Skip to main content
NCBI home page
Journal of Community Genetics logoLink to Journal of Community Genetics
. 2022 Feb 16;13(2):155–170. doi: 10.1007/s12687-022-00582-3

Considerations for developing regulations for direct-to-consumer genetic testing: a scoping review using the 3-I framework

Alexandra Cernat 1,2, Naazish S Bashir 2, Wendy J Ungar 1,2,✉
PMCID: PMC8941003  PMID: 35171498

Abstract

Direct-to-consumer (DTC) genetic testing exists largely outside of any regulatory schemes, and studies providing a comprehensive overview of the ethical, social, legal, and technological considerations for regulating these types of technologies are lacking. This paper uses the 3-I framework for policy analysis to analyze the ideas, interests, and institutions relevant to policy development for DTC genetic testing in North America and internationally. A scoping review was conducted. Citation databases were searched for papers addressing the ethical, social, legal, and technological implications of DTC genetic testing; stakeholder perspectives on and experiences with DTC genetic testing; or the effect of such testing on the healthcare system. Ninety-nine publications, organizational reports, governmental documents, or pieces of legislation were included. The ideas included are autonomy, informed decision making, privacy, and clinical validity and utility. The interests discussed are those of the public and healthcare providers. The institutions included are regulatory organizations such as the Food and Drug Administration in the United States, laws governing the implementation or delivery of genetic testing in general, and legislation created to protect against genetic discrimination. This analysis clarifies the ethical, social, legal, and technological issues of DTC genetic testing regulation. This information can be used by policy makers to develop or strengthen regulations for DTC genetic testing such as requiring an assessment of the clinical validity of tests before they become publicly available, controlling how tests are marketed, and stipulating requirements for healthcare provider involvement and informed consent.

Supplementary Information

The online version contains supplementary material available at 10.1007/s12687-022-00582-3.

Keywords: Direct-to-consumer screening and testing, Genetic testing, Health policy, Health services research, Review

Introduction

Direct-to-consumer (DTC) genetic tests are DNA tests marketed or sold directly to individuals by commercial companies rather than by referral from physicians. Most companies are based in the United States (US) and offer testing for health-related traits such as risk of type 2 diabetes and non-health-related traits like eye colour (23andMe 2021; Howard and Borry 2012).

Proponents of DTC genetic testing assert it facilitates greater consumer autonomy and mobilizes people to make positive lifestyle changes (Bollinger et al. 2013; Fukuda and Takada 2018; Howard and Borry 2012). It has been argued that individuals have a right to their genetic information and that this information may be better protected from insurers and employers when consumers circumvent the traditional healthcare system (Kalokairinou et al. 2018). Critics, however, are concerned that consumers may receive inadequate information prior to testing, resulting in an erosion of informed decision making (Hogarth et al. 2008). This concern stems from observed poor clinical validity and utility, and the recommendation that results be confirmed with medical grade testing before any healthcare decisions are made (Covolo et al. 2015; Horton et al. 2019). In addition, consumers may misinterpret test results leading to unnecessary stress or unnecessary visits to healthcare providers (HCPs) (Giovanni et al. 2010; Howard and Borry 2012).

While the US Food and Drug Administration (FDA) exerts some regulatory oversight over domestic DTC genetic testing, in many countries such as Canada, there are no regulations specific to this type of testing (CMA 2017; Phillips 2016). This exacerbates concerns that tests that do not meet domestic regulatory requirements may be accessible elsewhere. For example, when the FDA approved 23andMe, Inc. to provide health-related testing in 2015, they were authorized only to provide carrier testing for 36 inherited conditions and risk estimation for an additional 10 diseases to American consumers (CADTH 2017; Fukuda and Takada 2018). At the same time, lack of regulation in Canada meant results for over 100 conditions were available to Canadian consumers (CADTH 2017; Fukuda and Takada 2018).

Previous studies have explored laws related to genetics or DTC testing in Europe (Borry et al. 2012; Kalokairinou et al. 2018), showing varying approaches to regulation. France, Germany, and Slovenia have banned DTC genetic testing, but Luxembourg, Poland, and Romania do not have genetic testing legislation (Kalokairinou et al. 2018). Twenty papers explored perspectives of the public and HCPs in Canada and the US, four health resource use, and four consumer behavior (Table 1). However, to-date there has been little synthesis of the ethical, social, legal, or technological aspects of DTC genetic testing relevant to regulation for multiple jurisdictions. This is important as internet-based DTC genetic tests are accessible from anywhere, regardless of where consumers are located, and jurisdictions that do not currently regulate this type of testing can learn from regulatory approaches elsewhere. The analytical 3-I framework for policy analysis (Bashir and Ungar 2015; Hall 1997; Heclo 1994) was chosen to address this gap. The 3 “I”’s within the 3-I framework are the ideas, interests, and institutions that form the three main elements or explanatory variables of any policy. This framework has been used in policy research to facilitate an understanding of why a policy was created in a particular manner, or why enacting change may be more or less challenging (Deber 2014; Shearer et al. 2016). Ideas are the values and beliefs of stakeholders and the evidence and knowledge surrounding an issue. Interests refer to the agendas of various stakeholders. Institutions are the current and past policies, laws, regulations, governing structures, and policy networks that influence policy development. While there is some understanding of the ethical, social, legal, and technological issues that surround DTC genetic testing, these have largely been considered in isolation. Application of the 3-I framework allows for these aspects to be considered simultaneously and facilitates a more comprehensive understanding of the contexts in which regulation and policy for this technology are developed and implemented. Furthermore, stakeholders’ perspectives sometimes diverge from concerns identified in the literature on ethical and social implications of ethically contentious technologies (Vanstone et al. 2018). Simultaneous discussion of relevant ideas, interests, and institutions through the use of the 3-I framework allows for examination of the ethical, social, legal, and technological considerations concerning DTC genetic testing that have been previously highlighted, as well as an understanding of which aspects of this technology are the focus for stakeholders and policy makers. The objective was to perform a scoping review using the 3-I framework to enable a better understanding of the policy issues pertaining to regulation of DTC genetic testing across multiple jurisdictions.

Table 1.

All studies and documents conducted in or relevant to the United States or Canada included in this scoping literature review, and the ideas, interests, or institutions they discuss

Author (year) Type of publication or document Study location(s), jurisdiction(s) discussed, or relevant context(s) Ideas Interests Institutions
Autonomy and welfarism Informed decision-making and consent Privacy Clinical validity and utility The public Health care providers Regulatory organizations Laws governing genetic testing in general Legislation against genetic discrimination
Abul-Husn et al. (2014) Review United States X
Agurs-Collins et al. (2015) Cohort study United States X
Allen et al. (2018) Cohort study United States X X
ACOGa Committee on Genetics (2017) Professional college opinion United States X
Bair (2012) Review—legal scholarship United States X X X X
Bansback et al. (2012) Cohort study Canada X
Baptista et al. (2016) Cohort study United States X X X
Baudhuin (2014) Opinion United States X
Bernhardt et al. (2012) Cohort study United States X X
Bloss et al. (2013) Cohort study United States X X
Boeldt et al. (2015) Cohort study United States X
Bollinger et al. (2013) Cohort study United States X X
Buitendijk et al. (2014) Evaluation of genetic test methodology DTCb genetic testing companies evaluated were based in Iceland and the United States X
CADTHc (2017) Organizational newsletter Canada X
CAGCd (2017) Organizational information sheet on the GNAe Canada X
Canadian Government (2017) Legislation (GNAe) Canada X
Carere et al. (2017) Cohort study United States X
Caulfield and McGuire (2012) Review European Union, the United Kingdom, and the United States X
CCMGf (2015) Official letter from the CCMGf to the Honourable Rosa Ambrose, Member of Parliament Canada X
Chokoshvili et al. (2017) Review Europe and the United States X X
Christofides and O’Doherty (2016) Website content analysis and cohort study Canada X X
CMAg (2017) Organizational policy on DTCb testing Canada X
Covolo et al. (2015) Review Australia, Canada, Greece, the Netherlands, Puerto Rico, Switzerland, the United Kingdom, and the United States X
Curnutte and Testa (2012) Analysis of websites, policy documents, and primary interviews United States X
FDAh (2017) Organizational report of new regulation United States X
Francke et al. (2013) Cohort study United States X X
Fukuda and Takada (2018) Review Austria, Belgium, Canada, France, Germany, Japan, Portugal, South Korea, Switzerland, the United Kingdom, and the United States X X
Giovanni et al. (2010) Cohort study United States X
Goldsmith et al. (2012) Review Australia, Belgium, Canada, the Netherlands, the United Kingdom, and the United States X
Goldsmith et al. (2013) Review Australia, Greece, Japan, and the United States X
Gollust et al. (2017) Cohort study United States X
Gray et al. (2012) Cohort study United States X
Guerrini et al. (2018) Cohort study United States X
Haga et al. (2019) Cohort study United States X
Hazel and Slobogin (2018) Content analysis of DTCb genetic testing company privacy policies DTCb genetic testing companies evaluated were based in the United States X X
Howard and Borry (2012) Review Canada, Europe, New Zealand, and the United States X X
Joly et al. (2017) Cohort study Worldwide X
Kalf et al. (2014) Modelling study United States X
Kaphingst et al. (2012) Cohort study United States X
Kaufman et al. (2012) Cohort study United States X X
Koeller et al. (2017) Cohort study United States X X
Laestadius et al. (2017) Analysis of DTCb genetic testing company websites DTCb genetic testing companies evaluated were based in Canada, Switzerland, the United Kingdom, and the United States X X
Landry et al. (2017) Cohort study United States X
Leighton et al. (2012) Cohort study United States X X
Lynch et al. (2011) Content analysis of DTCb genetic testing news coverage United States X
Mathews et al. (2012) Commentary DTCb genetic testing companies discussed were based in Australia, Iceland, Slovenia, and the United States X
Matthewman (1984) Review—legal scholarship United States X
McGowan et al. (2010) Cohort study Australia, Canada, Hungary, and the United States X
McGrath et al. (2016) Cohort study United States X
Nielsen et al. (2014) Randomized controlled trial United States X
Nielsen et al. (2017) Cohort study United States X
Niemiec et al. (2016) Content analysis of DTCb genetic testing company websites DTCb genetic testing companies evaluated were based in Canada and the United States X
Niemiec and Howard (2016) Content analysis of DTCb genetic testing company websites DTCb genetic testing companies evaluated were based in Canada and the United States X X
Ostergren et al. (2015) Cohort study United States X
Palmer (2012) Review—legal scholarship United States X
Phillips (2016) Review Over 100 DTCb genetic testing companies were identified, the majority based in the United States X X
Phillips (2018) Commentary United States X
Powell et al. (2012) Cohort study United States X
Reid et al. (2012) Cohort study United States X
Roberts and Ostergren (2013) Review Complete list of locations for studies included in review was not provided, but among them were Australia, New Zealand, and the United States X
Roberts et al. (2017) Cohort study United States X
Sanfilippo et al. (2015) Review DTCb genetic testing companies discussed were based in Australia, Canada, Estonia, Greece, Iceland, Iceland, Singapore, Slovenia, the United Kingdom, and the United States X
Singleton et al. (2012) Content analysis of DTCb genetic testing company websites Unable to determine location of all DTCb genetic testing companies evaluated, but headquarters included Iceland and the United States X
Skirton et al. (2012) Review Austria, Belgium, Europe, Portugal, the United Kingdom, and the United States X X
Spector-Bagdady (2015) Review—legal scholarship United States X
Starkweather et al. (2018) Organizational position statement United States X
Tandy-Connor et al. (2018) Confirmation of DTCb genetic testing results with clinical testing Clinical diagnostic laboratory was located in the United States, but locations where DTCb genetic testing occurred were not provided X
United States Government (2008) Legislation (GINAi) United States X
Van Der Wouden et al. (2016) Cohort study United States X
Wasson et al. (2013) Cohort study United States X X X X
Total NA NA 15 24 10 16 11 10 2 2 5
Open in a new tab

aACOG American College of Obstetricians and Gynecologists, bDTC direct-to-consumer, cCADTH Canadian Agency for Drugs and Technologies in Health, dCAGC Canadian Association of Genetic Counsellors, eGNA Genetic Non-Discrimination Act, fCCMG Canadian College of Medical Geneticists, gCMA Canadian Medical Association, hFDA Food and Drug Administration, iGINA Genetic Information Nondiscrimination Act

Methods

A scoping review of literature and legislation was performed to determine the current regulatory landscape of DTC genetic testing to identify issues relevant to future policy development and implementation. The review was guided by the framework described by Arksey and O’Malley (2005).

Search strategy, eligibility, and screening

Ovid MEDLINE and Embase were searched from January 1, 2008, to June 30, 2020, for records addressing any idea, interest, or institution pertaining to health-related DTC genetic testing using keywords including ethics; bioethical issues; personal autonomy; informed consent; privacy; clinical utility; usefulness; legislation; Health Canada; genetic non-discrimination act; regulation; health knowledge, attitudes, and practice; consumer behavior; patient preference; and attitude of health personnel (Online Resources 1 and 2). A manual search of Google Scholar using the same keywords was conducted to identify additional relevant literature. Websites of the Canadian College of Medical Genetics (CCMG) and the American College of Obstetricians and Gynecologists (ACOG), health technology assessment agencies such as the Canadian Agency for Drugs and Technologies in Health (CADTH), and Canadian and US government agencies were searched to retrieve documents related to policy or legislation.

Titles and abstracts were assessed for relevance by one reviewer. Full-text articles were obtained for relevant records and were reviewed for eligibility by the same reviewer. Articles in English from any global jurisdiction addressing the ethical, social, and legal implications of DTC genetic testing; consumer or HCP perspectives on, preferences for, or experiences with DTC genetic testing; or the effect of such testing on the healthcare system were eligible. Primary research articles, reviews, editorials or commentaries, and clinical practice guidelines or articles making practice recommendations were eligible.

Analysis

One researcher performed data charting, organization, and analysis of included references using NVivo®12 software. A staged coding process similar to grounded theory (Charmaz 2006) was used for analysis whereby findings from multiple articles were separated into their conceptual components, summarized, and re-grouped based on their thematic relationships. Concepts judged to have ethical, legal, social, or technological implications were sought, but these did not have to be explicitly identified as such to be included. For example, discussions about consumers potentially learning unexpected information or how DTC genetic testing company websites having unclear terms of service agreements were highlighted and described as evidence of inadequate or insufficient information provided to the public. This was considered ethically relevant as it relates to informed decision making and consent. Identification of ethical, legal, social, and technological considerations was informed through familiarity with the broad literature regarding implications of genetic testing. Preliminary categories were formed based on the prevalence of information within these concepts across multiple studies. Broader themes emerged from these preliminary categories, and the 3-I framework was used to group them together as ideas, interests, or institutions relevant to the regulation of DTC genetic testing.

Results

Titles and abstracts of 747 publications were retrieved, and 140 full-text articles were reviewed. Ninety-nine publications, reports, governmental documents, or pieces of legislation were included (Fig. 1). The US or Canada was featured in 70 documents (Table 1). Four ideas, the interests of two stakeholders, and three types of institutions are described (Fig. 2). The remaining 29 international documents are presented in Online Resource 3. The analytic process, showing how concepts were categorized, is shown in Online Resource 4.

Fig. 1.

Fig. 1

Open in a new tab

PRISMA flow diagram

Fig. 2.

Fig. 2

Open in a new tab

The ideas, interests, and institutions relevant to regulation of direct-to-consumer genetic testing

Ideas

Four overarching themes emerged through the staged coding process and were grouped together as ideas relevant to DTC genetic testing policy and regulation: (a) autonomy and welfarism, (b) informed decision making and consent, (c) privacy, and (d) clinical validity and utility. Of the 99 documents included, 22 discussed autonomy and welfarism, 30 addressed informed decision making and consent, 13 addressed privacy, and 23 addressed clinical validity and utility.

Autonomy and welfarism

Healthcare decision making is built upon the axiom that autonomous individuals make choices that are in their own best interests and compatible with their moral frameworks (Milligan and Jones 2016). Autonomy is understood as individual independence (Milligan and Jones 2016) and is intrinsically valuable (Deans and Newson 2011). While consumers can choose whether to undergo testing, discussion of DTC genetic testing and autonomy is centred around consumer actions after testing. Proponents argue DTC genetic tests empower consumers to take more control of their health by providing information that can inform potentially beneficial lifestyle changes (Bair 2012; Bollinger et al. 2013; Fukuda and Takada 2018; Howard and Borry 2012). As these tests have questionable clinical validity and utility (Skirton et al. 2012), it is debatable whether this is actually true.

The discussion about autonomy raises related questions about welfarism. Under a welfarist framework, individuals make choices that maximize their well-being (Walker et al. 2011). In the context of DTC genetic testing, welfarism suggests that consumers use their results to inform appropriate changes to their diet, lifestyle, exercise regimes, and other behaviors. In general, consumers intend to modify their diet and exercise based on their genetic profiles (Bansback et al. 2012). However, less than half (47%) read all of their results (Kaphingst et al. 2012), and only little to moderate change in health behavior has been observed after in response to DTC genetic testing results (Baptista et al. 2016; Bloss et al. 2013; Boeldt et al. 2015; Carere et al. 2017; Kaufman et al. 2012; McGowan et al. 2010; Nielsen et al. 2017; Reid et al. 2012; Wasson et al. 2013). While the decision to change behavior is autonomous, failure to make changes that are potentially beneficial indicates that individuals do not always act in their own best interests to increase personal welfare. Consumers who consult an HCP are more likely to make lifestyle modifications (Kaufman et al. 2012), and those who alter diet and exercise according to their genetic profile may simply be more health-motivated overall; thus, the motivating effect of DTC genetic tests alone remains unclear.

Informed decision making and consent

Respect for autonomy is operationalized through the process of informed consent whereby an individual makes an informed decision. Informed decisions are founded upon relevant knowledge and are concordant with a person’s values (Deans and Newson 2011). One of the main concerns regarding DTC genetic testing is that consumers may receive inadequate pre- and post-test counseling. Consequently, they may learn information they were not expecting, not prepared for, or did not wish to learn, or they may misinterpret results leading to undue stress, or unnecessary tests or procedures (Agurs-Collins et al. 2015; Bair 2012; Francke et al. 2013; Hazel and Slobogin 2018; Howard and Borry 2012; Mathews et al. 2012; Niemiec et al. 2016; Palmer 2012; Phillips 2016; Sanfilippo et al. 2015; Spector-Bagdady 2015). Many consumers undergo testing without knowing what to expect (Wasson et al. 2013). There is also concern that information on commercial testing websites is incomplete or misleading (Christofides and O’Doherty 2016; Laestadius et al. 2017; Niemiec et al. 2016; Niemiec and Howard 2016; Phillips 2016; Singleton et al. 2012).

Studies exploring consumer understanding of DTC genetic tests have had mixed results (Goldsmith et al. 2012; Roberts and Ostergren 2013). Most consumers (74.5%) felt they had a strong understanding of their results (Bloss et al. 2013) but struggled to understand complex genetics concepts such as reduced penetrance or multifactorial inheritance (Allen et al. 2018). When asked to interpret results, the proportion of people who answered correctly ranged from 24 to 90% (Kaufman et al. 2012; Leighton et al. 2012; McGrath et al. 2016). Understanding of results increased with greater participant numeracy, genetics knowledge, and education (Ostergren et al. 2015). In some cases however, misinterpretation or incorrect beliefs about test results persisted after counseling from genetics professionals (Allen et al. 2018).

Another concern is there is no mechanism to prevent surreptitious or involuntary DNA testing, which occurs when an individual obtains and submits a biological sample of another person without consent (Mathews et al. 2012; Phillips 2016). This represents a substantial infringement of a person’s autonomy. Over 30 DTC genetic testing companies provide an avenue for involuntary testing by marketing their product as a way to covertly determine a child’s paternity and uncover infidelity (Phillips 2016). Decision makers devising DTC genetic testing policy should address concerns that consumers may not have the expertise or resources to make fully informed decisions.

Privacy

Keeping an individual’s genetic information confidential, particularly from insurance companies and employers, is a common concern (Bair 2012; Christofides and O’Doherty 2016; Hazel and Slobogin 2018; Lynch et al. 2011; Niemiec and Howard 2016; Phillips 2016; Skirton et al. 2012). It may be argued that DTC genetic testing companies can maintain consumer privacy as they are not linked to medical records and may therefore be unavailable to insurance companies and employers (Lynch et al. 2011). However, this has been questioned (Lynch et al. 2011) as their privacy policies often warn consumers that third parties may have access to their genetic information (Guerrini et al. 2018; Laestadius et al. 2017). For example, police in the US used the database of a DTC genetic testing company to identify California’s Golden State Killer, thus implying that consumers’ genetic information is vulnerable to police access (Guerrini et al. 2018; Phillips 2018). One survey found that most people support police searches of genealogy databases, the disclosure of information to police by DTC genetic testing companies, and the creation of fake profiles by law enforcement on ancestry websites (Guerrini et al. 2018). More than half (55.4%) of DTC genetic testing websites do not provide consumers with any privacy policy (Du and Wang 2020). It is thus important to consider how regulation might protect consumer privacy, and whether there are circumstances in which protections should be relaxed.

Clinical validity and utility

The clinical validity and utility of DTC genetic tests was questioned in 16 Canadian and US studies (Abul-Husn et al. 2014; Allen et al. 2018; Bair 2012; Baptista et al. 2016; Baudhuin 2014; Bernhardt et al. 2012; Buitendijk et al. 2014; Caulfield and McGuire 2012; Chokoshvili et al. 2017; Covolo et al. 2015; Curnutte and Testa 2012; Kalf et al. 2014; Leighton et al. 2012; Skirton et al. 2012; Tandy-Connor et al. 2018; Wasson et al. 2013). Most tests examine only single nucleotide polymorphisms (SNPs), the most common type of genetic variation among individuals (NIH United States Library of Medicine 2018) known to have low predictive ability for certain diseases (Abul-Husn et al. 2014; Allen et al. 2018; Bair 2012; Baudhuin 2014; Leighton et al. 2012). Furthermore, the same SNP has been associated with high or low risk for a particular disease depending on the company (Buitendijk et al. 2014; Leighton et al. 2012). Discrepancies between DTC genetic testing results and subsequent clinical confirmatory testing have been observed (Allen et al. 2018) with 40% of variants found to be false positives (Tandy-Connor et al. 2018). The clinical utility of DTC genetic tests is thus jeopardized, as HCPs cannot act upon DTC results alone and are advised to order confirmatory clinical testing (Horton et al. 2019).

Interests

DTC genetic testing involves a number of stakeholders, each with their own interests. Here, the interests of the public and HCPs are explored.

The public

Eleven publications have explored the attitudes and experiences of the Canadian or American public with mixed results (Baptista et al. 2016; Bollinger et al. 2013; Francke et al. 2013; Gollust et al. 2017; Gray et al. 2012; Koeller et al. 2017; Landry et al. 2017; Nielsen et al. 2014; Roberts et al. 2017; Van Der Wouden et al. 2016; Wasson et al. 2013). Most who have undergone DTC genetic testing support the consumer-driven model of access, and many consider that genetic tests should be more widely available, such as in drugstores (Gollust et al. 2017). Less than 30% of American respondents (Gollust et al. 2017) believed the government should increase regulation of consumers’ ability to directly access their genetic information, but most believed oversight by either a nongovernmental organization (84%) or a governmental agency (73%) would be beneficial (Bollinger et al. 2013).

Healthcare providers (HCPs)

Ten Canadian and US documents reported HCP perspectives and experiences (Table 1). Giovanni and colleagues (2010) found that 52% of HCPs considered DTC genetic testing to be clinically useful, particularly for breast cancer susceptibility. Bernhardt et al. (2012) found that 40% of physicians think DTC genetic testing results would aid patient management and 47% feel that it provides patients with helpful information by encouraging them to make positive lifestyle choices. However, 97% of surveyed clinical geneticists agreed that genetic testing outside the health system would be unacceptable for non-preventable, untreatable conditions without consultation with an HCP, and 70% believed it would be unacceptable for preventable and treatable conditions (Howard and Borry 2013). Many HCPs do not feel prepared to answer patients’ questions about DTC genetic testing (Haga et al. 2019; Powell et al. 2012). Many primary care physicians do not receive genomics education, nor do they participate in continuing medical education in this area (Haga et al. 2019).

Multiple professional colleges advocate for involvement of genetics professionals in DTC genetic testing (Koeller et al. 2017) and strengthening of regulations (Starkweather et al. 2018). The ACOG (2017) recommended DTC genetic testing be discouraged because of potential for harm. In Canada, medical geneticists have asked for regulation. The CCMG’s “concerns with DTC genetic testing services [were] focused on the potential for misleading and/or deceptive marketing practices, a lack of validation of test accuracy or reliability, the risk of misinterpretation of results, and their downstream implications, including issues of potential discrimination and negative effects on the Canadian [healthcare] system” (CCMG 2015). The CCMG praised the FDA’s oversight of 23andMe, Inc. and asked the Canadian government to place boundaries on DTC genetic testing in Canada (CCMG 2015). The Canadian Medical Association also recommends DTC genetic tests and their marketing be regulated at the government and industry levels, with input from HCPs (CMA 2017).

Institutions

Although DTC genetic testing currently exists outside of technology-specific regulations in many jurisdictions, there are in some cases other institutions or broader regulatory structures that govern, for example, genetic testing in general or the protection of personal information that may also capture this type of testing. Three categories of relevant institutions were identified: (i) regulatory organizations such as the FDA and Health Canada, (ii) laws or regulations governing the implementation or delivery of genetic testing, and (iii) legislation created to protect against genetic discrimination, for example, the US Genetic Information Nondiscrimination Act (GINA) (“Genetic Information Nondiscrimination Act” 2008) and the Canadian Genetic Non-Discrimination Act (GNA) (“Genetic Non-Discrimination Act” 2017). Data about institutions were obtained from 12 documents as well as from websites of the FDA (FDA 2017, 2018, 2019, 2020) and the National Human Genome Research Institute (NHGRI 2020).

Regulatory organizations

In the US, the FDA is responsible for assessing the safety and efficacy of human and veterinary drugs, biological products, and medical devices, as well as ensuring food, cosmetics, and products that emit radiation are safe (FDA 2018). The FDA classifies DTC genetic tests as medical devices, and they review tests developed for “moderate- to high-risk medical purposes which may have a higher impact on medical care” (FDA 2019). The FDA assesses a test’s analytic validity, clinical validity, and company claims. DTC genetic tests for “non-medical, general wellness, or low-risk medical purposes” are not reviewed (FDA 2019). As of July 2021, all the DTC genetic tests that received marketing authorization by the FDA are offered by 23andMe, Inc. (FDA 2019). However, the FDA’s regulatory policies mean that other tests can still be marketed. In particular, devices that are “substantially equivalent” to previously authorized devices are subject to an accelerated clearance process (FDA 2020). Additionally, in 2017, the FDA relaxed their oversight of DTC genetic tests, stating that carrier screening tests (by any company) would be exempt from premarket review (FDA 2017).

Similar to the FDA, Health Canada regulates medical devices, pharmaceuticals, and diagnostics to ensure safety, effectiveness, and quality prior to marketing authorization. In contrast to the US, the lack of regulation in Canada is partly due to DNA samples being analyzed in laboratories outside of Canada. DNA collection kits are considered to be Class I medical devices (i.e., low risk not requiring a license) that only transport DNA but do not have any diagnostic functions (CADTH 2017). If the samples were tested within Canada, it is possible that Health Canada would consider DTC genetic tests as Class III in vitro diagnostic devices (i.e., moderate risk requiring a medical license) and consequently increase regulatory oversight (CADTH 2017).

Genetic testing legislation

In addition to regulations set out by organizations such as the FDA and Health Canada, many jurisdictions have enacted laws governing the provision of genetic testing. In Austria, France, Germany, Hungary, Italy, Lithuania, the Netherlands, Portugal, Slovenia, Spain, and Switzerland, medical supervision for health-related genetic testing is mandatory (Borry et al. 2012; Chokoshvili et al. 2017; Fukuda and Takada 2018; Kalokairinou et al. 2018). Some countries have implemented strict informed consent conditions specifying the type of information patients must receive prior to testing and mandating written consent (Kalokairinou et al. 2018). Although these legislations were not created specifically to regulate DTC genetic testing, these tests may still be captured by the legal approaches described (Fukuda and Takada 2018).

Laws protecting against genetic discrimination

Genetic discrimination has been described as a possible consequence of genetic testing as early as 1984 (Matthewman 1984), and the issue has received attention by policy makers globally (Joly et al. 2017). Legislative responses began in 2001, when the British government negotiated an agreement whereby insurance companies agreed to temporarily refrain from using results from predictive genetic testing when setting insurance premiums (Joly et al. 2017). GINA was not enacted in the US until 2008 (“Genetic Information Nondiscrimination Act” 2008), and the GNA became law in Canada in 2017 (“Genetic Non-Discrimination Act” 2017).

GINA prohibits health insurers and employers from discriminating against individuals based on their genetic information (NHGRI 2020). Insurance providers can neither use genetic information to make decisions about coverage, underwriting, or premium amounts, nor require individuals to undergo genetic testing to purchase a plan. GINA extends to private and public health insurers, including Medicare, Medicaid, Federal Employees Health Benefits, and the Veterans Health Administration. With respect to employers, GINA prohibits the use of genetic information for hiring, firing, promotion, pay, and job assignment decisions (NHGRI 2020). Employers, employment agencies, labor organizations, labor-management training programs, and apprenticeship programs are prohibited from mandating that individuals take a genetic test as a condition of employment.

In Canada, the GNA ensures that providers of goods and services, such as insurers, cannot request or require that an individual undergo genetic testing, nor can they compel an individual to disclose the results of previous or future genetic tests (CAGC 2017). Federally regulated employers are not permitted to request or require an employee’s genetic testing results, nor can they use genetic information for hiring, firing, job assignment, or promotion decisions. The GNA bans discrimination on the basis of genetic characteristics under the Canadian Human Rights Act. Therefore, while DTC genetic tests are not regulated in Canada, there are laws governing dissemination and use of consumers’ DTC genetic testing results.

Discussion

Ideas, interests, and institutions relevant to regulating DTC genetic testing include autonomy and welfarism, informed decision making, privacy, clinical validity, and utility; the perspectives of the public and HCPs; and the roles regulatory organizations, legislation for genetic testing, and laws protecting against genetic discrimination.

DTC genetic tests facilitate consumer autonomy and have the potential to increase personal welfare. However, consumers may choose not to act on the information they receive, or minimally act upon it, raising the question of whether the information is still useful, and whether enhancing autonomy and welfare is a sufficiently strong argument in favour of regulation. Regulation that achieves this aim may take a number of forms. For example, mandating that DTC genetic testing consumers receive genetic counseling as part of the testing service could ensure they are better informed of the accuracy, utility, and implications of their results and therefore in a better position to make decisions in their best interests based on their genetic information. Receiving DTC genetic testing results from a trained HCP has been shown to improve individuals’ understanding of their genomic risk (Haga et al. 2014). Regulating DTC genetic testing so that consumers would first be required to speak with an HCP could be one way to safeguard informed decision making (Fukuda and Takada 2018) as has been done many countries (Borry et al. 2012; Chokoshvili et al. 2017; Fukuda and Takada 2018; Kalokairinou et al. 2018). However, such policies may be difficult to enforce due to the international and online nature of the DTC genetic testing industry and constraints in the supply of genetics specialists.

Increased HCP education regarding genetic testing has been called for (Brett et al. 2012; Haga et al. 2019; Powell et al. 2012) as clinicians feel obligated to interpret test results (Goldsmith et al. 2013; Howard and Borry 2013), provide proper information (Samuel et al. 2017), and address emotional, social, and situational issues during the consent process (Samuel et al. 2017).

Regulation of DTC genetic testing would also aim to protect consumer privacy by strengthening protections and requiring that companies be transparent about who will have access to consumer data and how consumers’ genetic information will be used by the company or any third parties. Regulation may also mitigate some of the concerns around clinical validity by limiting the number of tests available with little-to-no clinical validity that are available on the market. However, many DTC genetic testing companies disclose poor clinical validity as a limitation of their service (Singleton et al. 2012) thus reducing the availability of these tests could be perceived as an encroachment on consumer autonomy.

Finally, DTC genetic testing may have implications for the healthcare system. Patients who have undergone DTC genetic testing make follow-up appointments with HCPs (Allen et al. 2018; Bloss et al. 2014; Brett et al. 2012; Carere et al. 2017) which can lead to a cascade referrals to specialists (Giovanni et al. 2010) placing additional burden on a constrained system.

While this review included an expansive search of relevant literature, it did not directly address the balance between the benefits and harms of health-related DTC genetic testing. Another limitation was not including the perspective of testing providers due to a lack of studies examining their concerns.

Conclusion

This study used the 3-I framework to analyze considerations for regulating health-related DTC genetic testing. Regulations for DTC genetic testing should require an assessment of clinical validity, control how tests are marketed, and dictate requirements for HCP education, involvement, and informed consent. By examining the gaps in DTC genetic testing policy and regulation, this review is a resource for understanding the relevant ethical, social, legal, and technological issues to inform future policy development.

Supplementary Information

Below is the link to the electronic supplementary material.

Supplementary file1 (DOCX 23 KB) (23.2KB, docx)
Supplementary file2 (DOCX 25 KB) (25KB, docx)
Supplementary file3 (DOCX 91 KB) (90.7KB, docx)
Supplementary file4 (JPEG 385 KB) (385.1KB, jpeg)

Author contribution

Conceptualization: Alexandra Cernat. Methodology: Alexandra Cernat. Formal analysis: Alexandra Cernat, Naazish S. Bashir, and Wendy J. Ungar. Writing—original draft: Alexandra Cernat. Writing—review and editing: Alexandra Cernat, Naazish S. Bashir, and Wendy J. Ungar. Visualization: Alexandra Cernat. Supervision: Wendy J. Ungar.

Funding

Alexandra Cernat was supported by the Canadian Institutes of Health Research through a Canada Graduate Scholarships Master’s Award (CGS-M), by the Hospital for Sick Children (SickKids) through a Restracomp Master’s Scholarship, and by the Institute of Health Policy, Management and Evaluation, University of Toronto. Dr. Naazish S. Bashir was supported by a SickKids Restracomp Post-Doctoral Research Fellowship. Dr. Wendy J. Ungar is supported by the Canada Research Chair in Economic Evaluation and Technology Assessment in Child Health.

Data availability

Data sharing is not applicable to this article as no datasets were generated or analyzed during the current study.

Code availability

Code sharing is not applicable to this article as no code was generated during the current study.

Declarations

Ethics approval

This article does not contain any studies with human or animal subjects performed by any of the authors and therefore did not require ethics approval.

Consent to participate

Consent to participate is not applicable to this article as it does not contain any studies with human subjects performed by any of the authors.

Consent for publication

Consent for publication is not applicable to this article as it does not contain any studies with human subjects performed by any of the authors.

Conflict of interest

The authors declare no competing interests.

Footnotes

Publisher’s note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

References

  1. 23andMe (2021) 23andMe. Retrieved July 11, 2021 from https://www.23andme.com/en-ca
  2. Abul-Husn NS, Owusu Obeng A, Sanderson SC, Gottesman O, Scott SA. Implementation and utilization of genetic testing in personalized medicine. Pharmacogenomics Pers Med. 2014;7(1):227–240. doi: 10.2147/PGPM.S48887. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. ACOG Committee on Genetics (2017) Committee opinion no. 724: consumer testing for disease risk. Obstet Gynecol 130(5):e270–e273. 10.1097/AOG.0000000000002401 [DOI] [PubMed]
  4. Agurs-Collins T, Ferrer R, Ottenbacher A, Waters EA, O’Connell ME, Hamilton JG (2015) Public awareness of direct-to-consumer genetic tests: findings from the 2013 U.S. Health Information National Trends Survey. J Cancer Educ 30(4):799–807. 10.1007/s13187-014-0784-x [DOI] [PMC free article] [PubMed]
  5. Allen CG, Gabriel J, Flynn M, Cunningham TN, Wang C. The impact of raw DNA availability and corresponding online interpretation services: a mixed-methods study. Transl Behav Med. 2018;8(1):105–112. doi: 10.1093/tbm/ibx009. [DOI] [PubMed] [Google Scholar]
  6. Arksey H, O’Malley L (2005) Scoping studies: towards a methodological framework. Int J Soc Res Methodol 8. 10.1080/1364557032000119616
  7. Bair S (2012) Bair S (2012) Direct-to-consumer genetic testing: learning from the past and looking toward the future. Food Drug Law J 67(4):413–433+ii. https://pubmed.ncbi.nlm.nih.gov/24640615/ [PubMed]
  8. Bansback N, Sizto S, Guh D, Anis AH. The effect of direct-to-consumer genetic tests on anticipated affect and health-seeking behaviors: a pilot survey. Genet Test Mol Biomarkers. 2012;16(10):1165–1171. doi: 10.1089/gtmb.2012.0074. [DOI] [PubMed] [Google Scholar]
  9. Baptista NM, Christensen KD, Carere DA, Broadley SA, Roberts JS, Green RC. Adopting genetics: motivations and outcomes of personal genomic testing in adult adoptees. Genet Med. 2016;18(9):924–932. doi: 10.1038/gim.2015.192. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Bashir NS, Ungar WJ. The 3-I framework: a framework for developing public policies regarding pharmacogenomics (PGx) testing in Canada. Genome. 2015;58(12):527–540. doi: 10.1139/gen-2015-0100. [DOI] [PubMed] [Google Scholar]
  11. Baudhuin LM. The FDA and 23andMe: violating the first amendment or protecting the rights of consumers? Clin Chem. 2014;60(6):835–837. doi: 10.1373/clinchem.2014.223321. [DOI] [PubMed] [Google Scholar]
  12. Bernhardt BA, Zayac C, Gordon ES, Wawak L, Pyeritz RE, Gollust SE. Incorporating direct-to-consumer genomic information into patient care: attitudes and experiences of primary care physicians. Per Med. 2012;9(7):683–692. doi: 10.2217/pme.12.80. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Bloss CS, Wineinger NE, Darst BF, Schork NJ, Topol EJ. Impact of direct-to-consumer genomic testing at long term follow-up. J Med Genet. 2013;50(6):393–400. doi: 10.1136/jmedgenet-2012-101207. [DOI] [PubMed] [Google Scholar]
  14. Bloss CS, Schork NJ, Topol EJ. Direct-to-consumer pharmacogenomic testing is associated with increased physician utilisation. J Genet Med. 2014;51(2):83–89. doi: 10.1136/jmedgenet-2013-101909. [DOI] [PubMed] [Google Scholar]
  15. Boeldt DL, Schork NJ, Topol EJ, Bloss CS. Influence of individual differences in disease perception on consumer response to direct-to-consumer genomic testing. Clin Genet. 2015;87(3):225–232. doi: 10.1111/cge.12419. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Bollinger JM, Green RC, Kaufman D. Attitudes about regulation among direct-to-consumer genetic testing customers. Genet Test Mol Bioma. 2013;17(5):424–428. doi: 10.1089/gtmb.2012.0453. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Borry P, Van Hellemondt RE, Sprumont D, Jales CFD, Rial-Sebbag E, Spranger TM et al (2012) Legislation on direct-to-consumer genetic testing in seven European countries. Eur J Hum Genet 20(7):715–721. 10.1038/ejhg.2011.278 [DOI] [PMC free article] [PubMed]
  18. Brett GR, Metcalfe SA, Amor DJ, Halliday JL. An exploration of genetic health professionals’ experience with direct-to-consumer genetic testing in their clinical practice. Eur J Hum Genet. 2012;20(8):825–830. doi: 10.1038/ejhg.2012.13. [DOI] [PMC free article] [PubMed] [Google Scholar]
  19. Buitendijk GH, Amin N, Hofman A, van Duijn CM, Vingerling JR, Klaver CC. Direct-to-consumer personal genome testing for age-related macular degeneration. Invest Ophthalmol vis Sci. 2014;55(10):6167–6174. doi: 10.1167/iovs.14-15142. [DOI] [PubMed] [Google Scholar]
  20. CADTH (2017) Focus on: direct-to-consumer genetic testing. Health Technol Update (18):11–14. https://cadth.ca/sites/default/files/pdf/Health_Technology_Update_Issue_18.pdf. Accessed 13 Feb 2022 
  21. CAGC (2017) Genetic Non-Discrimination Act (GNA). Retrieved from https://www.cagc-accg.ca/doc/S201%20fact%20sheet%20-%20final%20copy%20-%20May%2017%202017.pdf. Accessed 13 Feb 2022
  22. Carere DA, VanderWeele TJ, Vassy JL, van der Wouden CH, Roberts JS, Kraft P, Green RC. Prescription medication changes following direct-to-consumer personal genomic testing: findings from the Impact of Personal Genomics (PGen) Study. Genet Med. 2017;19(5):537–545. doi: 10.1038/gim.2016.141. [DOI] [PMC free article] [PubMed] [Google Scholar]
  23. Caulfield T, McGuire AL. Direct-to-consumer genetic testing: perceptions, problems, and policy responses. Annu Rev Med. 2012;63:23–33. doi: 10.1146/annurev-med-062110-123753. [DOI] [PubMed] [Google Scholar]
  24. CCMG (2015) Direct-to-consumer (DTC) genetic testing in this country. In: Ambrose R (ed) The honourable. Ottawa, ON
  25. Charmaz K (2006) Constructing grounded theory: a practical guide through qualitative analysis. Sage Publications
  26. Chokoshvili D, Vears DF, Borry P. Growing complexity of (expanded) carrier screening: direct-to-consumer, physician-mediated, and clinic-based offers. Best Pract Res Clin Obstet Gynaecol. 2017;44:57–67. doi: 10.1016/j.bpobgyn.2017.02.006. [DOI] [PubMed] [Google Scholar]
  27. Christofides E, O'Doherty K. Company disclosure and consumer perceptions of the privacy implications of direct-to-consumer genetic testing. New Genet Soc. 2016;35(2):101–123. doi: 10.1080/14636778.2016.1162092. [DOI] [Google Scholar]
  28. CMA (2017) CMA policy: direct-to-consumer genetic testing. Retrieved from https://www.cma.ca/sites/default/files/2018-11/cma-policy-direct-to-consumer-genetic-testing-pd17-05-e.pdf. Accessed 13 Feb 2022
  29. Covolo L, Rubinelli S, Ceretti E, Gelatti U. Internet-based direct-to-consumer genetic testing: a systematic review. J Med Internet Res. 2015;17(12):e279. doi: 10.2196/jmir.4378. [DOI] [PMC free article] [PubMed] [Google Scholar]
  30. Curnutte M, Testa G. Consuming genomes: scientific and social innovation in direct-to-consumer genetic testing. New Genet Soc. 2012;31(2):159–181. doi: 10.1080/14636778.2012.662032. [DOI] [Google Scholar]
  31. Deans Z, Newson AJ. Should non-invasiveness change informed consent procedures for prenatal diagnosis? Health Care Anal. 2011;19(2):122–132. doi: 10.1007/s10728-010-0146-8. [DOI] [PubMed] [Google Scholar]
  32. Deber R (2014) Concepts for the policy analyst. In Deber R, Mah C (eds) Case studies in Canadian health policy and management, 2nd ed. University of Toronto Press
  33. Du L, Wang M (2020) Genetic privacy and data protection: a review of Chinese direct-to-consumer genetic test services. Front Genet 11, Article 416. 10.3389/fgene.2020.00416 [DOI] [PMC free article] [PubMed]
  34. FDA (2017) Medical devices; exemption from premarket notification; class II devices; autosomal recessive carrier screening gene mutation detection system. Federal Register 82(214). https://www.govinfo.gov/content/pkg/FR-2017-11-07/pdf/2017-24162.pdf. Accessed 13 Feb 2022 [PubMed]
  35. FDA (2018) What we do. Retrieved July 13, 2021 from https://www.fda.gov/about-fda/what-we-do
  36. FDA (2019) Direct-to-consumer tests. Retrieved July 13, 2021 from https://www.fda.gov/medical-devices/in-vitro-diagnostics/direct-consumer-tests
  37. FDA (2020) Premarket notification 510(k). Retrieved July 13, 2021 from https://www.fda.gov/medical-devices/premarket-submissions/premarket-notification-510k
  38. Francke U, Dijamco C, Kiefer AK, Eriksson N, Moiseff B, Tung JY, Mountain JL (2013) Dealing with the unexpected: consumer responses to direct-access BRCA mutation testing. Peerj 2013(1), Article e8. 10.7717/peerj.8 [DOI] [PMC free article] [PubMed]
  39. Fukuda R, Takada F (2018) Legal regulations on health-related direct-to-consumer genetic testing in 11 countries. Kitasato Med J 48:52–59. https://www.kitasato-u.ac.jp/ktms/kaishi/pdf/KMJ48-1/KMJ48-1p52-59.pdf
  40. Genetic Information Nondiscrimination Act (2008). https://www.eeoc.gov/statutes/genetic-information-nondiscrimination-act-2008#. Accessed 13 Feb 2022
  41. Genetic Non-Discrimination Act (2017). https://laws-lois.justice.gc.ca/PDF/G-2.5.pdf
  42. Giovanni MA, Fickie MR, Lehmann LS, Green RC, Meckley LM, Veenstra D, Murray MF. Health-care referrals from direct-to-consumer genetic testing. Genet Test Mol Bioma. 2010;14(6):817–819. doi: 10.1089/gtmb.2010.0051. [DOI] [PMC free article] [PubMed] [Google Scholar]
  43. Goldsmith L, Jackson L, O'Connor A, Skirton H. Direct-to-consumer genomic testing: systematic review of the literature on user perspectives. Eur J Hum Genet. 2012;20(8):811–816. doi: 10.1038/ejhg.2012.18. [DOI] [PMC free article] [PubMed] [Google Scholar]
  44. Goldsmith L, Jackson L, O'Connor A, Skirton H. Direct-to-consumer genomic testing from the perspective of the health professional: a systematic review of the literature. J Community Genet. 2013;4(2):169–180. doi: 10.1007/s12687-012-0135-8. [DOI] [PMC free article] [PubMed] [Google Scholar]
  45. Gollust SE, Gray SW, Carere DA, Koenig BA, Lehmann LS, McGuire AMYL et al (2017) Consumer perspectives on access to direct-to-consumer genetic testing: role of demographic factors and the testing experience. Milbank Q 95(2):291–318. 10.1111/1468-0009.12262 [DOI] [PMC free article] [PubMed]
  46. Gray SW, Hornik RC, Schwartz JS, Armstrong K. The impact of risk information exposure on women’s beliefs about direct-to-consumer genetic testing for BRCA mutations. Clin Genet. 2012;81(1):29–37. doi: 10.1111/j.1399-0004.2011.01797.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
  47. Guerrini CJ, Robinson JO, Petersen D, McGuire AL. Should police have access to genetic genealogy databases? Capturing the Golden State Killer and other criminals using a controversial new forensic technique. PLoS Biol. 2018;16(10):e2006906. doi: 10.1371/journal.pbio.2006906. [DOI] [PMC free article] [PubMed] [Google Scholar]
  48. Haga SB, Barry WT, Mills R, Svetkey L, Suchindran S, Willard HF, Ginsburg GS. Impact of delivery models on understanding genomic risk for type 2 diabetes. Public Health Genomics. 2014;17(2):95–104. doi: 10.1159/000358413. [DOI] [PMC free article] [PubMed] [Google Scholar]
  49. Haga SB, Kim E, Myers RA, Ginsburg GS (2019) Primary care physicians’ knowledge, attitudes, and experience with personal genetic testing. J Pers Med 9(2), Article 29. 10.3390/jpm9020029 [DOI] [PMC free article] [PubMed]
  50. Hall PA. The role of interests, insitutions and ideas in the comparative political economy of the industrialized nations. In: Lichbach MI, Zuckerman AS, editors. Comparative politics: rationality, culture, and structure. Cambridge University Press; 1997. pp. 174–207. [Google Scholar]
  51. Hazel JW, Slobogin C (2018) Who knows what, and when? A survey of the privacy policies proffered by U.S. direct-to-consumer genetic testing companies. Cornell JLPP 28(1):35–66. https://pubmed.ncbi.nlm.nih.gov/30840416/ [PubMed]
  52. Heclo H. Ideas, interests, and institutions. In: Dodd LC, Jillson CC, editors. The dynamics of American politics: approaches and interpretations. Westview Press; 1994. pp. 366–392. [Google Scholar]
  53. Hogarth S, Javitt G, Melzer D. The current landscape for direct-to-consumer genetic testing: legal, ethical, and policy issues. Annu Rev Genomics Hum Genet. 2008;9:161–182. doi: 10.1146/annurev.genom.9.081307.164319. [DOI] [PubMed] [Google Scholar]
  54. Horton R, Crawford G, Freeman L, Fenwick A, Wright CF, Lucassen A (2019) Direct-to-consumer genetic testing. Bmj 367. 10.1136/bmj.l5688 [DOI] [PMC free article] [PubMed]
  55. Howard HC, Borry P. Is there a doctor in the house? The presence of physicians in the direct-to-consumer genetic testing context. J Community Genet. 2012;3(2):105–112. doi: 10.1007/s12687-011-0062-0. [DOI] [PMC free article] [PubMed] [Google Scholar]
  56. Howard HC, Borry P. Survey of European clinical geneticists on awareness, experiences and attitudes towards direct-to-consumer genetic testing. Genome Med. 2013;5(5):45. doi: 10.1186/gm449. [DOI] [PMC free article] [PubMed] [Google Scholar]
  57. Joly Y, Feze IN, Song L, Knoppers BM. Comparative approaches to genetic discrimination: chasing shadows? Trends Genet. 2017;33(5):299–302. doi: 10.1016/j.tig.2017.02.002. [DOI] [PubMed] [Google Scholar]
  58. Kalf RR, Mihaescu R, Kundu S, de Knijff P, Green RC, Janssens AC. Variations in predicted risks in personal genome testing for common complex diseases. Genet Med. 2014;16(1):85–91. doi: 10.1038/gim.2013.80. [DOI] [PMC free article] [PubMed] [Google Scholar]
  59. Kalokairinou L, Howard HC, Slokenberga S, Fisher E, Flatscher-Thoni M, Hartlev M et al (2018) Legislation of direct-to-consumer genetic testing in Europe: a fragmented regulatory landscape. J Community Genet 9(2):117–132. 10.1007/s12687-017-0344-2 [DOI] [PMC free article] [PubMed]
  60. Kaphingst KA, McBride CM, Wade C, Alford SH, Reid R, Larson E et al (2012) Patients’ understanding of and responses to multiplex genetic susceptibility test results. Genet Med 14(7):681–687. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3417078/ [DOI] [PMC free article] [PubMed]
  61. Kaufman DJ, Bollinger JM, Dvoskin RL, Scott JA. Risky business: risk perception and the use of medical services among customers of DTC personal genetic testing. J Genet Couns. 2012;21(3):413–422. doi: 10.1007/s10897-012-9483-0. [DOI] [PubMed] [Google Scholar]
  62. Koeller DR, Uhlmann WR, Carere DA, Green RC, Roberts JS. Utilization of genetic counseling after direct-to-consumer genetic testing: findings from the Impact of Personal Genomics (PGen) Study. J Genet Couns. 2017;26(6):1270–1279. doi: 10.1007/s10897-017-0106-7. [DOI] [PMC free article] [PubMed] [Google Scholar]
  63. Laestadius LI, Rich JR, Auer PL. All your data (effectively) belong to us: data practices among direct-to-consumer genetic testing firms. Genet Med. 2017;19(5):513–520. doi: 10.1038/gim.2016.136. [DOI] [PubMed] [Google Scholar]
  64. Landry L, Nielsen DE, Carere DA, Roberts JS, Green RC. Racial minority group interest in direct-to-consumer genetic testing: findings from the PGen study. J Community Genet. 2017;8(4):293–301. doi: 10.1007/s12687-017-0325-5. [DOI] [PMC free article] [PubMed] [Google Scholar]
  65. Leighton JW, Valverde K, Bernhardt BA. The general public’s understanding and perception of direct-to-consumer genetic test results. Public Health Genom. 2012;15(1):11–21. doi: 10.1159/000327159. [DOI] [PubMed] [Google Scholar]
  66. Lynch J, Parrott A, Hopkin RJ, Myers M. Media coverage of direct-to-consumer genetic testing. J Genet Couns. 2011;20(5):486–494. doi: 10.1007/s10897-011-9374-9. [DOI] [PubMed] [Google Scholar]
  67. Mathews R, Hall W, Carter A. Direct-to-consumer genetic testing for addiction susceptibility: a premature commercialisation of doubtful validity and value. Addiction. 2012;107(12):2069–2074. doi: 10.1111/j.1360-0443.2012.03836.x. [DOI] [PubMed] [Google Scholar]
  68. Matthewman WD (1984) Title VII and genetic testing: can your genes screen you out of a job? How L J 27(4):1185–1220. https://heinonline.org/HOL/Page?handle=hein.journals/howlj27&div=53&g_sent=1&casa_token=HEEHiw2z0MoAAAAA:NezieSTTjxepdWxOivQSnNdrFEh7uEJCfm5rtdDuGQOfr_GYIsMEOK_t3UvDQ4dtEUNs5VsvHg&collection=journals
  69. McGowan ML, Fishman JR, Lambrix MA. Personal genomics and individual identities: motivations and moral imperatives of early users. New Genet Soc. 2010;29(3):261–290. doi: 10.1080/14636778.2010.507485. [DOI] [PMC free article] [PubMed] [Google Scholar]
  70. McGrath SP, Coleman J, Najjar L, Fruhling A, Bastola DR. Comprehension and data-sharing behavior of direct-to-consumer genetic test customers. Public Health Genom. 2016;19(2):116–124. doi: 10.1159/000444477. [DOI] [PubMed] [Google Scholar]
  71. Milligan E, Jones J (2016) Rethinking autonomy and consent in healthcare ethics. In: Clark PA (ed) Bioethics: medical, ethical, and legal perspectives. 10.5772/65765
  72. NHGRI (2020) Genetic discrimination. Retrieved July 13, 2021 from https://www.genome.gov/about-genomics/policy-issues/Genetic-Discrimination
  73. Nielsen DE, Shih S, El-Sohemy A (2014) Perceptions of genetic testing for personalized nutrition: a randomized trial of DNA-based dietary advice. J 7(2):94–104. 10.1159/000365508 [DOI] [PubMed]
  74. Nielsen DE, Carere DA, Wang C, Roberts JS, Green RC, Group PGS (2017) Diet and exercise changes following direct-to-consumer personal genomic testing. BMC Medical Genom 10(1):24. 10.1186/s12920-017-0258-1 [DOI] [PMC free article] [PubMed]
  75. Niemiec E, Howard HC. Ethical issues in consumer genome sequencing: use of consumers’ samples and data. Appl Transl Genom. 2016;8:23–30. doi: 10.1016/j.atg.2016.01.005. [DOI] [PMC free article] [PubMed] [Google Scholar]
  76. Niemiec E, Borry P, Pinxten W, Howard HC. Content analysis of informed consent for whole genome sequencing offered by direct-to-consumer genetic testing companies. Hum Mutat. 2016;37(12):1248–1256. doi: 10.1002/humu.23122. [DOI] [PubMed] [Google Scholar]
  77. NIH United States Library of Medicine (2018) What are single nucleotide polymorphisms (SNPs)? Retrieved July 28, 2021 from https://ghr.nlm.nih.gov/primer/genomicresearch/snp
  78. Ostergren JE, Gornick MC, Carere DA, Kalia SS, Uhlmann WR, Ruffin MT et al (2015) How well do customers of direct-to-consumer personal genomic testing services comprehend genetic test results? Findings from the Impact of Personal Genomics Study. Public Health Genomics 18(4):216–224. 10.1159/000431250 [DOI] [PMC free article] [PubMed]
  79. Palmer JE (2012) Genetic gatekeepers: regulating direct-to-consumer genomic services in an era of participatory medicine. Food Drug Law J 67(4):475–524. https://pubmed.ncbi.nlm.nih.gov/24640618/ [PubMed]
  80. Phillips C. The Golden State Killer investigation and the nascent field of forensic genealogy. Forensic Sci Int Genet. 2018;36:186–188. doi: 10.1016/j.fsigen.2018.07.010. [DOI] [PubMed] [Google Scholar]
  81. Phillips AM (2016) ‘Only a click away - DTC genetics for ancestry, health, love … and more: a view of the business and regulatory landscape’. Appl Transl Genom 8:16–22. 10.1016/j.atg.2016.01.001 [DOI] [PMC free article] [PubMed]
  82. Powell KP, Cogswell WA, Christianson CA, Dave G, Verma A, Eubanks S, Henrich VC. Primary care physicians’ awareness, experience and opinions of direct-to-consumer genetic testing. J Genet Couns. 2012;21(1):113–126. doi: 10.1007/s10897-011-9390-9. [DOI] [PubMed] [Google Scholar]
  83. Reid RJ, McBride CM, Alford SH, Price C, Baxevanis AD, Brody LC, Larson EB. Association between health-service use and multiplex genetic testing. Genet Med. 2012;14(10):852–859. doi: 10.1038/gim.2012.52. [DOI] [PMC free article] [PubMed] [Google Scholar]
  84. Roberts JS, Ostergren J. Direct-to-consumer genetic testing and personal genomics services: a review of recent empirical studies. Curr Genet Med Rep. 2013;1(3):182–200. doi: 10.1007/s40142-013-0018-2. [DOI] [PMC free article] [PubMed] [Google Scholar]
  85. Roberts JS, Gornick MC, Carere DA, Uhlmann WR, Ruffin MT, Green RC. Direct-to-consumer genetic testing: user motivations, decision making, and perceived utility of results. Public Health Genom. 2017;20(1):36–45. doi: 10.1159/000455006. [DOI] [PMC free article] [PubMed] [Google Scholar]
  86. Samuel GN, Dheensa S, Farsides B, Fenwick A, Lucassen A. Healthcare professionals’ and patients’ perspectives on consent to clinical genetic testing: moving towards a more relational approach. BMC Med Ethics. 2017;18(1):47. doi: 10.1186/s12910-017-0207-8. [DOI] [PMC free article] [PubMed] [Google Scholar]
  87. Sanfilippo PG, Kearns LS, Wright P, Mackey DA, Hewitt AW. Current landscape of direct-to-consumer genetic testing and its role in ophthalmology: a review. Clin Experiment Ophthalmol. 2015;43(6):578–590. doi: 10.1111/ceo.12508. [DOI] [PubMed] [Google Scholar]
  88. Shearer JC, Abelson J, Kouyate B, Lavis JN, Walt G. Why do policies change? Institutions, interests, ideas and networks in three cases of policy reform. Health Policy Plan. 2016;31(9):1200–1211. doi: 10.1093/heapol/czw052. [DOI] [PMC free article] [PubMed] [Google Scholar]
  89. Singleton A, Erby LH, Foisie KV, Kaphingst KA. Informed choice in direct-to-consumer genetic testing (DTCGT) websites: a content analysis of benefits, risks, and limitations. J Genet Couns. 2012;21(3):433–439. doi: 10.1007/s10897-011-9474-6. [DOI] [PMC free article] [PubMed] [Google Scholar]
  90. Skirton H, Goldsmith L, Jackson L, O'Connor A. Direct to consumer genetic testing: a systematic review of position statements, policies and recommendations. Clin Genet. 2012;82(3):210–218. doi: 10.1111/j.1399-0004.2012.01863.x. [DOI] [PubMed] [Google Scholar]
  91. Spector-Bagdady K. Reconceptualizing consent for direct-to-consumer health services. AJLM. 2015;41(4):568–616. doi: 10.1177/0098858815622191. [DOI] [PubMed] [Google Scholar]
  92. Starkweather AR, Coleman B, Barcelona de Mendoza V, Fu MR, Menzies V, O'Keefe M, Williams JK. Strengthen federal regulation of laboratory-developed and direct-to-consumer genetic testing. Nurs Outlook. 2018;66(1):101–104. doi: 10.1016/j.outlook.2017.11.004. [DOI] [PubMed] [Google Scholar]
  93. Tandy-Connor S, Guiltinan J, Krempely K, LaDuca H, Reineke P, Gutierrez S et al (2018) False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care. Genet Med 20(12):1515–1521. 10.1038/gim.2018.38 [DOI] [PMC free article] [PubMed]
  94. Van Der Wouden CH, Carere DA, Maitland-Van Der Zee AH, Ruffin MT, Roberts JS, Green RC et al (2016) Consumer perceptions of interactions with primary care providers after direct-to-consumer personal genomic testing. Ann Intern Med 164(8):513–522. 10.7326/M15-0995 [DOI] [PubMed]
  95. Vanstone M, Cernat A, Nisker J, Schwartz L. Women’s perspectives on the ethical implications of non-invasive prenatal testing: a qualitative analysis to inform health policy decisions. BMC Med Ethics. 2018;19(1):1–13. doi: 10.1186/s12910-018-0267-4. [DOI] [PMC free article] [PubMed] [Google Scholar]
  96. Walker S, Sculpher M, Drummond M. The methods of cost-effectiveness analysis to inform decisions about the use of health care interventions and programs. In: Glied S, Smith PC, editors. The Oxford Handbook of Health Economics. Oxford University Press; 2011. pp. 733–758. [Google Scholar]
  97. Wasson K, Sanders TN, Hogan NS, Cherny S, Helzlsouer KJ. Primary care patients’ views and decisions about, experience of and reactions to direct-to-consumer genetic testing: a longitudinal study. J Community Genet. 2013;4(4):495–505. doi: 10.1007/s12687-013-0156-y. [DOI] [PMC free article] [PubMed] [Google Scholar]

Associated Data

This section collects any data citations, data availability statements, or supplementary materials included in this article.

Supplementary Materials

Supplementary file1 (DOCX 23 KB) (23.2KB, docx)
Supplementary file2 (DOCX 25 KB) (25KB, docx)
Supplementary file3 (DOCX 91 KB) (90.7KB, docx)
Supplementary file4 (JPEG 385 KB) (385.1KB, jpeg)

Data Availability Statement

Data sharing is not applicable to this article as no datasets were generated or analyzed during the current study.

Code sharing is not applicable to this article as no code was generated during the current study.

Articles from Journal of Community Genetics are provided here courtesy of Springer

RESOURCES