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A Data-Driven Discussion of DTC DNA Ancestry Tests

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A Data-Driven Discussion of DTC DNA Ancestry Tests ORIGINAL RESEARCH ARTICLE ©American College of Medical Genetics and Genomics Tilting at windmills no longer: a data-driven discussion of DTC DNA ancestry tests Jennifer K. Wagner, JD, PhD,1 Jill D. Cooper, MPH,2 Rene Sterling, PhD, MHA3 and Charmaine D. Royal, MS, PhD2 Purpose: Discussions about direct-to-consumer (DTC) DNA ances- Results: Here, we present a wealth of data, including an updated try tests have to date been based primarily on conjectures, speculation, directory of companies, marketing slogans, product types and and anecdotes, despite the industry being more than a decade old. names, range of prices, diversity of reporting and representing Representative, empirical data on consumer characteristics; motiva- results, noted benefits and limitations of testing, and a host of tions and expectations for testing; intended uses for the information; website practices. understanding of results; and behavioral and psychological reactions Conclusion: The tremendous diversity of tests, information, and to the tests are absent. Although the 2010 American Society of Human practices of companies in the DNA ancestry sector should be consid- Genetics white paper clarifies the number and some general charac- ered when policies for best practice guidelines or regulatory oversight teristics of companies marketing and selling DNA ancestry tests, addi- are being developed. tional data about the industry’s practices have been unavailable. Genet Med 2012:14(6):586–593 Methods: To promote a data-driven discussion of the DNA ancestry testing industry, we conducted a systematic investigation to identify Key Words: direct-to-consumer; DNA ancestry; genetic ancestry; companies selling DNA ancestry tests and conducted an empiri- genomic ancestry cal study of the industry’s practices using data collected from each company’s website. INTRODUCTION (ii) nondisclosure of the actual companies investigated in pub- The marketing and sale of genetic tests direct-to-consumers lished content analyses (e.g., the study reported in ref. 4 per- (DTCs) have stirred much controversy. Proponents of DTC formed content analysis of 29 unidentified companies, making genetic testing have argued that individuals—not just patients— it difficult to verify findings). have a right to their genetic and genomic information.1 Many Expert discussions and formal reviews of the DTC genetic opponents have argued that the DTC genetic testing industry testing industry have generally omitted an entire sector of the fails to provide consumers with adequate information about industry: companies that offer DNA ancestry tests.4,8–10 This is the tests, data privacy protections, and counseling services.2,3 typically done on the justification that ancestry tests are non- Recent reports found that the DTC genetic testing websites medical. Although no empirical investigations of the DNA are designed at inappropriate reading levels and generally lack ancestry testing websites or of corporate practices have been user-friendly tools.4 Reviews of corporate practices in the per- published to date, many scholars have discussed the scientific, sonal genomics industry to date have, however, been limited in ethical, legal, and social implications of DNA ancestry infor- scope, often narrowing their focus to health-related testing3–5 or mation.11–36 The DNA ancestry testing industry, which markets nutrigenomics testing.6 The tabulation of companies providing and sells a variety of genetic and genomic ancestry tests DTC, is DTC genetic testing has been challenging, as conflicting infor- now 11 years old. Family Tree DNA offered the first DTC genetic mation in the literature2,3,5,7 demonstrates. At least two sources ancestry test in 2000, and DNAPrint Genomics offered the first of confusion exist in the literature: (i) inconsistent or evolv- genomic ancestry test in 2002. The industry grew to 11 com- ing definitions of DTC (e.g., a website may market tests DTC panies by 2004 (ref. 16) and to 14 companies by 2008 (ref. 22). without actually selling them or a company such as GeneDx By 2010, there were 38 companies selling a wide variety of might not view itself as having offered or as currently offering DNA ancestry products, packages, and services.33,34 More than genetic tests DTC but might nevertheless be characterized by 1 million individuals have reportedly purchased the tests since others as doing so;2 Sherry Bale, president and clinical director 2002 (ref. 37), although the accuracy of this figure is unknown. of GeneDx, personal communication, 21 September 2010) and The characteristics of the individuals purchasing these tests 1Center for the Integration of Genetic Healthcare Technologies, University of Pennsylvania, Philadelphia, Pennsylvania, USA; 2Institute for Genome Sciences & Policy, Duke University, Durham, North Carolina, USA; 3Center for Genomics and Society, University of North Carolina, Chapel Hill, North Carolina, USA. Correspondence: Charmaine D. Royal ([email protected]) Submitted 15 September 2011; accepted 16 December 2011; advance online publication 1 March 2012. doi:10.1038/gim.2011.77 586 Volume 14 | Number 6 | June 2012 | GENETICS in MEDICINE DNA ancestry tests | WAGNER et al ORIGINAL RESEARCH ARTICLE are also not known with any level of certainty. Moreover, our ones later found to have dissolved) under their domain names. knowledge of the companies of the industry, products offered, Use of this software enabled us to create a fixed cross-section of advertising claims made, and representation of results reported the industry by archiving all components of a website (pages, remains rudimentary and largely anecdotal. images, links, and objects) while maintaining the referential integ- Given the acknowledged wide variability of business practices rity among all sections to allow for navigation through the web- of DTC genetic testing companies4 and the recognized role that site even when offline or at a later date. Only links with the same the particular design, marketing, and delivery of a test (i.e., the domain name were archived for our analysis (that is, if clicking on sociotechnical architecture) plays in structuring its implica- a word, image, or link led the consumer away from the main web- tions,38 it is unfortunate that no empirical data are available for site and to a different site domain, that site was not archived). this entire sector of the DTC genetic testing industry. The gen- Data from the archived websites were collected for content eration of an updated directory of DNA ancestry testing compa- analysis, and the sites were coded independently. Content nies by the American Society of Human Genetics in 2010 was an analysis included the following variables of interest: organiza- important first step toward enhancing our understanding of this tion characteristics (start date, geographic location, company’s industry.33 Here, we build on that work and provide the first sys- product orientation, tag line/motto, laboratory accreditation, tematic review of this sector of the DTC genetic testing industry. privacy policies, other DNA tests offered); product character- istics (ancestry tests offered, price, discounts mentioned, type MATERIALS AND METHODS of specimen collected, type of analysis performed, educational For the initial identification of DNA ancestry testing compa- resources offered); general discussion of benefits, limitations, nies, we employed methods described in detail elsewhere.6 and risks; and materials provided with the ancestry test. To We conducted a comprehensive search for DNA ancestry compare products sold internationally, all prices were con- testing companies using the Internet, news media, and other verted to US dollars ($) using currency conversion rates as of popular press, employing Google, Yahoo, and Lexis/Nexis 18 April 2010 (which most closely approximate the value in US Academic. Terms related to genetics, ancestry, and testing dollars that would have applied at the time the websites were were combined to form three-word search strings for use in archived). As shown in Table 1, all website domains for active each of the search engines. Seven unique search strings were companies were searched again on 20 April 2011 to facilitate used: DNA Ancestry Test Service Profile Scan, Mitochondrial the most accurate reporting of the industry. All investigators Test Service Profile Scan, Y-Chromosome Test Service Profile participated in the development of the coding scheme; how- Scan, Gene Ethnic Race Test Service Profile Scan, Heritage ever, for coding consistency, only one researcher performed the Lineage Genealogy Test Service Profile, Ancestry Testing, and coding and content analysis of the data. The investigative team Genealogy Profile. met regularly to discuss the coding activities and data analysis Upon performing a search with these search strings in Google and resolve discrepancies. Data were collected and analyzed in and Yahoo, the first three pages of search results were printed. Microsoft Access 2007. There were 10 uniform record locators (URLs) per page for each To complement the content analysis of the websites sell- of the seven search term strings used. A total of 420 URLs were ing DNA ancestry tests, we sought input directly from the then followed to identify companies selling DTC DNA ances- DNA ancestry testing companies on their corporate practices try tests. All functional websites that were in English and that and perspectives of the industry. To do so, we designed and appeared to be selling a genetic ancestry test were
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