Direct to consumer genetic testing: insights from aninternet scan

Leonhard Hennena∗, Arnold Sautera and Els Van Den Cruyceb

aInstitute for Technology Assessment and Systems Analysis, Karlsruhe Institute ofTechnology, Karlsruhe, Germany; bInstitute Society and Technology, FlemishParliament, Brussels, Belgium

A survey of 38 internet platforms of companies offering genetic testing servicesdirect to consumers was carried out in summer 2008. The internet surveysupported the notion held by many experts and discussed by policy advisorybodies that (1) many direct-to-consumer genetic testing (DCGT) offers donot meet a minimum set of quality criteria that can be regarded to benecessary for ensuring adequate information and protection of customersagainst misleading interpretation of the need for as well as the possibleconsequences of genetic testing; (2) most DCGT offers fail to provide properinformation on the scientific evidence behind genetic testing services offeredto customers (clinical validity and utility); (3) many of the companiesoffering genetic testing services via the internet do not include geneticcounseling at all in their services. Only a few urge customers to involve anexpert before purchasing a gene test, and “counseling” in most cases only isprovided as written information via mail or via web-log.

Keywords: testing; genetic counseling; consumer protection; public healthgenomics

Introduction

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

New Genetics and SocietyVol. 29, No. 2, June 2010, 167–186

∗Corresponding author. Email: hennen@kit.edu

ISSN 1463-6778 print/ISSN 1469-9915 online

# 2010 Taylor & Francis

DOI: 10.1080/14636778.2010.484232

http://www.informaworld.com

of common diseases, which might open the door for misuse and clinically non-indicated applications of testing (Borry et al. 2007). Apart from the limitednumber of tests available, the fact that a small group of medical practitioners andgenetic counselors has controlled the practice of testing has been regarded as guar-anteeing a knowledgeable, cautious and responsible application of genetic testing,which contrasted with the negative scenarios of its widespread and clinically doubt-ful use (HGC 2003). In recent years, however, some of the barriers to a growth ofgenetic testing beyond the “protected” realm of genetic counseling carried out inhospitals for a restricted number of persons who might be carriers of rare inheritedgenetic diseases have vanished or are losing strength. New technological optionsare available that make it both technically easier and cheaper for a genetic test tobe carried out. Connected with the lowering of the technical barriers to genetictesting is a tendency for new (private) suppliers to enter the market. And lastbut not least, genetic testing is being offered not only for some rare Mendeliandiseases but increasing for susceptibilities to common diseases such as cancer,diabetes or cardiovascular diseases, indicating an above-average risk of a persondeveloping a disease. However, doubtful the clinical validity and usefulness ofthese tests may be, such use has the potential of making genetic testing a partof everyday health care, as for instance is shown by ongoing discussionsabout “public health genetics” (see e.g. the European Public Health GenomicsNetwork, www.phgen.eu).

A related phenomenon has been the transition to a new “business model” or“practical setting” for genetic testing since the late 1990s, namely genetic testingand counseling services offered directly to consumers. Some regard this way ofbypassing the medical or health care setting (with specialized doctors and theirclients) that previously controlled access to these services as providing freeaccess to genetic testing, letting consumers decide on their own whether to makeuse of these testing options. Others consider direct-to-consumer genetic testing(DCGT) to be a possibly dangerous marketing ploy that will lead to genetictesting that is uncontrolled, scientifically unjustified, qualitatively doubtful andoften intentionally misleading (GAO 2006, HGC 2007, Janssens et al. 2008).

In contrast to the established practice, medical benefits and ethical and socialproblems of genetic testing, which have been the subject of many studies and numer-ous inquiries by ethical committees and other non-governmental and governmentaladvisory boards during the past 10 to 15 years, in most European countries thedebate on DCGT has just begun. DCGT is a rather new phenomenon that is appar-ently driven by the use of the internet. Although it is a growing market, it is still aniche market; new companies offering genetic testing via the internet currently areshowing up constantly. It is however too early to tell whether they will succeed inestablishing themselves in the long or even medium term. This makes it difficultto assess the actual relevance of DCGT, which might well develop into a seriouscompetitor to the established forms of genetic counseling and require political orstatutory regulation in order to protect consumers’ rights and health.

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The present paper1 intends to provide insight in the current use of DCGT by out-lining the main results of an assessment of 38 internet pages offering genetic testingdirect to consumers. The assessment is the result of a systematic scan of offers thatcan be found on the internet, which was carried out during June and July 2008. Theresults of the survey and their possible implications for policy intervention in thefield were discussed with a group of experts at a meeting hosted by the FlemishInstitute for Science and Technology Assessment (IST) in Brussels on 22 September2008.2 The internet scan was part of a project that provided an in-depth analysis ofavailable literature and policy documents on DCGT as well as a reflection on possibleoptions for political intervention and regulation of the market for DCGT on theEuropean level carried out by the European Technology Assessment Group (ETAG,www.itas.fzk.de/etag) on behalf of the European Parliament.3

Direct-to-consumer genetic testing: definition and problems

From the first appearance of offers for genetic testing via the internet (in the US andUK) some seven or eight years ago, DCGT has become the subject of discussion(so far among expert communities and advisory bodies only) since it appearsthat with DCGT genetic testing as a health care service may get out of control.In the existing setting of university institutes, public insurance systems, specializedgenetic counselors, etc., it appears to be feasible to restrict the application of testingto the “useful,” to sort out what is sufficiently clinically valid to be used in medicalpractice and to provide for a high standard of support and counseling for clientsaccording to established guidelines for good practice (see above). This quality ofgenetic testing is thought to be endangered when the system is circumvented byDCGT. Concerns are expressed mainly by doctors and experts in human geneticsas well as by professional medical bodies and health authorities. Klaus Bartram,Director of the Institute for Human Genetics at the University of Heidelberg andformer president of the German Human Genetic Society, said with regard to agrowing and uncontrolled market for genetic testing: “We have to prevent theformation of a market of thousands of tests that do not come along with properinterpretation” (Lab Times 2007, p. 16). Bartram says: “The market for uselesstests is steadily growing and operates according to the mantra: send us somesaliva but don’t forget the cheque” (p. 15). Whereas criticism is made of misinfor-mation of customers, and bad quality of testing, companies offering genetic testingdirectly to consumers claim to support the consumers’ right of free access to newdevelopments in health care as a means of deliberate and self-determinedprevention of disease.

Independent of the question of clinical validity of tests offered directly to consu-mers, the quality of testing and information forwarded to consumers (also in caseof “lifestyle” testing) is unanimously regarded to be highly relevant to avoidfalse-positive or false-negative results or any other misleading or meaninglessinformation. In the US a quality check of four selected web pages offering

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diet-related genetic testing has been conducted by the Government AccountabilityOffice (GAO). Cheek swabs for 14 fictitious clients were sent to four companiesoffering DCGT via the internet. The test results and health recommendationsreceived by the GAO provided strong evidence that a lack of quality control byprofessional or governmental bodies led to serious cases of misleading informationor false results being forwarded to consumers (GAO 2006). A similar approach totest the quality of DCGT services offered has recently been chosen by some jour-nalists (Harmon 2007, Fleming 2008). The findings revealed significant cause forconcern about consumers being misled.

The UK Human Genetics Commission defines DCGT as “. . . any test to detectdifferences in DNA, genes or a chromosome that is not provided as part of amedical consultation” (HGC 2003, p. 7). This includes any genetic test availableto the public outside the usual medical control system. The Belgian AdvisoryCommittee for Bio-Ethics (Belgish Raadgevend Comite voor Bio-ethiek 2004,p. 6) uses the term “home-sampling test.” A sample of the material to be testedis taken at home and sent to a laboratory for analysis. The results from the labora-tory tests are communicated to the user by telephone, mail, email or secured inter-net access. The definition includes a broad spectrum of tests, from ancestry testing,paternity determination and prenatal sex determination to heritable breast cancertesting. A related problem is direct-to-consumer promotion of gene tests via adver-tising campaigns as has been reported for Myriad genetics (Williams-Jones 2006).

In the present report as well as in most of the documents dealing with DCGT, theterm “direct-to-consumer genetic testing” is used for testing services offered forhealth-related genetic variants and polymorphisms. This includes offers for so-called lifestyle-related genetic testing that provides recommendations regardingdiet or everyday life (sports etc.). Consumers are the target of a growing numberof offers on the internet for paternity testing and for ancestry testing. Paternitytesting is associated with serious problems for privacy and data protection. Inmost European countries, such tests are not legal without the explicit consent ofthe child and the mother concerned or the explicit request of a court. Paternaland ancestry testing do, however, not address health-related questions or involveproblems of interpreting results and consulting (since the “genetic fingerprinting”process applied for paternity testing is based on non-coding traits of the genome,which do not – at least to our current knowledge – imply information about thehealth status of a person). Paternity testing thus has to be regarded as a specialfield of genetic testing and is usually not explicitly dealt with in debates aboutDCGT (e.g. HGC 2003, p. 51).

It is in fact the health-related purpose of the test and the fact that the test is sup-plied outside the established system of health services (without costs being coveredby a public health service or by health insurance, the referral by a doctor, or theconsultation of a medical genetics expert) that give reason to discuss DCGT inthe context of the probable detrimental effects on consumers and of a possibleneed for new or additional regulatory arrangements.

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Assessment of websites of companies offering DCGT

Methodology

A systematic scan of the internet was carried out in order to gain a deeper insightinto the scope and quality of information provided by companies offering DCGT attheir websites, the main medium through which they interface with customers. Thefocus was on companies offering DCGT for health purposes and for purposeslinked to diet and lifestyle. Companies exclusively performing paternity and ances-try testing were not included, since the related issues and concerns are different.

Selection of websites

The scan started from available listings of DCGT web pages (Hogarth et al. 2007)which were used as reference to check comprehensiveness. A Google searchwas conducted using the key words “home test” + “genetic,” “nutrigenetics,”“genetic test” + “diet,” “personalized nutrition” + “genetic,” “genetic test” +“cancer.” An initial list of 49 firms resulted, which was reduced to 38 (Table 1)according to our criteria for exclusion. As we were mainly interested in whatkind of offers the end-consumer can access directly on the internet, we alsoruled out firms which just advertised but did not sell directly to the consumer.

We assume these 38 websites to be a representative sample of English-languagewebsites that the consumer would find on the internet when he/she is searchinggenetic tests for health- or diet-related purposes that can be ordered without con-tacting any medical personnel.

The 38 websites were checked in the period between 15 June 2008 and 15 July2008, following an assessment form that covered general company data, to the typeof offers and the testing procedure, and the quality of information available on thewebsites.

Quality criteria

An in-depth quality assessment of the 38 DCGT offers with respect to their scien-tific foundation, their clinical or other utility for the consumer and the ethical andlegal status was beyond the scope of the project. In order to gain detailed and com-prehensive data, one would have to purchase and perform real tests. Analyzing thecontent of the specific information or the usefulness for the consumer would haverequired on the one hand a comprehensive assessment of the possible medicalvalue of the DCGT offers and, on the other hand, a detailed analysis of how theinformation on these websites is interpreted by consumers.

Thus, the quality assessment of the 38 DCGT websites could only be performedin a quantitative (and thereby more “superficial” way). For this purpose, the pres-ence or absence of the topic as such was counted on the websites. This approach hasrecently been used for assessing the quality of information accompanying onlinemarketing of non-genetic home diagnostic tests in general (e.g. for allergies,

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hepatitis C, HIV or prostate cancer; no genetic testing) (Datta et al. 2008). To ourknowledge, our analysis is the first of this kind for DCGT.

As a basis for the comparison of the 38 websites, 12 “information topics” drawnfrom established professional genetic counseling standards and from the available

Table 1. DCGT companies evaluated in the period 15 June 2008 to 15 July 2008 (if based outside theUSA, country given in parentheses.

Company

23andMeAcu-Gen Biolab Inc (BabyGenderMentor)Carolyn Katzin’s The DNA DietConsumer GeneticsCygene DirectdeCODE (Iceland)DNADirectDNAPrint genomicsEastern Biotech and Lifesciences (UAE)GATC (Germany)GenelexGenova DiagnosticsG-nostics (UK)GeneLink Biosciences/DermageneticsGenetic Health UK (UK)Graceful EarthHairDXHealthCheckUSAHealth Tests DirectHIVGeneHolistic HealthInterleukin Genetics/Alticor /QuixtarKimball GeneticsKnomeMolecular Diagnostics LaboratoriesMedi-Checks (UK)MygenomeNavigenicsNeuroMarkProactive GenomicsPsynomicsSalugenSciona/MycellfSeqWrightHIVMirror/Smart GeneticsSmart Genetics/ALZ MirrorSuracellSureGene

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literature on DCGT (such as Borry et al. 2007, HGC 2007, COE 2008a) weredefined, the presence of which was counted as a quality item or criterion (seeFigure 1):

. 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 positivetest result

. Information on consequences and actions to be taken in the case of a negativetest result

. The company offers counseling

Companies and tests offered

Company characteristics

Of the 38 firms, 32 are located in the USA, three in the UK and one each inGermany, in Iceland, and in the United Arab Emirates (Table 1). The dominanceof US-based firms probably reflects the actual situation, but because of the restric-tion on English-language offers, websites offered solely in other languages were

Figure 1. Number of companies meeting quality criteria.

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not accessed in any case. So the results of the survey cannot be regarded as beingcomprehensive on a global scale but, since the companies often have internationalmarkets and thanks to the technological leadership and the specific openness of theUS scientific and economic system to novel biomedical applications and enter-prises, one can assume that the results show at least relevant trends and thusgive important hints at recent developments.

For 14 of the companies, offering DCGT is the only field of activity. For the other24 companies, offering DCGT is just one of several different services. Their otheractivities cover research in the field of human genetics, the performance of non-genetic tests, or the offer of dietary supplements. Other services offered includegenome-related social networking, diet advice, different services for industry andacademia. In some cases, there is a link to health and wellness institutions.

Nearly half of the companies (17 of 38) carry out the laboratory workthemselves, while one-third of them explicitly outsource the laboratory work.The remaining 20% of companies do not offer unambiguous information on thistopic.

Type of genetic tests offered

According to the categories of the assessment form used, the numbers of companiesoffering the different kinds of tests are as shown in Figure 2. Half of the firms offertesting for genetic variants (SNPs) for susceptibilities for multifactorial diseases(cancer, cardiovascular disease, diabetes, neurological disorders and others),while only 20% (eight companies) test for monogenetic Mendelian diseases (forexample cystic fibrosis), and only one company tests for the fatal late-onsetdisease Chorea Huntington (Medi-Checks).

Twelve companies each explicitly offer pharmacogenetic testing (specificresponse to medical treatment) and “nutrigenetic” testing (SNP testing on “riskfactors” for genetic factors related to personal diet).

An allegedly “complete” check for a variety of currently known SNPs (a geneticprofile, as it were) was offered by four companies (23andMe, deCODE, Navigenicsand SeqWright), while a total sequencing of the genome can be performed byGATC and Knome, the latter offering the service direct to consumers. Becauseof the high price (see below), these offers are aimed towards scientific institutionsat the moment. But this is expected to change as soon as the announced $1000 or atleast the $5000 genome (Hayden 2008) shows up.

Several companies offer genetic testing for other features, some of them onlyrelated in a very general sense to medical aspects, such as genetic factors relatedto addiction (23andMe and G-nostics), athletic performance (23andMe, Cygene-Direct and Sciona), or cosmetics (Genelink Biosciences, Hair DX, Suracell).

Non-health-related paternity and ancestry testing is offered by six and sevencompanies, respectively, in three cases in the broader context of “family inheri-tance” (23andMe, Eastern Biotech and Lifesciences, SeqWright), which aims to

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discover inheritance patterns and relations between relatives without a specificquestion or goal.

Other individual types of offers are tests for sex testing of fetuses (Acu-GenBiolab), infertility testing (DNA Direct), premarital screening (Eastern Biotechand Lifesciences), or tests for mutations influencing HIV resistance (HIVGeneand HIV Mirror).

Figure 2. Types of tests offered.

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Testing procedure and role of health care professionals

Most of the companies (34 or 86%) offer a test kit for home use with the DNAprobe (cheek swab or saliva/blood) to be sent to the provider for analysis. Atotal of 33% of the companies offer test kits to be used under the supervision ofa doctor. Of these 12 companies, seven advise the patient to consult his/herdoctor, and five advise the patient to contact the company’s doctor.

Results are never obtained directly at home. They are submitted to the client byletter (33%), online/by email (76%), by telephone (12%) and/or to the doctorstated (19%).

There is a wide variation in the mandatory or suggested consultation of healthcare professionals:

. In most cases, the results are submitted to the client without any option ofconsulting an expert4 (41%). Some companies, such as Health Check USA,urge the consumer to discuss the result with his/her physician.

. Twenty-seven percent of the companies submit the results to the client withthe option of consulting an expert.

. Nineteen percent of the companies submit the results to the client with con-sultation as a mandatory part of the process. For the company Psynomics forexample, which specializes in testing for neurological and related disorders,the consumer needs to provide the licensing number of his/her psychiatrist,since the result must be interpreted by a psychiatrist. For the companyKimball Genetics “the name, address, phone and fax number of a physicianare required in order to report your test results, samples submitted withouta physician indicated on the Test Request form cannot be processed.”(Kimballgenetics.com)

. For the other 14% of the companies, the website gives no clear information onwhether the submission of results is connected with consultation of an expert.

Some companies have different procedures, depending on the residence of theconsumer (in relation to state-specific regulations) or depending on the type oftest (in relation to the gravity of the disease to be tested for). The companyConsumer Genetics for example submits the results to the client without theoption of consulting an expert, except for residents in the states of New Yorkand California, who need a prescription from a medical doctor.

On the UK website of the company Genova Diagnostics, the following infor-mation is provided:

The majority of our test kits can be used in your own home, but some kits requiring ablood sample will need the assistance of your GP/practice nurse, or could be takenfrom one of our Phlebotomy centres. Please note that in accordance with UK Laboratoryregulations, results will be released to your referring practitioner where applicable. If youare not currently under the guidance of a practitioner, we are able to release the results toyou; however these should be taken to a practitioner for interpretation and support.

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The US website makes it clear that consulting an expert is a mandatory part of theprocess (“only available through licensed health care professional”).

At the company DNA Direct, all tests are first authorized by a medical doctor onthe basis of a pre-test questionnaire and consultation. For genetic tests for breastand ovarian cancer, infertility and recurrent pregnancy loss, a pre-test consultationis a mandatory part of the process. If the genetic testing is performed by DNADirect’s clinical services, post-test consultation is included in the service fees.

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 (whichwas highlighted by 71% of the websites), more detailed information about the qua-lification (CVs) of the management team and the scientific staff was presented on63% of the websites. Only two of the 38 companies’ websites mention a member-ship 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, SaluGen and SeqWright).

Two-thirds (26/38) of the companies highlight their scientific advisory board,while only seven (less than a fifth) mention an ethical advisory board as well ontheir website. A total of 39% of the companies mention privacy guidelines (dataprotection), 29% refer to the topic of informed consent,5 and 18% indicate otherethical guidelines.

Information on the accuracy of test data

Overall, 63% of the companies mention that they are certified by the US Food andDrug Administration (FDA) according to CLIA (Clinical Laboratory ImprovementAmendments) which defines quality standards for all laboratory testing to ensurethe accuracy, reliability and timeliness of patient test results (see http://www.fda.gov/CDRH/clia/).

Thirty-seven percent of the companies’ websites give specific information on theanalytical validity of the genetic tests offered (accuracy of the test identifying thebiomarker), 24% give information on the clinical validity (relationship betweenthe biomarker and the clinical status), and 16% give information on the clinicalutility (likelihood that the test will lead to an improved outcome). In 47% of thescanned websites, reference is made to expert knowledge and/or scientificevidence.

Information on genetic testing in general and test-specific information

On 61% of the assessed websites, information for lay people is given on thescientific basis of the genetic tests offered. Thirty-two percent of the companies’

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websites contain information on the subgroups of population suitable for testing orinformation on the question of when a genetic test can be useful and when not. Fiftypercent of the companies make reference to one or more scientific publications tosupport the validity of tests offered.

Of the 12 companies offering pharmacogenetic tests, four present general infor-mation on the topic of pharmacogenetics, the other eight do not explain what phar-macogenetics is. Of the 12 companies offering nutrigenetic tests, seven websitesgive general information on nutrigenetics.

A total of 53% of the websites give information on which SNPs are tested. Threeof the four companies that offer genome-wide SNP testing (23andMe, deCODE,Navigenics) deliver information on the methods used to calculate a compositerisk from different SNPs which influence the same condition.

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, DNA Direct, Eastern Biotech Lifesciences,Genelex, Genetic Health UK, Health Check USA, Kimball Genetics, Navigenics,Smart Genetics/HIV Mirror, Smart Genetics/ALZ Mirror), but in completelydifferent ways. Kimball Genetics, for example, delivers information on conse-quences in the form of a detailed report with genetic interpretation, recommen-dations and education, which is prepared by certified genetic counselors andgeneticists. At Genelex, counseling is offered for physicians and patients. DNADirect offers separate counseling for customers of 23andMe, before and after agenome-wide SNP scan, which is normally accompanied only by written infor-mation via internet access (a service which 23andMe does not provide itself).

Of the 10 companies that offer counseling, seven organize the genetic counselingwithin the company, and one explicitly outsources the counseling to another DCGTfirm (HealthCheckUSA to Kimball Genetics). Two websites are not clear on howthey organize the counseling (Eastern Biotech Lifesciences and Genetic Health UK).

Six of the 10 companies offer counseling before testing, and eight after testing.The counseling is performed via telephone in nine cases, and two companies offer itin an internet-based form.

Seven companies give information on the qualification of the counseling staff. Oftenit is not clear what is understood by the term “counseling.” Terms such as “board cer-tified counselor,” “genetic representative” and “genetic consultation expert” are used.

Two companies make reference to a professional code of practice (Smart Gen-etics/ALZ Mirror and DNA Direct). DNADirect and Smart Genetics/ALZMirror make reference to the US National Society of Genetic Counselors’ direct-to-consumer guidelines (which include informed consent, privacy guidelines, lab-oratory certification, etc.), and DNADirect also refers to the American College ofMedical Genetics statement on direct-to-consumer-genetics (with information onthe scientific evidence).

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Nineteen companies state explicitly that they do not offer counseling, fivewebsites give no information on this topic, and four websites are not clear. Thecompany Mygenome for example says: “Mygenome information services willprovide a simple interpretation of the test results and guidance on how to usethese results. We can also refer you to doctors who can provide appropriatecare” (http://www.mygenome.com).

Information on consequences and actions to be taken

Forty-seven percent of the companies’ websites present information on conse-quences and actions to be taken if the test result is positive, and 37% give infor-mation on the consequences and the actions to be taken if it is negative.

Some firms offer “specific” products related to the test results, especially dietarysupplements. Suracell for example promotes an “age-management program” whichconsists of taking one or more of their proprietary nutriceuticals and follow-upurine testing.

Information on the price of genetic testing

Seventy-one percent of the websites give clear information on the price of thegenetic tests, but the heterogeneity in price levels is difficult to interpret, as it isnot always clear which services are included in a particular testing offer. Pricesfor a genetic test for monogenetic diseases range from US$70 to US$4200, andfor multifactorial diseases from US$199 to US$3456. General SNP risk factortesting costs between US$199 and US$3456, pharmacogenetic tests costbetween US$175 and US$630, and nutrigenomic tests between US$99 andUS$625. The price for a total sequencing of the genome was US$156,900(Knome) or US$350,000 (GATC).6

Other companies are not very clear on the total price of the service. The companySaluGen for example asks customers to agree to a contract for a monthly supply ofGenoTrim (US$99), with a fee for early termination. Consumers who do not readthis carefully will have to pay US$99 every month.

Quality assessment of the information available on the websites

The general quality assessment of the information offered by the 38 web pages onthe basis of our set of 12 quality criteria revealed that none of the websites compliedwith all of the 12 quality criteria, and only one presented information on 11 items(only the information on analytical validity was missing). Six websites (18%) com-plied with eight criteria, and two with seven. Thus, only a quarter (9/38) compliedwith seven and more of the 12 quality criteria.

In turn, this means that three-quarters of the websites present information only onsix items or fewer. More than half of the websites (21/38, 55%) complied with four

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or fewer of the 12 quality criteria, and still one-fifth of the websites (8/38, 21%)complied with only two or fewer of the 12 quality criteria.

Thus, in general, the quality assessment shows that the majority of websiteschecked display fundamental information deficits. In the light of the possiblyfar-reaching consequences for consumers purchasing genetic tests via the internet,this seems to be a serious problem, which should be analyzed and probably con-tinuously monitored in the future. To be able to understand how the informationon these websites is interpreted by consumers, research could be conductedusing focus groups with lay people.

Conclusions

The findings presented above are based on a scan of a non-random sample of web-sites of companies offering DCGT for health, diet and lifestyle purposes. Thisapproach was based on the assumption that the website is an important informationsource for consumers and often the basis on which the consumer decides to order atest or not. From the results, we can conclude that the quality of the informationposted on websites is unsatisfactory for consumers to make a well-based decisionto make use of the services of the company. The transparency of the websites isusually very low, especially for information on analytical validity, clinical validityand clinical utility. The lack of information on the website is not compensated forby the offer of counseling. For the majority of the companies in this assessment, nogenetic counseling was offered at all.

The findings of our survey are very much in line with and support the appraisalof DCGT offers by public authorities, policy advisory bodies and expert groups thatdealt with the issue in recent years. There is no doubt that the increasing numbers ofDCGT offers showing up on the internet cause concern to experts, medical auth-orities and governmental bodies in Europe and in the US. In the US the AmericanCollege of Medical Genetics has advised the public to avoid “home DNA tests” asthey could be potentially harmful because of inappropriate test utilization, misinter-pretation of results and the absence of follow-up counseling (ACMG 2004). TheFederal Trade Commission together with the Food and Drug Administration andthe Centers for Disease Control in July 2006 released a consumer alert becauseof the lack of scientific validity in some gene tests offered (FTC 2006). AmongUS authorities there seems to be serious concern that DCGT may escape fromproper quality control and oversight (NHGRI 2004, Javitt and Hudson 2006,Smith 2006, SACGHS 2007). In Europe, DCGT has so far been constantlyobserved and discussed avidly in the UK, thanks to the initiative taken by theHuman Genetics Commission (HGC 2003, 2007). DCGT is closely watched bythe community of medical genetics and counselors, and the EU funded EurogentestNetwork of Excellence (www.eurogentest.org). In 2008, the German Society ofHuman Genetics (GfH) in an official opinion judged DCGT offers for SNPtesting as scientifically unsound and highlighted that genetic diagnostics in each

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case should be based on a profound medical consultation (GfH 2008). The Councilof Europe has also taken up the issue (COE 2008a, 2008b).7

As for instance has been shown by statements of representatives of companiesoffering DCGT (Sciona, Suracell, Genox, Genelex) at the US Senate Hearing onDCGT in 2006, the suppliers of DCGT understand their offers as a means togive consumers access to the newest achievements of human genome research;by this they claim to support progress in health care supply and to foster consumerautonomy by helping them make the long-term behavioral changes required foroptimizing health care (US Senate 2006).8

However, as the internet survey reveals, only the minority of DCGT offers meet aminimum set of quality criteria that can be regarded as necessary for ensuringadequate information and protection of customers against misleading interpretationof the need for and possible consequences of genetic testing. The majority ofobservers are concerned about:

(1) the often poor scientific evidence of the clinical validity and usefulness of thetesting offered (particularly for common diseases and lifestyle purposes);

(2) the poor quality of information offered to consumers and the problems ofproviding proper genetic counseling via the internet.

Poor scientific evidence for the clinical validity of tests

As is supported by our internet survey the majority of DCGT offers appear to be forsusceptibilities to common diseases (based merely on SNPs). This is plausible froman economic perspective, since the market potential for common diseases and life-style testing massively exceeds that for rare hereditary diseases and carrier testing.

Many experts regard most offers of testing for susceptibilities based on SNPs to bepointless from a scientific point of view, since the clinical validity of most of the testshas not (yet) been sufficiently proven (Frayling et al. 2007, Hogarth and Melzer 2007,Kroese et al. 2007, Morgan et al. 2007, Ropers and Ullmann 2007). However, sincerecommendations that can be drawn (and are drawn by providers) from positive testresults usually do not go beyond what a doctor would recommend to any patient asbeing good for his/her health (e.g. practice sports, avoid fatty foods), some consideroffering this directly to consumers to be harmless. Others, however, opine that eventhis kind of testing may harm clients. If results are negative, the client may gain thefalse impression of being safe with regard to developing a certain disease and mightnot see the need for adopting a healthy lifestyle; this would be totally misleading, asthe absence of “negative” SNPs tested does not imply an absence of the risk ofdeveloping e.g. high blood pressure from bad dietary habits, other behavioral andenvironmental factors or other (so far unknown) genetic traits.

There is obviously a problem with interpreting the results of susceptibility testscorrectly. It has been argued that problems with handling the interpretation ofresults are also reported from medical tests that are already offered for private

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(home) use, such as a test for osteoporosis. Also, in such cases the use of tests mightlead to false-positive or false-negative results, with adverse effects on the consu-mer’s health or psychological condition (e.g. causing serious concerns withoutreason). On the other hand, it can be argued that there are reasons to treatgenetic testing with special consideration and caution. Particularly in the case ofsusceptibility testing the relationship between a detected genetic trait and theonset of disease is complex (due to the interrelation of several genes and theenvironment), and thus the connection between the result of the test and the con-sequences for the person tested is not straightforward. In addition, the results ofgenetic testing may be relevant and have an impact not only on the individualtested but also on other family members (HGC 2003, p. 23).

The results of our internet survey provide the impression that most DCGT offersfail to provide proper information on the scientific evidence behind genetic testingservices offered to customers (clinical validity and utility). A recently publishedstudy on the scientific evidence available for offers of predictive testing forhealth risks and personalized health interventions from seven companies(Genelex, Genovations, Genosolutions, Integrative Genomics, Salugen, Scionaand Suracell) supports the notion of doubtful or even intentionally misleadinginformation being forwarded to consumers on the basis of genetic testing of suscep-tibilities to common diseases and dietary related health problems (Janssens et al.2008). In examining scientific meta-studies on the markers used by the sevencompanies, the study found no or only poor evidence for the clinical validity oftests. The study found the companies’ practice of combining tests for a largenumber of genetic variants into so-called “profiles” to be “. . . worrisome giventhe limited predictive value of results from testing single susceptibility geneswith small effects” (Janssens et al. 2008, p. 597). The study also found the compa-nies’ practice of using these profiles to tailor individualized nutrition supplementsand lifestyle recommendations to be “another intriguing puzzle” (p. 16), since trialsto test gene–diet interactions had thus far only yielded mainly inconclusive results.Moreover, for several genes tested it is known that they increase the risk forsome diseases and decrease it for others, thus the health effects of preventive inter-ventions on the basis of a related test may not be entirely beneficial (Janssens et al.2008, p. 598; see also results of a recent test of services offered by 23andMe andNavigenics: Ng et al. 2009).

Problems of providing proper genetic counseling

The salience of medical consultation and genetic counseling in the context ofgenetic testing and the sensitive nature of genetic testing from the perspectiveof the general public can be gleaned from the fact that two-thirds of respondentsto an opinion poll carried out on behalf of HGC in 2002 would also prefer toconsult a doctor for genetic testing that is not related to possible severe diseasesbut only to lifestyle aspects and paternity (HGC 2003, p. 24). Similar results

182 L. Hennen et al.

were found by an online survey of social networkers in the US recently (McGuireet al. 2009). The main concern regarding DCGT is obviously that the servicesoffered cannot live up to the high professional standards of medical and geneticconsultation required (by statutory regulations or professional guidelines) fornormal genetic testing in the context of genetic counseling. It can of course beargued that DCGT offers support free access and free choice for consumers bybroadening the scope of options for genetic testing. However, at the core of “freechoice” is good information to provide informed consent from the customer.This seems to be far from being guaranteed when there is an economic interestin “convincing” a customer that he or she will benefit from testing. According toour internet survey, most companies offering genetic testing services via the inter-net do not include genetic counseling at all in their services. Only a few urge cus-tomers to involve an expert before purchasing a gene test, and “counseling” in mostcases only is provided as written information via mail or via web-log.

The information offered via the web is often very poor and does not comply withprofessional standards of counseling as the results from our quality criteria assess-ment reveal. Only one company complied with 11 of our 12 information qualitycriteria. Moreover, during the experts’ workshop, it was emphasized that irrespec-tive of the quality of information on single topics, a DCGT offer can be senseless oreven harmful if only one or two relevant points are missing (e.g. on clinical validityand clinical utility). Thus, the presence of information on six, seven or eight topicsis hard to interpret in “positive” terms – but the absence of seven, nine or even 11“quality criteria” must certainly be interpreted “negatively.”

When communication and “counseling” are only provided via mail or web-exchange, it is almost impossible to make sure that the information given hasbeen properly understood by the customer. In testing for complex and serious dis-eases, personal communication is needed about the individual’s situation, relativesthat may have to be informed about the test result, and information on possibletreatment or preventive measures. The confidentiality and empathy requiredwould probably not be possible via written information and communication(HGC 2003, p. 28f.). This, according to HGC, does not necessarily imply thatthe involvement of a doctor is crucial. What is important, however, is the extentto which the setting in which the service is offered and applied allows (or suits) con-sideration of high-level professional standards. Offers via the internet can thus becriticized for taking place not in a context defined by medical consultation in thebest interests of the patient/client, but according to a commercial principle,“where the health care professional was simply facilitating a transaction for a kitor self-testing mail order service” (HGC 2003, p. 25).

Notes

1. The comments of two anonymous referees have been very helpful to improve the quality of thepaper. However, the authors regret that they were not able to follow all advice given by the referees.

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It was impossible to discern between information given for different types of tests, as requested byone referee. Information provided by the websites before carrying out a test, which was the objectof our survey, usually is not differentiated for different test types.

Despite the fact that tests for monogenetic diseases are offered by a few websites and many web-sites offer a mix of different test types to consumers, susceptibility testing based on SNPs makesup the center of the DCGT business model. Our arguments regarding bad quality of consumerinformation offered at the websites and problems of DCGT thus apply mainly for susceptibilitytesting. We are confident that this is made clear enough in our concluding discussion.

We could not bring ourselves to exclude those companies that (meanwhile) claim not to offer ser-vices for health purposes from our analysis. The fact that several companies in their terms ofservice claim not to offer services for health purposes confirms our findings because the appear-ance of their web offers tells the opposite story to the potential customer. We regard these claimsto be a central part of the problem as a strategy to move out of the focus of governmentaloversight.

2. The following experts participated in the meeting: Pascal Borry, University of Leuven; StuartHogarth, University of Loughborough; Heidi Howard, McGill University Montreal; AlastairKent, Genetic Interest Group; Ulf Kristoffersson, Lund University Hospital; Peter Pohl, GATCBiotech; Helen Wallace, Gene Watch UK.

3. The full report of the project is available at the website of the European Parliament’s Science andTechnology Options Assessment Panel (STOA 2008): http://www.europarl.europa.eu/stoa/default_en.htm.

4. An expert is interpreted as a health care professional and not necessarily as a genetic counselor.5. Within the scope of this study, we did not examine to what exactly the consumer gives his/her

informed consent.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), because thechemical reagents needed alone cost more than the offered price.

7. Other official bodies that have discussed the issue of DCGT are the American MedicalAssociation, the European Group on Ethics, the Belgian National Consultative Committee onBioethics and the French National Consultative Committee on Bioethics.

8. 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 researchand educational use only but not medical advice (“not intended to be used for any diagnosticpurpose and is not a substitute for professional medical advice”: www.23andMe.com, “termsof service” as of 3 November 2008). It is however not visible that 23andMe has excluded testsfor SNPs indicating health-related risks from its services.

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