Direct-to-Consumer Whole Genome Scanning Services:
Implications for consumer-patients and their health care providersThe past year has marked yet another milestone in human genomics—the introductionof Direct-to-consumer (DTC) personalized genome services. To date, four companieshave made their services available directly to consumers via the Internet, including23andMe, deCODEme, and Navigenics, which offer whole genome scans for $985 to$2,500 and the more elaborate service, Knome, which offers full genome sequencing for$350,000.These companies provide customers with an analysis of their individual genomicinformation. These services offer consumers the possibility of learning their individualgenetic risk factors for a range of diseases although each company puts differentemphases on using genome scans for making diagnostic recommendations for healthand lifestyle behaviors, genetic ancestry tracing, tracing heritability patterns, and socialnetworking. Unlike clinical genetic tests which need to be ordered by a physician in amedical context, whole genome scans are truly available direct-to-consumer as they canbe ordered straight from the Internet by individuals interested in purchasing the service.The commercialization of these services has been controversial not least because theyhave raised a host of ethical, legal, medical, and social concerns regarding the potentialimpact of personalized genomics on a variety of constituencies with differingperspectives.While advertisements for DTC genetic testing first appeared on the Internet in the early2000s (Gollust et al., 2002; Williams-Jones 2003), the recent expansion of the market toinclude whole genome scanning services has attracted a great deal of attention in withinbiomedical, scientific and political sectors. With the first wave of DTC genetic tests theAmerican College of Medical Genetics (2004) issued a statement recommending thatgenetic tests should only administered to the public by qualified healthcare providers,that healthcare providers should both order tests and interpret the results for patients,and that genetic counseling should be available to assess the medical significance ofgenetic testing. More recently, the American Society for Human Genetics and theNational Coalition for Health Professional Education in Genetics have raised concernsabout the need for healthcare provider education about the potential benefits andlimitations of the full range of DTC genetic services that can be ordered over the Internet(Hudson, Javitt et al. 2007, McInerney 2008), which have stressed that the need forprovider education will only grow as the market expands. In the policy sector, the statesof New York and California have sanctioned some companies providing DTC geneticand genomic services (including 23andMe and Navigenics) for noncompliance with stateregulations for offering and administering genetic tests (Couzin 2008), and the federalSecretary’s Advisory Committee on Health, Genetics and Society has set personalgenomics as their main priority for the coming year (Jones 2008). An additional area ofpolicy-related concerns pertains to the lack of federal regulation of DTC genetic andgenomic services. While calls have been made to develop quality assurance standardsand regulations regarding the accuracy, precision and validity of genetic tests andgenetic laboratory services (Khoury et al, 2000), many DTC genetic and genomicservices fall outside the jurisdiction of the Clinical Laboratory Improvement Act whichprovides a framework for overseeing clinical genetic testing services and the Food andDrug Administration which reviews genetic test kits for analytic and clinical validity (Javitt& Hudson, 2007). It has been argued that the uptake of genetic research findings by for-profit entities to market directly to consumers further complicates regulatory challenges
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because these companies are not required (and may not have any incentive) to ensurethat their services are accurate, clinically validated, or reliable (Offit 2008). At this pointthe clinical utility of whole genome scans has also been met with skepticism by scientificand medical professionals (Hunter, Khoury and Drazen 2008; Janssens et al. 2008).Lastly, while DTC marketing materials currently present whole genome scans more asan informational products than as personalized medical services, the companies clearlyprovide a great deal of health-related information to their clients, and the companywebsites encourage clients to pose questions and concerns about their results to theirhealthcare providers. A recent commentary in the
Journal of the American Medical Association
projected that "health professionals are now faced with the prospect of theirpatients coming to the office, DNA profile in hand, asking for preventive managementtailored to their specific disease risks"(Offit 2008, 1353). While this is a speculation, thisraises questions regarding how consumers of whole genome scans will respond to theresults of their scans, and if they will call upon their healthcare providers to help interpretresults and develop preventative healthcare plans based on genomic risk assessments.The need for empirical data assessing the uptake of whole genome scans is paramount.To date very little is known about who has and who will utilize whole genome scanningservices and what has motivated them to utilize a personalized genome service To movetowards filling the knowledge gap in the context in which whole genome scanning isemergent,, this study aims to address the potential impact of whole genome scanningservices for early adopters of the technology, considering implications for consumersand broader ethical, legal and social implications of the proliferation of these services.Second, since consumer-patients have direct access to whole genome scans via theInternet, this raises the potential for access to personalized genetic information withoutadequate counseling and interpretation of results. This study also aims to assess if andhow consumers of whole genome scans intend to use the results for medical purposesto inform their healthcare decisions.Our research methodology will involve in-depth interviews with approximately 30 early-adopter/consumers of such tests to assess their reasons for utilizing a whole genomescanning service, A targeted sampling technique will be employed to recruit participantsfor this study, targeting individuals who write about their experiences with these serviceson weblogs, who have attended professional conferences highlighting DTC genomescans, and through referrals from individual early adopters. If potential participants areinterested in participating in the study, we will either snail mail or email (depending onwhich they prefer) a copy of the informed consent information sheet and will bescheduled for a phone interview at a time convenient for them. Before beginning theinterview, the interviewer will review the information sheet with each participant andobtain their verbal consent to agree to participate. At that point the recorder will beturned on. A data file will be kept indicating who has given their verbal consent toparticipate. The semi-structured interview will last up to one hour. Questions guidingthe interview will address how the participant learned of whole genome scanningservices, why they were interested in trying the technology, how they feel about theresults that they have received, what they have done with the results, and if and howthey have used the results to inform their individual healthcare decisions.The overall objective of this study is to assess individuals’ reasons for using Direct toConsumer genome scanning, and what they understand to be the benefits and risks of
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this technology, both for individuals and society. This research will lead to a betterunderstanding of this new genomic technology from the perspective of the individuals’who have used it, thus the results of this research will be useful in understanding whyindividuals pursue genome scanning and the experiences they’ve had during and afterthe procedure. This research may help others decide whether or not to use they want touse this service themselves, and this research may also be helpful in the social, ethicaland policy debates over the regulation of Direct to Consumer genome scans.ReferencesAmerican College of Medical Genetics. (2004). ACMG statement on direct-to-consumergenetic testing.
Genetics in Medicine, 6
(1), 60.Couzin, J. (2008). Genetic test kits under fire.
Science, 320
, 1577.Gollust, S. E., Hull, S. C., & Wilfond, B. S. (2002). Limitations of Direct-to-ConsumerAdvertising for Clinical Genetic Testing.
Journal of the American Medical Association, 288
(14), 1762-1767.Hudson, K., Javitt, G., Burke, W., & Byers, P. (2007). ASHG Statement on Direct-to-Consumer Genetic Testing in the United States.
The American Journal of Human Genetics, 81
, 635-637.Hunter, D. J., Khoury, M. J., & Drazen, J. M. (2008). Letting the genome out of the bottle- will we get our wish?
The New England Journal of Medicine, 358
(2), 105-107.Janssens, A., Gwinn, M., Bradley, L., Oostra, B., van Duijn, C., & Khoury, M. (2008). ACritical Appraisal of the Scientific Basis of Commercial Genomic Profiles Used toAssess Health Risks and Personalize Health Interventions.
The American Journal of Human Genetics, 82
(3), 593-599.Javitt, G. H., & Hudson, K. (2007). The right prescription for personalized geneticmedicine.
Personalized Medicine, 4
(2), 115-118.Jones, M. (2008). SACGHS Task Force Sees Consumer Genomics as 'Number OnePriority',
GenomeWeb Daily News
.Khoury, M. J., Burke, W., & Thomson, E. J. (2000). Genetics and Public Health: AFramework for the Integration of Human Genetics in Public Health Practice. In M.J. Khoury, W. Burke & E. J. Thomson (Eds.),
Using Genetic Information to Improve Health and Prevent Disease
. Oxford: Oxford University Press.McInerney, J. (2008). Implications of DTC genetic test services for providers,
Fourth Meeting of the CEERs Investigators
. Bethesda, MD.Offit, K. (2008). Genomic Profiles for Disease Risk.
Journal of the American Medical Association, 299
(11), 1353-1355.Williams-Jones, B. (2003). Where There's a Web, There's a Way: Commercial GeneticTesting and the Internet.
Community Genetics, 6
, 46-57.
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