New Genetics and Society Vol. 29, No.

2, June 2010, 167– 186

Direct to consumer genetic testing: insights from an internet scan
Leonhard Hennena∗ , Arnold Sautera and Els Van Den Cruyceb
Institute for Technology Assessment and Systems Analysis, Karlsruhe Institute of Technology, Karlsruhe, Germany; bInstitute Society and Technology, Flemish Parliament, Brussels, Belgium A survey of 38 internet platforms of companies offering genetic testing services direct to consumers was carried out in summer 2008. The internet survey supported the notion held by many experts and discussed by policy advisory bodies that (1) many direct-to-consumer genetic testing (DCGT) offers do not meet a minimum set of quality criteria that can be regarded to be necessary for ensuring adequate information and protection of customers against misleading interpretation of the need for as well as the possible consequences of genetic testing; (2) most DCGT offers fail to provide proper information on the scientific evidence behind genetic testing services offered to customers (clinical validity and utility); (3) many of the companies offering genetic testing services via the internet do not include genetic counseling at all in their services. Only a few urge customers to involve an expert before purchasing a gene test, and “counseling” in most cases only is provided as written information via mail or via web-log. Keywords: testing; genetic counseling; consumer protection; public health genomics

Introduction When genetic testing first entered medical practice during the mid-1980s, it was restricted to a few inherited diseases, such as cystic fibrosis. Genetic testing and counseling were only offered by experts working at university hospitals and institutes and by a limited number of doctors who specialized in human genetics. The limited number of persons seeking genetic testing and counseling, the quite complex and expensive technical procedure of testing as well as the limited number of well-educated experts who can offer genetic testing and counseling are all factors that have contained the problematic potential of genetic testing. Many of the negative expectations connected with genetic testing were based on the assumption of an uncontrolled growth of genetic testing for a great number

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ISSN 1463-6778 print/ISSN 1469-9915 online # 2010 Taylor & Francis DOI: 10.1080/14636778.2010.484232

168 L. Hennen et al. of common diseases, which might open the door for misuse and clinically nonindicated applications of testing (Borry et al. 2007). Apart from the limited number of tests available, the fact that a small group of medical practitioners and genetic counselors has controlled the practice of testing has been regarded as guaranteeing a knowledgeable, cautious and responsible application of genetic testing, which contrasted with the negative scenarios of its widespread and clinically doubtful use (HGC 2003). In recent years, however, some of the barriers to a growth of genetic testing beyond the “protected” realm of genetic counseling carried out in hospitals for a restricted number of persons who might be carriers of rare inherited genetic diseases have vanished or are losing strength. New technological options are available that make it both technically easier and cheaper for a genetic test to be carried out. Connected with the lowering of the technical barriers to genetic testing is a tendency for new (private) suppliers to enter the market. And last but not least, genetic testing is being offered not only for some rare Mendelian diseases but increasing for susceptibilities to common diseases such as cancer, diabetes or cardiovascular diseases, indicating an above-average risk of a person developing a disease. However, doubtful the clinical validity and usefulness of these tests may be, such use has the potential of making genetic testing a part of everyday health care, as for instance is shown by ongoing discussions about “public health genetics” (see e.g. the European Public Health Genomics Network, A related phenomenon has been the transition to a new “business model” or “practical setting” for genetic testing since the late 1990s, namely genetic testing and counseling services offered directly to consumers. Some regard this way of bypassing the medical or health care setting (with specialized doctors and their clients) that previously controlled access to these services as providing free access to genetic testing, letting consumers decide on their own whether to make use of these testing options. Others consider direct-to-consumer genetic testing (DCGT) to be a possibly dangerous marketing ploy that will lead to genetic testing that is uncontrolled, scientifically unjustified, qualitatively doubtful and often intentionally misleading (GAO 2006, HGC 2007, Janssens et al. 2008). In contrast to the established practice, medical benefits and ethical and social problems of genetic testing, which have been the subject of many studies and numerous inquiries by ethical committees and other non-governmental and governmental advisory boards during the past 10 to 15 years, in most European countries the debate on DCGT has just begun. DCGT is a rather new phenomenon that is apparently driven by the use of the internet. Although it is a growing market, it is still a niche market; new companies offering genetic testing via the internet currently are showing up constantly. It is however too early to tell whether they will succeed in establishing themselves in the long or even medium term. This makes it difficult to assess the actual relevance of DCGT, which might well develop into a serious competitor to the established forms of genetic counseling and require political or statutory regulation in order to protect consumers’ rights and health.

the quality of testing and information forwarded to consumers (also in case of “lifestyle” testing) is unanimously regarded to be highly relevant to avoid false-positive or false-negative results or any other misleading or meaningless information. p. which was carried out during June and July 2008. This quality of genetic testing is thought to be endangered when the system is circumvented by DCGT. In the US a quality check of four selected web pages offering . 16). www.2 The internet scan was part of a project that provided an in-depth analysis of available literature and policy documents on DCGT as well as a reflection on possible options for political intervention and regulation of the market for DCGT on the European level carried out by the European Technology Assessment Group (ETAG.” to sort out what is sufficiently clinically valid to be used in medical practice and to provide for a high standard of support and counseling for clients according to established guidelines for good practice (see above). In the existing setting of university institutes. etc. said with regard to a growing and uncontrolled market for genetic testing: “We have to prevent the formation of a market of thousands of tests that do not come along with proper interpretation” (Lab Times 2007. companies offering genetic testing directly to consumers claim to support the consumers’ right of free access to new developments in health care as a means of deliberate and self-determined prevention of disease. Whereas criticism is made of misinformation of customers. The results of the survey and their possible implications for policy intervention in the field were discussed with a group of experts at a meeting hosted by the Flemish Institute for Science and Technology Assessment (IST) in Brussels on 22 September 2008.3 Direct-to-consumer genetic testing: definition and problems From the first appearance of offers for genetic testing via the internet (in the US and UK) some seven or eight years ago. Independent of the question of clinical validity of tests offered directly to consumers. it appears to be feasible to restrict the application of testing to the “useful.itas. Bartram says: “The market for useless tests is steadily growing and operates according to the mantra: send us some saliva but don’t forget the cheque” (p. DCGT has become the subject of discussion (so far among expert communities and advisory bodies only) since it appears that with DCGT genetic testing as a health care service may get out of control. Klaus on behalf of the European Parliament. Concerns are expressed mainly by doctors and experts in human genetics as well as by professional medical bodies and health authorities. specialized genetic counselors. and bad quality of testing. 15). The assessment is the result of a systematic scan of offers that can be found on the internet.New Genetics and Society 169 The present paper1 intends to provide insight in the current use of DCGT by outlining the main results of an assessment of 38 internet pages offering genetic testing direct to consumers. Director of the Institute for Human Genetics at the University of Heidelberg and former president of the German Human Genetic Society.fzk.. public insurance systems.

It is in fact the health-related purpose of the test and the fact that the test is supplied outside the established system of health services (without costs being covered by a public health service or by health insurance. Paternal and ancestry testing do. mail. any test to detect differences in DNA. genes or a chromosome that is not provided as part of a medical consultation” (HGC 2003. email or secured internet access.170 L. This includes any genetic test available to the public outside the usual medical control system. In most European countries. Hennen et al. Consumers are the target of a growing number of offers on the internet for paternity testing and for ancestry testing. the term “direct-to-consumer genetic testing” is used for testing services offered for health-related genetic variants and polymorphisms. Paternity testing is associated with serious problems for privacy and data protection. Paternity testing thus has to be regarded as a special field of genetic testing and is usually not explicitly dealt with in debates about DCGT (e. The findings revealed significant cause for concern about consumers being misled. The test results and health recommendations received by the GAO provided strong evidence that a lack of quality control by professional or governmental bodies led to serious cases of misleading information or false results being forwarded to consumers (GAO 2006). In the present report as well as in most of the documents dealing with DCGT.g. . 6) uses the term “home-sampling test. Cheek swabs for 14 fictitious clients were sent to four companies offering DCGT via the internet. diet-related genetic testing has been conducted by the Government Accountability Office (GAO). Fleming 2008). which do not – at least to our current knowledge – imply information about the health status of a person). A related problem is direct-to-consumer promotion of gene tests via advertising campaigns as has been reported for Myriad genetics (Williams-Jones 2006). . paternity determination and prenatal sex determination to heritable breast cancer testing. The results from the laboratory tests are communicated to the user by telephone. 7). p. The definition includes a broad spectrum of tests. or the consultation of a medical genetics expert) that give reason to discuss DCGT in the context of the probable detrimental effects on consumers and of a possible need for new or additional regulatory arrangements. A similar approach to test the quality of DCGT services offered has recently been chosen by some journalists (Harmon 2007. however. .). such tests are not legal without the explicit consent of the child and the mother concerned or the explicit request of a court. The Belgian Advisory ´ Committee for Bio-Ethics (Belgish Raadgevend Comite voor Bio-ethiek 2004. p. the referral by a doctor. HGC 2003. The UK Human Genetics Commission defines DCGT as “. not address health-related questions or involve problems of interpreting results and consulting (since the “genetic fingerprinting” process applied for paternity testing is based on non-coding traits of the genome. 51). p. from ancestry testing. This includes offers for socalled lifestyle-related genetic testing that provides recommendations regarding diet or everyday life (sports etc.” A sample of the material to be tested is taken at home and sent to a laboratory for analysis.

and the quality of information available on the websites. a detailed analysis of how the information on these websites is interpreted by consumers. Analyzing the content of the specific information or the usefulness for the consumer would have required on the one hand a comprehensive assessment of the possible medical value of the DCGT offers and.” “nutrigenetics.” “personalized nutrition” + “genetic. This approach has recently been used for assessing the quality of information accompanying online marketing of non-genetic home diagnostic tests in general (e. Companies exclusively performing paternity and ancestry testing were not included. As we were mainly interested in what kind of offers the end-consumer can access directly on the internet.” “genetic test” + “cancer. which was reduced to 38 (Table 1) according to our criteria for exclusion. The 38 websites were checked in the period between 15 June 2008 and 15 July 2008.g. For this purpose.” An initial list of 49 firms resulted. Quality criteria An in-depth quality assessment of the 38 DCGT offers with respect to their scientific foundation. Selection of websites The scan started from available listings of DCGT web pages (Hogarth et al. following an assessment form that covered general company data. since the related issues and concerns are different. the presence or absence of the topic as such was counted on the websites. their clinical or other utility for the consumer and the ethical and legal status was beyond the scope of the project. We assume these 38 websites to be a representative sample of English-language websites that the consumer would find on the internet when he/she is searching genetic tests for health. Thus. to the type of offers and the testing procedure. the main medium through which they interface with customers. on the other hand.” “genetic test” + “diet. . A Google search was conducted using the key words “home test” + “genetic.or diet-related purposes that can be ordered without contacting any medical personnel. one would have to purchase and perform real tests. 2007) which were used as reference to check comprehensiveness. for allergies.New Genetics and Society 171 Assessment of websites of companies offering DCGT Methodology A systematic scan of the internet was carried out in order to gain a deeper insight into the scope and quality of information provided by companies offering DCGT at their websites. we also ruled out firms which just advertised but did not sell directly to the consumer. the quality assessment of the 38 DCGT websites could only be performed in a quantitative (and thereby more “superficial” way). The focus was on companies offering DCGT for health purposes and for purposes linked to diet and lifestyle. In order to gain detailed and comprehensive data.

country given in parentheses. Hennen et al. HIV or prostate cancer. Company 23andMe Acu-Gen Biolab Inc (BabyGenderMentor) Carolyn Katzin’s The DNA Diet Consumer Genetics Cygene Direct deCODE (Iceland) DNADirect DNAPrint genomics Eastern Biotech and Lifesciences (UAE) GATC (Germany) Genelex Genova Diagnostics G-nostics (UK) GeneLink Biosciences/Dermagenetics Genetic Health UK (UK) Graceful Earth HairDX HealthCheckUSA Health Tests Direct HIVGene Holistic Health Interleukin Genetics/Alticor /Quixtar Kimball Genetics Knome Molecular Diagnostics Laboratories Medi-Checks (UK) Mygenome Navigenics NeuroMark Proactive Genomics Psynomics Salugen Sciona/Mycellf SeqWright HIVMirror/Smart Genetics Smart Genetics/ALZ Mirror Suracell SureGene hepatitis C. As a basis for the comparison of the 38 websites. 12 “information topics” drawn from established professional genetic counseling standards and from the available . DCGT companies evaluated in the period 15 June 2008 to 15 July 2008 (if based outside the USA.172 L. no genetic testing) (Datta et al. To our knowledge. Table 1. 2008). our analysis is the first of this kind for DCGT.

New Genetics and Society 173 Figure 1. COE 2008a) were defined. HGC 2007. three in the UK and one each in Germany. The dominance of US-based firms probably reflects the actual situation. . 2007. . . . . . websites offered solely in other languages were . . literature on DCGT (such as Borry et al. Information on the qualifications of management team/scientific staff The company mentions guidelines on privacy and data protection The company mentions informed consent Certification Reference to scientific publication Information on analytical validity Information on clinical validity Information on clinical utility General information on genetic testing Information on consequences and actions to be taken in the case of a positive test result Information on consequences and actions to be taken in the case of a negative test result The company offers counseling Companies and tests offered Company characteristics Of the 38 firms. the presence of which was counted as a quality item or criterion (see Figure 1): . and in the United Arab Emirates (Table 1). 32 are located in the USA. . . . Number of companies meeting quality criteria. in Iceland. . but because of the restriction on English-language offers.

Other services offered include genome-related social networking. the performance of nongenetic tests. Suracell). which aims to . An allegedly “complete” check for a variety of currently known SNPs (a genetic profile. Because of the high price (see below). For the other 24 companies. SeqWright). one can assume that the results show at least relevant trends and thus give important hints at recent developments. CygeneDirect and Sciona). since the companies often have international markets and thanks to the technological leadership and the specific openness of the US scientific and economic system to novel biomedical applications and enterprises. different services for industry and academia. as it were) was offered by four companies (23andMe. Hair DX. Their other activities cover research in the field of human genetics. So the results of the survey cannot be regarded as being comprehensive on a global scale but. such as genetic factors related to addiction (23andMe and G-nostics). while only 20% (eight companies) test for monogenetic Mendelian diseases (for example cystic fibrosis). Nearly half of the companies (17 of 38) carry out the laboratory work themselves. while one-third of them explicitly outsource the laboratory work. deCODE. Several companies offer genetic testing for other features. there is a link to health and wellness institutions. the latter offering the service direct to consumers. diet advice. The remaining 20% of companies do not offer unambiguous information on this topic. Half of the firms offer testing for genetic variants (SNPs) for susceptibilities for multifactorial diseases (cancer. neurological disorders and others). But this is expected to change as soon as the announced $1000 or at least the $5000 genome (Hayden 2008) shows up. some of them only related in a very general sense to medical aspects. Type of genetic tests offered According to the categories of the assessment form used. offering DCGT is the only field of activity. diabetes. Eastern Biotech and Lifesciences. For 14 of the companies. and only one company tests for the fatal late-onset disease Chorea Huntington (Medi-Checks). In some cases. not accessed in any case. while a total sequencing of the genome can be performed by GATC and Knome. or cosmetics (Genelink Biosciences. in three cases in the broader context of “family inheritance” (23andMe. Twelve companies each explicitly offer pharmacogenetic testing (specific response to medical treatment) and “nutrigenetic” testing (SNP testing on “risk factors” for genetic factors related to personal diet).174 L. cardiovascular disease. these offers are aimed towards scientific institutions at the moment. offering DCGT is just one of several different services. the numbers of companies offering the different kinds of tests are as shown in Figure 2. Hennen et al. or the offer of dietary supplements. respectively. Navigenics and SeqWright). Non-health-related paternity and ancestry testing is offered by six and seven companies. athletic performance (23andMe.

. premarital screening (Eastern Biotech and Lifesciences). discover inheritance patterns and relations between relatives without a specific question or goal. Other individual types of offers are tests for sex testing of fetuses (Acu-Gen Biolab).New Genetics and Society 175 Figure 2. or tests for mutations influencing HIV resistance (HIVGene and HIV Mirror). Types of tests offered. infertility testing (DNA Direct).

by telephone (12%) and/or to the doctor stated (19%). since the result must be interpreted by a psychiatrist. On the UK website of the company Genova Diagnostics. seven advise the patient to consult his/her doctor. If you are not currently under the guidance of a practitioner. Some companies have different procedures. . depending on the residence of the consumer (in relation to state-specific regulations) or depending on the type of test (in relation to the gravity of the disease to be tested for). In most cases. such as Health Check USA.176 L. or could be taken from one of our Phlebotomy centres. the consumer needs to provide the licensing number of his/her psychiatrist. Some companies. address. Testing procedure and role of health care professionals Most of the companies (34 or 86%) offer a test kit for home use with the DNA probe (cheek swab or saliva/blood) to be sent to the provider for analysis. Results are never obtained directly at home. the website gives no clear information on whether the submission of results is connected with consultation of an expert. Please note that in accordance with UK Laboratory regulations. we are able to release the results to you. the results are submitted to the client without any option of consulting an expert4 (41%). but some kits requiring a blood sample will need the assistance of your GP/practice nurse. The company Consumer Genetics for example submits the results to the client without the option of consulting an expert. and five advise the patient to contact the company’s doctor. which specializes in testing for neurological and related disorders. except for residents in the states of New York and California. A total of 33% of the companies offer test kits to be used under the supervision of a doctor. Hennen et al. For the company Kimball Genetics “the name. Nineteen percent of the companies submit the results to the client with consultation as a mandatory part of the process. They are submitted to the client by letter (33%). For the company Psynomics for example. urge the consumer to discuss the result with his/her physician. . . online/by email (76%). phone and fax number of a physician are required in order to report your test results. samples submitted without a physician indicated on the Test Request form cannot be processed. however these should be taken to a practitioner for interpretation and support. . Twenty-seven percent of the companies submit the results to the client with the option of consulting an For the other 14% of the companies. There is a wide variation in the mandatory or suggested consultation of health care professionals: . who need a prescription from a medical doctor.” (Kimballgenetics. the following information is provided: The majority of our test kits can be used in your own home. results will be released to your referring practitioner where applicable. Of these 12 companies.

gov/CDRH/clia/).New Genetics and Society 177 The US website makes it clear that consulting an expert is a mandatory part of the process (“only available through licensed health care professional”). 24% give information on the clinical validity (relationship between the biomarker and the clinical status). Information on the accuracy of test data Overall. a pre-test consultation is a mandatory part of the process.5 and 18% indicate other ethical guidelines. reliability and timeliness of patient test results (see http://www. If the genetic testing is performed by DNA Direct’s clinical services. 29% refer to the topic of informed consent.fda. all tests are first authorized by a medical doctor on the basis of a pre-test questionnaire and consultation. information for lay people is given on the scientific basis of the genetic tests offered. A total of 39% of the companies mention privacy guidelines (data protection). Two-thirds (26/38) of the companies highlight their scientific advisory board. At the company DNA Direct. Only two of the 38 companies’ websites mention a membership of professional bodies (Smart Genetics/ALZ Mirror and Health Check USA) and only three mention that they are subject to control by public authorities (23andMe. 63% of the companies mention that they are certified by the US Food and Drug Administration (FDA) according to CLIA (Clinical Laboratory Improvement Amendments) which defines quality standards for all laboratory testing to ensure the accuracy. infertility and recurrent pregnancy loss. Thirty-seven percent of the companies’ websites give specific information on the analytical validity of the genetic tests offered (accuracy of the test identifying the biomarker). SaluGen and SeqWright). For genetic tests for breast and ovarian cancer. more detailed information about the qualification (CVs) of the management team and the scientific staff was presented on 63% of the websites. reference is made to expert knowledge and/or scientific evidence. In 47% of the scanned websites. Thirty-two percent of the companies’ . Scope and kind of information available on the websites Information on qualification of institute and personnel Apart from a general assurance of good quality of the company’s service (which was highlighted by 71% of the websites). while only seven (less than a fifth) mention an ethical advisory board as well on their website. Information on genetic testing in general and test-specific information On 61% of the assessed websites. and 16% give information on the clinical utility (likelihood that the test will lead to an improved outcome). post-test consultation is included in the service fees.

Seven companies give information on the qualification of the counseling staff. Often it is not clear what is understood by the term “counseling. privacy guidelines. Of the 12 companies offering pharmacogenetic tests. the other eight do not explain what pharmacogenetics is. Genetic Health UK. and one explicitly outsources the counseling to another DCGT firm (HealthCheckUSA to Kimball Genetics).” “genetic representative” and “genetic consultation expert” are used.178 L. seven websites give general information on nutrigenetics. and eight after testing. four present general information on the topic of pharmacogenetics. DNA Direct. Of the 12 companies offering nutrigenetic tests. seven organize the genetic counseling within the company. deCODE. Kimball Genetics. delivers information on consequences in the form of a detailed report with genetic interpretation. Fifty percent of the companies make reference to one or more scientific publications to support the validity of tests offered. etc. websites contain information on the subgroups of population suitable for testing or information on the question of when a genetic test can be useful and when not.” Terms such as “board certified counselor. DNADirect and Smart Genetics/ALZ Mirror make reference to the US National Society of Genetic Counselors’ directto-consumer guidelines (which include informed consent. laboratory certification. counseling is offered for physicians and patients. . which is normally accompanied only by written information via internet access (a service which 23andMe does not provide itself). Six of the 10 companies offer counseling before testing. Navigenics. which is prepared by certified genetic counselors and geneticists. Health Check USA. A total of 53% of the websites give information on which SNPs are tested. Two websites are not clear on how they organize the counseling (Eastern Biotech Lifesciences and Genetic Health UK). At Genelex. Kimball Genetics. Hennen et al. Information on the necessity and possible methods of counseling Ten of the 38 companies mention on their websites that they offer counseling (Carolyn Katzin’s The DNA Diet. for example. The counseling is performed via telephone in nine cases. Of the 10 companies that offer counseling. Two companies make reference to a professional code of practice (Smart Genetics/ALZ Mirror and DNA Direct). Eastern Biotech Lifesciences. DNA Direct offers separate counseling for customers of 23andMe. and two companies offer it in an internet-based form. Navigenics) deliver information on the methods used to calculate a composite risk from different SNPs which influence the same condition. but in completely different ways. Smart Genetics/ALZ Mirror). before and after a genome-wide SNP scan. Three of the four companies that offer genome-wide SNP testing (23andMe. recommendations and education.). Genelex. Smart Genetics/HIV Mirror. and DNADirect also refers to the American College of Medical Genetics statement on direct-to-consumer-genetics (with information on the scientific evidence).

55%) complied with four . The price for a total sequencing of the genome was US$156. and for multifactorial diseases from US$199 to US$3456. especially dietary supplements. General SNP risk factor testing costs between US$199 and US$3456. The company SaluGen for example asks customers to agree to a contract for a monthly supply of GenoTrim (US$99). The company Mygenome for example says: “Mygenome information services will provide a simple interpretation of the test results and guidance on how to use these results. Six websites (18%) complied with eight criteria. and nutrigenomic tests between US$99 and US$625. Suracell for example promotes an “age-management program” which consists of taking one or more of their proprietary nutriceuticals and follow-up urine testing.mygenome. Information on the price of genetic testing Seventy-one percent of the websites give clear information on the price of the genetic tests.6 Other companies are not very clear on the total price of the service.900 (Knome) or US$350. and four websites are not clear.New Genetics and Society 179 Nineteen companies state explicitly that they do not offer counseling. Consumers who do not read this carefully will have to pay US$99 every month. but the heterogeneity in price levels is difficult to interpret. In turn. Thus.000 (GATC). Quality assessment of the information available on the websites The general quality assessment of the information offered by the 38 web pages on the basis of our set of 12 quality criteria revealed that none of the websites complied with all of the 12 quality criteria. More than half of the websites (21/38. this means that three-quarters of the websites present information only on six items or fewer. We can also refer you to doctors who can provide appropriate care” (http://www. five websites give no information on this topic. Prices for a genetic test for monogenetic diseases range from US$70 to US$ with a fee for early termination. Information on consequences and actions to be taken Forty-seven percent of the companies’ websites present information on consequences and actions to be taken if the test result is positive. and only one presented information on 11 items (only the information on analytical validity was missing). as it is not always clear which services are included in a particular testing offer. Some firms offer “specific” products related to the test results. and 37% give information on the consequences and the actions to be taken if it is negative. and two with seven. only a quarter (9/38) complied with seven and more of the 12 quality criteria. pharmacogenetic tests cost between US$175 and US$630.

research could be conducted using focus groups with lay people. no genetic counseling was offered at all. The Federal Trade Commission together with the Food and Drug Administration and the Centers for Disease Control in July 2006 released a consumer alert because of the lack of scientific validity in some gene tests offered (FTC 2006). or fewer of the 12 quality criteria. this seems to be a serious problem. Among US authorities there seems to be serious concern that DCGT may escape from proper quality control and oversight (NHGRI 2004. Smith 2006.eurogentest. In the light of the possibly far-reaching consequences for consumers purchasing genetic tests via the internet. and still one-fifth of the websites (8/38. misinterpretation of results and the absence of follow-up counseling (ACMG 2004). In 2008. the German Society of Human Genetics (GfH) in an official opinion judged DCGT offers for SNP testing as scientifically unsound and highlighted that genetic diagnostics in each . medical authorities and governmental bodies in Europe and in the US. In the US the American College of Medical Genetics has advised the public to avoid “home DNA tests” as they could be potentially harmful because of inappropriate test utilization. Conclusions The findings presented above are based on a scan of a non-random sample of websites of companies offering DCGT for health. There is no doubt that the increasing numbers of DCGT offers showing up on the internet cause concern to Hennen et al. and the EU funded Eurogentest Network of Excellence (www.180 L. DCGT has so far been constantly observed and discussed avidly in the UK. From the results. The lack of information on the website is not compensated for by the offer of counseling. policy advisory bodies and expert groups that dealt with the issue in recent years. Thus. This approach was based on the assumption that the website is an important information source for consumers and often the basis on which the consumer decides to order a test or not. which should be analyzed and probably continuously monitored in the future. we can conclude that the quality of the information posted on websites is unsatisfactory for consumers to make a well-based decision to make use of the services of the company. in general. For the majority of the companies in this assessment. The transparency of the websites is usually very low. clinical validity and clinical utility. thanks to the initiative taken by the Human Genetics Commission (HGC 2003. DCGT is closely watched by the community of medical genetics and counselors. To be able to understand how the information on these websites is interpreted by consumers. 2007). especially for information on analytical validity. In Europe. SACGHS 2007). Javitt and Hudson 2006. diet and lifestyle purposes. 21%) complied with only two or fewer of the 12 quality criteria. The findings of our survey are very much in line with and support the appraisal of DCGT offers by public authorities. the quality assessment shows that the majority of websites checked display fundamental information deficits.

avoid fatty foods). However. If results are negative. high blood pressure from bad dietary habits. the suppliers of DCGT understand their offers as a means to give consumers access to the newest achievements of human genome research. Genelex) at the US Senate Hearing on DCGT in 2006. The majority of observers are concerned about: (1) the often poor scientific evidence of the clinical validity and usefulness of the testing offered (particularly for common diseases and lifestyle purposes). some consider offering this directly to consumers to be harmless. Many experts regard most offers of testing for susceptibilities based on SNPs to be pointless from a scientific point of view. opine that even this kind of testing may harm clients. It has been argued that problems with handling the interpretation of results are also reported from medical tests that are already offered for private . Morgan et al. This is plausible from an economic perspective. Kroese et al. the client may gain the false impression of being safe with regard to developing a certain disease and might not see the need for adopting a healthy lifestyle. 2007. as the absence of “negative” SNPs tested does not imply an absence of the risk of developing e. Ropers and Ullmann 2007). 2007. Genox. as the internet survey reveals. only the minority of DCGT offers meet a minimum set of quality criteria that can be regarded as necessary for ensuring adequate information and protection of customers against misleading interpretation of the need for and possible consequences of genetic testing. 2007.8 However. however.7 As for instance has been shown by statements of representatives of companies offering DCGT (Sciona. Others. There is obviously a problem with interpreting the results of susceptibility tests correctly. Suracell. other behavioral and environmental factors or other (so far unknown) genetic traits. Hogarth and Melzer 2007. by this they claim to support progress in health care supply and to foster consumer autonomy by helping them make the long-term behavioral changes required for optimizing health care (US Senate 2006). 2008b). since recommendations that can be drawn (and are drawn by providers) from positive test results usually do not go beyond what a doctor would recommend to any patient as being good for his/her health (e. The Council of Europe has also taken up the issue (COE 2008a. (2) the poor quality of information offered to consumers and the problems of providing proper genetic counseling via the internet. practice sports. this would be totally misleading.g. since the market potential for common diseases and lifestyle testing massively exceeds that for rare hereditary diseases and carrier testing. since the clinical validity of most of the tests has not (yet) been sufficiently proven (Frayling et al.g.New Genetics and Society 181 case should be based on a profound medical consultation (GfH 2008). Poor scientific evidence for the clinical validity of tests As is supported by our internet survey the majority of DCGT offers appear to be for susceptibilities to common diseases (based merely on SNPs).

the results of genetic testing may be relevant and have an impact not only on the individual tested but also on other family members (HGC 2003. such as a test for osteoporosis. The study found the companies’ practice of combining tests for a large number of genetic variants into so-called “profiles” to be “. 24). thus the health effects of preventive interventions on the basis of a related test may not be entirely beneficial (Janssens et al. In addition. 2008. it can be argued that there are reasons to treat genetic testing with special consideration and caution. 23). Sciona and Suracell) supports the notion of doubtful or even intentionally misleading information being forwarded to consumers on the basis of genetic testing of susceptibilities to common diseases and dietary related health problems (Janssens et al. causing serious concerns without reason). see also results of a recent test of services offered by 23andMe and Navigenics: Ng et al. with adverse effects on the consumer’s health or psychological condition (e. worrisome given the limited predictive value of results from testing single susceptibility genes with small effects” (Janssens et al. Integrative Genomics. 2009). Problems of providing proper genetic counseling The salience of medical consultation and genetic counseling in the context of genetic testing and the sensitive nature of genetic testing from the perspective of the general public can be gleaned from the fact that two-thirds of respondents to an opinion poll carried out on behalf of HGC in 2002 would also prefer to consult a doctor for genetic testing that is not related to possible severe diseases but only to lifestyle aspects and paternity (HGC 2003. p. Particularly in the case of susceptibility testing the relationship between a detected genetic trait and the onset of disease is complex (due to the interrelation of several genes and the environment). Salugen. for several genes tested it is known that they increase the risk for some diseases and decrease it for others. 16). Genovations. Genosolutions. p. The results of our internet survey provide the impression that most DCGT offers fail to provide proper information on the scientific evidence behind genetic testing services offered to customers (clinical validity and utility). 598. The study also found the companies’ practice of using these profiles to tailor individualized nutrition supplements and lifestyle recommendations to be “another intriguing puzzle” (p. the study found no or only poor evidence for the clinical validity of tests. On the other hand. since trials to test gene –diet interactions had thus far only yielded mainly inconclusive results. . and thus the connection between the result of the test and the consequences for the person tested is not straightforward. . Hennen et al.182 L. 2008. 597). In examining scientific meta-studies on the markers used by the seven companies. in such cases the use of tests might lead to false-positive or false-negative results. Moreover.g. p. p. Similar results . (home) use. Also. 2008). A recently published study on the scientific evidence available for offers of predictive testing for health risks and personalized health interventions from seven companies (Genelex.

p. Offers via the internet can thus be criticized for taking place not in a context defined by medical consultation in the best interests of the patient/client.New Genetics and Society 183 were found by an online survey of social networkers in the US recently (McGuire et al. a DCGT offer can be senseless or even harmful if only one or two relevant points are missing (e. does not necessarily imply that the involvement of a doctor is crucial. on clinical validity and clinical utility). but according to a commercial principle. relatives that may have to be informed about the test result. however. it was emphasized that irrespective of the quality of information on single topics.).” When communication and “counseling” are only provided via mail or webexchange. nine or even 11 “quality criteria” must certainly be interpreted “negatively. The main concern regarding DCGT is obviously that the services offered cannot live up to the high professional standards of medical and genetic consultation required (by statutory regulations or professional guidelines) for normal genetic testing in the context of genetic counseling. Only one company complied with 11 of our 12 information quality criteria. Notes 1. at the core of “free choice” is good information to provide informed consent from the customer. . Moreover. In testing for complex and serious diseases. However. the authors regret that they were not able to follow all advice given by the referees. and “counseling” in most cases only is provided as written information via mail or via web-log. This seems to be far from being guaranteed when there is an economic interest in “convincing” a customer that he or she will benefit from testing. The comments of two anonymous referees have been very helpful to improve the quality of the paper. p. It can of course be argued that DCGT offers support free access and free choice for consumers by broadening the scope of options for genetic testing. personal communication is needed about the individual’s situation. What is important. However. according to HGC. Thus. 2009). and information on possible treatment or preventive measures. most companies offering genetic testing services via the internet do not include genetic counseling at all in their services. This. seven or eight topics is hard to interpret in “positive” terms – but the absence of seven. the presence of information on six. during the experts’ workshop. 28f. “where the health care professional was simply facilitating a transaction for a kit or self-testing mail order service” (HGC 2003. The information offered via the web is often very poor and does not comply with professional standards of counseling as the results from our quality criteria assessment reveal.g. According to our internet survey. The confidentiality and empathy required would probably not be possible via written information and communication (HGC 2003. it is almost impossible to make sure that the information given has been properly understood by the customer. 25). Only a few urge customers to involve an expert before purchasing a gene test. is the extent to which the setting in which the service is offered and applied allows (or suits) consideration of high-level professional standards.

University of Leuven. Despite the fact that tests for monogenetic diseases are offered by a few websites and many websites offer a mix of different test types to consumers. Lund University Hospital. the European Group on Peter Pohl. University of Loughborough. the Belgian National Consultative Committee on Bioethics and the French National Consultative Committee on Bioethics. The following experts participated in the meeting: Pascal Borry. It is however not visible that 23andMe has excluded tests for SNPs indicating health-related risks from its “terms of service” as of 3 November 2008). . because the chemical reagents needed alone cost more than the offered price. Gene Watch UK. Our arguments regarding bad quality of consumer information offered at the websites and problems of DCGT thus apply mainly for susceptibility testing. Helen Wallace.. The fact that several companies in their terms of service claim not to offer services for health purposes confirms our findings because the appearance of their web offers tells the opposite story to the potential customer. ACMG statement on direct-to-consumer genetic testing. European Guidance. Advies nr.eurogentest. Available from: http://www. we did not examine to what exactly the consumer gives his/her informed consent. 4.europarl. 2. et al. European Ethical-Legal Papers No. We regard these claims to be a central part of the problem as a strategy to move out of the focus of governmental oversight. GATC site. An expert is interpreted as a health care professional and not necessarily as a genetic counselor.acmg. usually is not differentiated for different test types. as requested by one referee. 32 van 5 juli 2004 betrffende de vrije beschikbaarheid van genetische tests. pdf [Accessed 29 April 2010]. Heidi portal/docs [Accessed 29 April 2010]. McGill University Montreal. References ACMG (American College of Medicine Genetics). 2004. Genetic testing and counselling. 2004.184 L. ´ Belgisch Raadgevend Comite voor Bio-ethiek. 3. P.fgov. Brussels. susceptibility testing based on SNPs makes up the center of the DCGT business model. Leuven. 6. At the experts’ workshop held in September 2008 it was doubted that Knome really can perform the total sequencing at that price (or that the company can earn money by doing this). The full report of the project is available at the website of the European Parliament’s Science and Technology Options Assessment Panel (STOA 2008): http://www. Stuart ´ Hogarth. 2007. Within the scope of this study. 3. Genetic Interest Group. which was the object of our survey. Obviously as a reaction to criticism and intervention by public authorities 23andMe now argues – and states in a disclaimer on its webpage – that it is providing genetic information for research and educational use only but not medical advice (“not intended to be used for any diagnostic purpose and is not a substitute for professional medical advice”: www. Ulf Kristoffersson. default_en. Alastair Kent.. Borry. Available from: https://portal. 7. Information provided by the websites before carrying out a test. Hennen et al.23andMe. We are confident that this is made clear enough in our concluding discussion.pdf [Accessed 29 April 2010].net/StaticContent/StaticPages/Direct_Consumer. 5. We could not bring ourselves to exclude those companies that (meanwhile) claim not to offer services for health purposes from our analysis. 2007. Other official bodies that have discussed the issue of DCGT are the American Medical Association. It was impossible to discern between information given for different types of tests. http://www.

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