies have  been touted as being more reputable and medically accurate than those we  tested previously; in 2008, Time magazine named one new company’s test  the “invention of the year.” More recently, another company’s plan to sell  tests at retail pharmacies has drawn significant attention from the media  and scientists. However, given the scientific evidence currently available,  many experts remain concerned that the medical predictions contained in  the results mislead consumers. In this context, you requested that we  proactively test DTC genetic products currently on the market and the  advertising methods used to sell these products to consumers.
To investigate DTC genetic products currently on the market, we  purchased tests, for $299 to $999, from a nonrepresentative selection of  four of the dozens of genetic testing companies selling kits to consumers  on the Internet. Using online search terms likely to be used by actual  consumers, we identified and selected these companies because they were  frequently cited as being credible by the media and in scientific  publications and because they all provided consumers with risk  predictions, accessible through secure Web sites, for a range of diseases  and conditions. Although their tests are not identical, all four companies’  Web sites contain a variation of the statement that their tests help  consumers and their physicians detect disease risks early so that they can  take preventive steps to reduce these risks. They also note that their tests  are not intended to provide medical advice or to treat or diagnose disease.  We purchased 10 tests from each company (40 tests in total) to compare  risk predictions for a variety of serious illnesses and determine whether  the companies were consistent in their predictions. We selected for  comparison 15 common diseases and conditions that were tested by at  least three of the four companies: Alzheimer’s disease, atrial fibrillation (a  type of irregular heart beat), breast cancer, celiac disease (a chronic  digestive problem caused by an inability to process gluten), colon cancer,  heart attack, hypertension, leukemia, multiple sclerosis, obesity, prostate  cancer, restless leg syndrome, rheumatoid arthritis, type 1 diabetes, and  type 2 diabetes.
As shown in table 1, we then selected five DNA donors and created two  profiles for each donor, one using factual information about the donor and  one using fictitious information, including age, race or ethnicity, and  medical history.
For each donor, we sent two DNA samples (saliva or a cheek swab) to  each company—one sample using the factual profile and one using the  fictitious—to determine whether altering the donors’ backgrounds had any  effect on the companies’ DNA analysis. Three of the four companies asked  for age and race or ethnicity prior to purchase; only one asked for medical  history information. We also made undercover telephone calls to the  companies seeking additional medical advice for both our factual and  fictitious donors. We then documented our observations on the test results  and advice we received. It is important to emphasize that we did not  conduct a rigorous scientific study; our observations are those that could  be made by any consumer. To assess whether we received any  scientifically based or medically useful information, we consulted with  external experts in the field of genetics and incorporated their comments  as appropriate. Our primary consultant was Dr. James Evans, the Director  of Adult Genetics Services at the University of North Carolina and the  Editor-in-Chief of Genetics in Medicine, the official journal of the  American College of Medical Genetics. After we completed our proactive  testing, we visited each company and interviewed representatives who  were willing to speak with us. We did not notify the companies prior to  these visits and did not specifically disclose the results of our undercover  testing or reveal the identities of our donors or the other companies that  we tested.
To investigate the advertising methods used to sell DTC genetic products,  we reviewed the Web sites of a nonrepresentative selection of 15 genetic  testing companies, including the 4 from which we purchased tests. We  identified the companies by again using online search terms likely to be  used by actual consumers. Posing as fictitious consumers, we made  contact with these companies, both by phone and in person, seeking  additional information about genetic testing. During these contacts, we  asked a series of questions about the reliability and usefulness of test  results, privacy policies regarding consumers’ genetic information, and the  sale of supplements or other products. To assess the accuracy and  reasonableness of the marketing claims, we again consulted with external  experts in the field of genetics. We also purchased supplements sold by  one of the companies.
Our findings are limited to the individual DTC genetic test companies we  investigated and cannot be projected to any other companies. We  performed our work from June 2009 to June 2010 in accordance with  standards prescribed by the Council of Inspectors General for Integrity  and Efficiency.
subsections: section_title: Test Results Are Misleading and of Little Use to Consumers
paragraphs: The test results we received are misleading and of little or no practical use  to consumers. Comparing results for 15 diseases, we made the following  observations: (1) each donor’s factual profile received disease risk  predictions that varied across all four companies, indicating that identical  DNA can yield contradictory results depending solely on the company it  was sent to for analysis; (2) these risk predictions often conflicted with the  donors’ factual illnesses and family medical histories; (3) none of the  companies could provide the donors who submitted fictitious African  American and Asian profiles with complete test results for their ethnicity  but did not explicitly disclose this limitation prior to purchase; (4) one  company provided donors with reports that showed conflicting  predictions for the same DNA and profile, but did not explain how to  interpret these different results; and (5) follow-up consultations offered by  three of the companies provided only general information and not the  expert advice the companies promised to provide. The experts we spoke  with agreed that the companies’ claims and test results are both  ambiguous and misleading. Further, they felt that consumers who are  concerned about their health should consult directly with their physicians  instead of purchasing these kinds of DTC genetic tests. See appendix I for  comprehensive information on the test results we received for each donor.
Different companies often provide different results for identical  DNA: Each donor received risk predictions for the 15 diseases that varied  from company to company, demonstrating that identical DNA samples  produced contradictory results. Specifically, in reviewing the test results  across all four companies for the donors’ factual profiles, we found that  Donor 1 had contradictory results for 11 diseases, Donor 2 for 9 diseases,  Donor 3 for 12 diseases, Donor 4 for 10 diseases, and Donor 5 for 9  diseases. Specific examples of these contradictory predictions are listed  below; note that some of the diseases we compared were only tested by  three of the four companies. To facilitate comparison among companies,  we chose to use the terms “below average,” “average,” and “above  average” to describe the risk predictions we received; the exact language  used by each of the companies is reprinted in appendix I.
For Donor 1, Company 1 predicted an above-average risk of developing  leukemia, while Company 2 predicted a below-average risk, and  Company 3 reported that she had an average risk for developing the  disease. In addition, Companies 2 and 4 told the donor that her risk for  contracting breast cancer was above average, but Companies 1 and 3  found her only to be at average risk. See figure 1.
Companies 1 and 2 claimed that Donor 2 had an above-average risk of  developing type 1 diabetes, while Company 3 reported that she was at  below-average risk for the disease. Further, Company 2 predicted she  was at above-average risk for restless leg syndrome, Company 1  claimed she was at below-average risk for the condition, and Company  4 found that she was at average risk. See figure 2.
Company 4 claimed that Donor 3’s risk of developing prostate cancer  was above-average, Company 3 found that he was at below-average  risk, and Companies 1 and 2 found that he was at average risk. For  hypertension, Company 3 found that he had an above-average risk of  developing the condition, Company 2 found that he was at below- average risk, and Company 1 found he was at average risk. See figure 3.
Donor 4 was told by Companies 1 and 4 that he was at above-average  risk for celiac disease, but Company 2 reported that he was only at  average risk. In addition, Companies 1 and 4 found that he was at  below-average risk for multiple sclerosis, while Companies 2 and 3  found that he was at average risk. See figure 4.
For Donor 5, Companies 2 and 3 reported an above-average risk for  heart attacks, and Companies 1 and 4 identified only an average risk.  Company 2 found him to be at below-average risk for atrial fibrillation,  while Companies 1, 3, and 4 predicted an average risk. See figure 5.
These contradictions can be attributed in part to the fact that the  companies analyzed different genetic “markers” in assessing the donors’  risk for disease. As described in a recent article published in the science  journal Nature, researchers determine which markers occur more  frequently in patients with a specific disease by conducting “genome-wide  association studies, which survey hundreds of thousands or millions of  markers across control and disease populations.” DTC companies use  these publicly available studies to decide which markers to include in their  analyses, but none of the companies we investigated used the exact same  markers in its tests. For example, Company 1 looked at 5 risk markers for  prostate cancer, while Company 4 looked at 18 risk markers.
In our post-test interviews, representatives from all four companies  acknowledged that, in general, DTC genetic test companies test for  different risk markers and that this could result in companies having  different results for identical DNA. When we asked the representatives  whether they thought that any DTC genetic test companies currently on  the market were more accurate than others, all claimed that their own  companies’ tests were better than those offered by their competitors. For  example, Company 1 said that it offers consumers more information than  other companies because its results are based on both preliminary  research reports as well as clinical data. Company 2 claimed that other  companies do not test for as many markers as it does and that while none  of the companies are “wrong,” using more markers is “probably more  accurate.” Company 2 also stated that disparate test results from different  companies are “caused, in part, due to a lack of guidance from the federal  government, CDC in particular.” Company 3 similarly claimed to test for  more markers than other companies and stated that its test is “the best.”  Company 3 also said that there is a movement within the DTC genetic test  industry to standardize test results, but that such standardization is a work  in progress. Finally, Company 4 claimed that it uses stricter criteria to  select risk markers than other companies. Company 4 also told us that it  has been involved in a collaborative effort with other DTC genetic test  companies to develop standard sets of markers, but stated that there are  many unresolved differences in philosophy and approach.
When we asked genetics experts if any of the companies’ markers and  disease predictions were actually more accurate than the others, they told  us that there are too many uncertainties and ambiguities in this type of  testing to rely on any of the results. Unlike well-established genetic testing  for diseases like cystic fibrosis, the experts feel that these tests are  “promising for research, but the application is premature.” In other words,  “each company’s results could be internally consistent, but not tell the full  story…. the science of risk prediction based on genetic markers  is not fully worked out, and that the limitations inherent in this sort of risk  prediction have not been adequately disclosed.” As one expert further  noted, “the fact that different companies, using the same samples, predict  different…directions of risk is telling and is important. It shows that we  are nowhere near really being able to interpret .” We also asked  our experts if any of our donors should be concerned if the companies all  agreed on a risk prediction; for example, all four companies told Donor 1  she was at increased risk for Alzheimer’s disease. The experts told us this  consensus means very little because there are so many demographic,  environmental, and lifestyle factors that contribute to the occurrence of  the types of diseases tested by the four companies.
Risk predictions sometimes conflict with diagnosed medical  conditions or family history: Four of our five donors received test  results that conflicted with their factual medical conditions and family  histories. When we asked the experts about these discrepancies, they told  us that the results from these DTC tests are not conclusive because the  tests are not diagnostic, as is noted on all of the companies Web sites.  Because risks are probabilistic by definition, it is very likely that  consumers will receive results from these companies that do not comport  with their knowledge of their own medical histories. However, one expert  noted that the discrepancies between actual health and the predications  made by these companies also serve to illustrate the lack of robustness of  such predictive tests. Moreover, experts fear that consumers may  misinterpret the test results because they do not understand such  distinctions. For example, a consumer with a strong family history of heart  disease may be falsely reassured by below-average risk predictions related  to heart attacks and consequently make poor health choices. In fact, one  expert told us that “family history is still by far the most consistent risk  factor for common chronic conditions. The presence of family history  increases the risk of disease regardless of genetic variants and the current  genetic variants do not explain the familial clustering of diseases.” Another  expert stated that “the most accurate way for these companies to predict  disease risks would be for them to charge consumers $500 for DNA and  family medical history information, throw out the DNA, and then make  predictions based solely on the family history information.” Examples we  identified include the following:    Donor 2 has a family history of heart disease yet all four companies  predicted that she was at average risk for having a heart attack. Donor  2 also has a family history of type 1 diabetes, but Company 3 reported  that she was at below-average risk for the disease.
Donor 3 has a family history of heart disease, but Companies 1, 2, and 3  reported that he was at average risk for having a heart attack and  Company 4 reported he was at below-average risk.
Donor 4 had a pacemaker implanted 13 years ago to treat atrial  fibrillation. However, Company 1 and 2 found that he was at below- average risk for developing atrial fibrillation, and Companies 3 and 4  claimed that he was at average risk. Donor 4 is also a colon cancer  survivor, but Company 2 reported that he was at average risk of  developing the disease.
Donor 5 has Type 2 diabetes, but Companies 1, 2, and 3 indicated that  he had an average risk of developing the disease. Donor 5 is also  overweight, but all four companies found him to be at average risk for  obesity.
In our post-test interviews, representatives from all four companies  reiterated that their tests are not diagnostic, but they all believe that their  tests provide consumers and their doctors with useful information.  Specifically, Company 1 stressed that its tests empower consumers to  recognize their risk of developing a health-related condition and then take  the information to a doctor for further discussion. Company 2 emphasized  that its tests provide consumers with the “incentive” to be “aggressive”  about their health, while Company 3 said its goal is to “empower  individuals with information to help them make necessary lifestyle  changes.” Similarly, Company 4 stated that its risk predictions are a useful  first step in that they offer “something for the consumer and their  physician to consider in deciding whether or when to proceed with more  invasive or costly tests.” However, experts we spoke with cautioned that  most doctors are not adequately prepared to use DTC genetic test  information to treat patients. In addition, experts noted that there is  currently no data or other evidence to suggest that consumers have taken  steps to improve their health as a result of taking DTC genetic tests. As  one expert noted, “even if such information is found to be an especially  effective motivator of behavioral change, we’re in trouble…because for  everyone you find who is at increased disease risk, you’ll find another who  is at decreased risk. So if this information is actually powerful in  motivating behavior then it will also motivate undesirable behaviors in  those found to be at low risk.”
Fictitious profiles did not receive complete test results: Many of  these studies the companies use to make risk predictions apply only to  those of European ancestry. Consequently, our fictitious Asian and African  American donors did not always receive risk predictions that were  applicable to their race or ethnicity, although the companies either did not  disclose these limitations prior to purchase or placed them in lengthy  consent forms. The experts we spoke to agreed that these limitations  should be “clearly disclosed upfront” and suggested that our fictitious  donors try to get their money back. Companies 2 and 3 did give us a  refund, but Company 1 refused and company 4 never responded to our  request. In our post-test interviews, company representatives  acknowledged that race and ethnicity do affect disease risk predictions,  but that most genetic research has only been done on persons of European  ancestry and therefore such individuals receive more accurate results.
Representatives from Company 1 also said that the company can provide  only current information and that one of its primary goals is to expand  upon this research by collecting DNA from as many persons as possible.  Further, Companies 2 and 4 stated that they believe they communicate this  limitation to consumers on their Web sites or in their test result reports,  though our observations do not support this claim. Examples of the  discrepancies we identified include the following:    Company 1 provided Donor 1’s fictitious African American profile with  test results based on her race for just 1 of the 15 diseases we  compared: type 2 diabetes. For the remaining diseases, Company 1  provided a risk prediction but included a disclaimer, such as “this  result applies to people of European ancestry. We cannot yet compute  more precise odds” for those of African American descent. However,  Company 1 did not explicitly disclose the fact that African Americans  would receive incomplete results prior to purchase, even though it did  ask consumers to specify their ethnicity as part of the purchase  process. The company only vaguely refers to any testing limitations on  the first page of its consent form, which states that “gene/disease  associations are typically based on ethnicity and the associations may  not have been studied in many world populations and may not apply in  the same or similar ways across populations.”
Company 2 claimed on its Web site that it had “better coverage [of  genes] associated with the most important diseases for all ethnicities”  than its competitors. However, the company provided Donor 2’s  fictitious Asian profile with test results for just 6 of the 15 diseases we  compared. The company did not explain these discrepancies and did  not disclose the testing limitations prior to purchase, even though it  requested that consumers specify their race or ethnicity as part of the  purchase process. The only references to these limitations are made in  the “frequently asked questions” section and on page six of an eight- page service agreement, where the company notes that “the genetic  result reported may in some cases only be applicable to a certain group  of people, e.g. based on gender, ethnicity, lifestyle, family history etc.  that you may or may not belong to.”
Company 3 sent Donor 3’s fictitious African American profile results  for just 3 of the 15 conditions we compared. The company did not  disclose this limitation prior to purchase even though it requested that  consumers specify their race or ethnicity during the purchase process.
For 10 of the 15 conditions we compared, Company 4 sent all of our  donors results that applied only to individuals of European ancestry.
However, for restless leg syndrome, the predictions were accompanied  by the following statement: “most conditions have only been studied in  people of European ancestry. But this condition is a little different.”  For atrial fibrillation, colon cancer, type 2 diabetes, and heart attack,  the predictions were accompanied by the following statement “most  conditions have only been studied in people of European ancestry, but  this one also has been studied in other groups.” The company provided  no additional explanation as to how these differences applied to our  donors. The only other reference to testing limitations is made on page  five of a nine- page consent form, where the company notes that “most  of the published studies in this area of genetic research have focused  on people of Western European descent. We do not know if, or to what  extent, these results apply to people of other backgrounds.”
Company 1 provided conflicting predictions for the same DNA  within the same test result report: Company 1 provided our donors  with conflicting risk predictions for atrial fibrillation, celiac disease, and  obesity. In reviewing the test results for just the factual profiles, we  observed the following:    Donor 1 received a “clinical report” predicting that she had an average  risk for developing atrial fibrillation and a “research report” stating that  she was at below-average risk for the disease.
Donor 2 received a “clinical report” stating that she was at below- average risk of developing celiac disease and a “research report”  claiming that she was at above-average risk.
Donor 4 received one “research report” claiming that was at above- average risk for obesity and another “research report” stated that he  was at average risk.
According to information in the test results, the company distinguishes  between clinical and research reports by noting that predictions based on  the clinical reports are for “conditions and traits for which there are  genetic associations supported by multiple, large, peer-reviewed studies.”  In contrast, the research reports provide information “that has not yet  gained enough scientific consensus to be included in our clinical reports.”  However, there is no additional information explaining how consumers  should interpret the results. Because the company does not offer any  follow-up consultations on test results, our fictitious donors could not  request clarification. When we interviewed representatives from Company  1 about this issue after our testing, they simply reiterated the information  contained in the results, describing research reports as being peer  reviewed and “almost clinical” but noting that clinical reports are “four  star” in that they are widely accepted according to scientific standards.
Follow-up consultations provide only general information: As part  of the test results, all four companies provide generally accepted health  information related to the diseases that were tested, including a  description of symptoms, treatments, and methods of prevention. This  information is not targeted to specific consumers; all of our donors’ results  contained the same descriptions of treatments and methods of prevention,  regardless of the risk predictions they received. For example, all the  companies note that stopping smoking and increasing exercise are ways to  reduce the risk for heart attacks. Representatives for Company 4 also  encouraged consumers to make dietary changes such as adopting a  Mediterranean diet or eating curry to prevent Alzheimer’s disease, claims  that cannot be proven, according to our experts. To supplement this  information, Companies 2, 3, and 4 offer follow-up consultations.  Only  Company 4 has U.S. board-certified genetic counselors on staff for this  purpose, but all three companies claimed on their Web sites that their  representatives would help consumers understand the implications of  their disease risk predictions. However, for the most part, these  representatives provided our donors with little guidance beyond the  information contained in the test reports; at times, it seemed as though  they were simply reading information directly from these reports. When  our donors asked for more information on alarming results that indicated  that they were at increased risk for serious diseases like colon cancer and  Alzheimer’s disease, representatives for Companies 2 and 3 pointed out  symptoms to be aware of, but acknowledged that there is very little the  donors could do to mitigate these risks. Representatives for Companies 2  and 4 also conceded that the donors’ own doctors would probably not  know what to do with the test results, a fact that our experts repeatedly  noted. Examples include the following:    Company 2 offers follow up consultations with “experts” to help  consumers “interpret their results.” In our post-test interviews, the  company further noted that it provides the option of speaking with  genetic counselors or a medical geneticist, but that consumers rarely  exercise this option. Because the company is located outside the  country, we were unable to determine whether all of its counselors are  board certified in the United States; however, one counselor told us  that he was not certified. During one of our undercover follow-up calls,  Donor 4 asked what to do about his test results in general and what  lifestyle changes he should make as a result. The representative told  Donor 4 that he could not tell him what to do because he was not a  physician and that the donor should take his results to a physician if he  wanted advice on making any changes. When Donor 4 expressed  concern that his doctor may not know what to do with the test results,  the expert told him “True, not all physicians are familiar with these  tests, so if you were to take it into a physician’s office, they may not be  familiar with it.” Furthermore, when discussing Donor 3’s increased  risk for colon cancer, one of Company 2’s experts told our donor that  while he should become familiar with the symptoms such as blood in  the stool, there was not much else he could do because “colon cancer  is quite silent.”
Company 3 states that “because of the complexity and inherent  uncertainties in genetic information, we recommend that you discuss  the results of your genetic test with a genetic professional….Our on- staff Genetic Counselors are available any time to review your…results  with you.” In our post-test interviews, the company further claimed that  its genetic counselors are certified by the American Board of Genetic  Counseling and that the counselors review family history and provide  consumers with additional information that is not in the test results.  However, our donors spoke to the same person, who admitted that she  was not a board-certified genetic counselor. She told us that she had  completed her master’s in genetic counseling and just had to take her  test to become licensed. Donor 5 called Company 3 because he was  extremely concerned about the company’s prediction that he had  genetic markers that are highly correlated with Alzheimer’s disease.  Instead of providing addition information, the counselor simply  acknowledged that “there is no cure or prevention strategy with  Alzheimer’s.”
Company 4 notes that its “genetic counselors are healthcare  professionals who are trained to help you understand what genetic  information means for you and for your family.” In our post-test  interview, the company stressed that its counselors explain the results,  discuss beneficial next steps, and ensure that consumers and their  physicians understand the meaning and limitations of the tests.  However, when Donor 2 asked what she could do about her test  results, the counselor told her that she could take the results to a  physician. When Donor 2 pressed the counselor about whether a  doctor would know what to do, the counselor responded “With this  stuff? Probably not, no, I think they’re learning just like everyone else.”
section_title: “Personalized” Supplements, Bogus Endorsements, and Scientifically Invalid Claims among Deceptive Marketing Practices
paragraphs: Posing as consumers seeking information about genetic testing on the  Internet and through phone calls and face-to-face meetings, we found that  10 of the 15 companies we investigated engaged in some form of  fraudulent, deceptive, or otherwise questionable marketing practices. For  example, at least four companies claimed that a consumer’s DNA could be  used to create personalized supplements to cure diseases. One company’s  representative fraudulently used endorsements from high-profile athletes  to try to convince our undercover investigators to purchase its  supplements. He also told our fictitious consumers that they could earn  commission checks and receive free supplements if they could convince  their friends to purchase the products. More detailed information on our  experiences with this company follows table 2. Another flagrant example  of deceptive marketing involved several companies’ claims that they could  predict which sports children would excel in based on DNA analysis. We  also found examples of highly misleading representations about the  reliability of the tests and the ability of health care practitioners to use the  results to help treat patients. In addition, two companies are placing  consumers’ privacy at risk by condoning the potentially illegal practice of  testing DNA without prior consent. Selected audio clips from our  undercover calls and meetings are available at  http://www.gao.gov/products/GAO-10-847T. Table 2 contains a selection of  representations made by these companies. Note that companies 1 through  4 are the same companies we proactively tested, as discussed earlier in  this testimony.
Company 5: On its Web site, Company 5 claimed that it would use a  consumer’s DNA to “create a personalized formula for nutritional  supplements and skin repair serum with 100% active ingredients  individually selected to enhance or diminish the biological processes  causing you to age.” To investigate these claims, we posed as a fictitious  consumer interested in purchasing the product and met in person with a  company representative.
During our initial meeting, the representative not only fraudulently  suggested that Michael Phelps and representatives for Lance Armstrong  endorsed the product, he also implied that the company’s supplements  could cure high cholesterol and arthritis, claims that one of our experts  characterized as “absolute lies.” Moreover, the FDA and the National  Institutes of Health have clearly stated that no dietary supplement can  treat, prevent, or cure any disease. As part of the company’s promotional  materials we found that the company’s DNA assessment cost $225 and that  the customized supplements cost about $145 per month. However, if our  fictitious consumer immediately purchased a 3-month supply of  supplements, she would be able to get the DNA test for free. The  representative also told her that she could become a company affiliate and  earn commission checks and free products by recruiting new affiliates.  She, along with another fictitious consumer, subsequently registered as  company affiliates, and ultimately received commission checks totaling  more than $250. In addition to sending us the test kits, the company sent  us packages of starter supplements in a bag that was not labeled with an  ingredient list.
In an attempt to compare the test results from Company 5 with the results  we received from Companies 1 through 4, we again used the same five  donors and replicated the same methodology: submitting DNA samples  using one factual profile and one fictitious profile. However, when we  received the results, we found that Company 5 did not provide a set of risk  predictions for specific diseases, making it impossible for us to compare  the results against those we received from the other four companies.  Instead, the company sent our donors a list of gene variants tested, a  description of bodily functions affected by those variants, and a  determination of whether the donors needed additional “nutritional  support” to maintain health. In comparing the results, we found that each  donor appeared to have a unique assessment and that using the fictitious  profile did not seem to affect the results. However, the results were so  ambiguous and confusing that they did not provide meaningful  information. For example:    Donor 1 was told that she needed “maximum support” to maintain the  “VDR gene” which accounts for “75% of the entire genetic influence on  bone density” among healthy people. Maximum support means that the  “protein molecule expressing a specific enzyme, hormone, cytokine or  structural protein is functioning minimally” and maximum nutritional  support is needed to keep the body functioning optimally.
Donor 5 was told that he needed “added support” to maintain the  “EPHX” gene, which “detoxifies” epoxides or “highly reactive foreign  chemicals present in cigarette smoke, car exhaust, charcoal-grilled  meat, smoke from wood burning, pesticides, and alcohol.” “Added  support” means that the gene is functioning less than optimally and  therefore needs added nutritional support.
According to one of the experts we spoke with, these claims are simply  “nonsensical” and “while it is true that one can find alleles of many of  these genes that don’t have the same activity as ‘normal,’ we have no idea  of (a) whether that reduced activity has any real health implications and  (b) what one would reasonably do about it if so.”
Along with the test results, the company sent supplements that it claimed  were “blended” based on our donors’ DNA assessments. The supplements  arrived in the same type of unlabeled bag as the starter supplements. This  time, the ingredients were printed inside the test result booklet sent to  each donor and included substances such as raspberry juice powder,  green tea extract, and garlic powder. The recommended daily dose is 10  supplements per day. Based on a review of all the ingredient lists, our five  donors appeared to get supplements with different combinations of  substances. However, we did not test the supplements to verify their  contents. Moreover, an expert we spoke with told us that there is no  scientific basis for claiming that supplements can be customized to DNA.
In post-test interviews, Company 5 told us that this company differs from  others in that it does not attempt to diagnose or calculate a predisposition  to any disease. Instead, the company said that it focuses on the overall  health and well-being of their clients by creating personalized nutritional  supplements based on their client’s specific DNA. When we asked about  the ingredients in the supplements, the company told us that all  supplements have a base formula of ingredients that their scientists have  determined to be “beneficial for everyone.” Additional nutrients are then  added to the base formula based on deficiencies identified by the  company’s DNA test. When we asked about the endorsements, we were  told that several celebrities and professional athletes use the company’s  products, but that many of these high-profile clients do not want to  disclose this affiliation.
section_title: Corrective Action Briefings
paragraphs: We briefed FDA, the National Institutes of Health, and FTC on our findings  on May 25, 2010; June 7, 2010; and June 17, 2010, respectively. In addition,  we have referred all the companies we investigated to FDA and FTC for  appropriate action.
Mr. Chairman, 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.
section_title: Contacts and Acknowledgments
paragraphs: For additional information about this testimony, please contact Gregory D.  Kutz at (202) 512-6722 or kutzg@gao.gov. Contact points for our Offices of  Congressional Relations and Public Affairs may be found on the last page  of this statement. The following individuals made key contributions to this  testimony: Jennifer Costello and Andrew O’Connell, Assistant Directors;  Eric Eskew; Grant Fleming; Christine Hodakievic; Barbara Lewis; Vicki  McClure; Ramon Rodriguez; Anthony Salvemini; Barry Shillito; Tim  Walker; John Wilbur; and Emily Wold.
section_title: Appendix 1: Test Results by Donor
paragraphs: This appendix provides (1) a description of both the factual and fictitious  profiles used by each donor and (2) tables documenting the risk  predictions we received from all four companies for the 15 diseases we  compared.
To the extent possible, we have used in the risk prediction language  directly from the test results. However, Company 2 did not use terms like  “average” or “below average” to describe risk. Instead the company used  charts showing each consumer’s risk level as compared to others with the  consumer’s gender and ethnicity or as compared to those of European  ancestry. The results were color coded, with green to light green appearing  to correspond to a below-average risk level, yellow corresponding to an  average risk level, and orange and red corresponding to an above-average  risk level. To facilitate comparison, we chose to use these corresponding  terms to describe the results, as shown in the table. In addition, Company  1 used two different types of reports in its test results: clinical and  research. According to the company, the clinical reports contain  “information about conditions and traits for which there are genetic  associations supported by multiple, large, peer-reviewed studies.”  Research reports contain “information from research that has not yet  gained enough scientific consensus to be included in our clinical reports.”  Where applicable, we noted when a risk prediction was derived from a  research report; all the other predictions were derived from the clinical  reports.
Donor 1: Donor 1 is a 37-year old Caucasian female, who eats a balanced  diet and exercises regularly. She has elevated cholesterol and arthritis in  her back. In addition, she has a strong family history of colon cancer and a  grandparent who was diagnosed with dementia. In Donor 1’s fictitious  profile, she is a 68-year old, African American female, who is overweight  and rarely exercises. She has type 2 diabetes, hypertension, and asthma,  but has no family history of colon cancer or dementia.
Donor 2: Donor 2 is a 41-year-old Caucasian female. She is in good health;  however she has a family history of breast cancer, type 1 diabetes, and  heart disease. In Donor 2’s fictitious profile, she is a 19-year-old Asian  female who smokes, drinks and uses recreational drugs. She suffers from  heart arrhythmias and an elevated resting heart rate, but has no family  history of breast cancer or diabetes.
Donor 3: Donor 3 is a 48-year-old Caucasian male who has never smoked  and rarely drinks. The donor has asthma as well as a family history of  heart disease. In Donor 3’s fictitious profile, he is a 69-year-old African  American male who is overweight, smokes, and is in somewhat poor  health. He has a family history of bone and lung cancer, but no history of  asthma or heart disease.
Donor 4: Donor 4 is a 61-year-old Caucasian male who smokes. The donor  has elevated cholesterol, has an elevated resting heart rate, and has had  colon cancer. Thirteen years ago, the donor had a pacemaker implanted to  treat atrial fibrillation. In Donor 4’s fictitious profile, he is a 53-year-old  Caucasian male who has never smoked. He has hypertension and prostate  cancer but has no family history of colon cancer or atrial fibrillation.
Donor 5: Donor 5 is a 63-year-old Caucasian male who eats a balanced  diet and exercises. He has elevated cholesterol and blood sugar. The donor  suffers from type 2diabetes and is obese. He also has a family history of  Alzheimer’s disease. In Donor 5’s fictitious profile, he is a 29-year-old  Hispanic male who chews tobacco and suffers from asthma. However, he  has no family history of diabetes or Alzheimer’s disease.