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. 2020 Mar 4;2019:774–783.

Public Attitudes Toward Direct to Consumer Genetic Testing

Grayson L Ruhl 1, James W Hazel 1, Ellen Wright Clayton 1, Bradley A Malin 1
PMCID: PMC7153088  PMID: 32308873

Abstract

Direct to consumer genetic testing (DTC-GT) is an emerging service that allows individuals to have their DNA tested without having to consult a healthcare provider. DTC-GT can provide insight into various aspects about an individual, including their health and ancestry. However, testing may pose privacy risks and yield distressing results. Despite the growing popularity of DTC-GT, public attitudes toward such services remain largely ill-defined. Using Amazon Mechanical Turk, we administered a web-based survey to over 1,000 individuals to obtain intuition into public attitudes about DTC-GT. S urvey questions were grounded in a literature review of people’s views about DTC-GT. The results of the survey indicated that respondents were interested in DTC-GT as a possible way to gain insight about health, ancestry, and family relationships, as well as advance research. Despite this, respondents were concerned that DTC-GT companies and other users of their DTC-GT data would infringe upon their privacy.

Introduction

Advances in genome sequencing technology have enabled rapid growth in genomics research since the first sequencing of the human genome.1 As the price of genome sequencing has dropped over time,2 and the technology has become more accessible to the public, direct-to-consumer genetic testing (DTC-GT) has emerged as a new service.3 DTC-GT, also known as at-home testing, entails genetic testing services that are marketed directly to consumers and enable individuals to obtain personal genetic information without having to consult a healthcare provider.4 For example, 23andMe.com sends test kits to consumers’ homes to collect DNA samples in the form of saliva. Consumers then send the kits to a laboratory and receive results online after about six to eight weeks.5

Research studies in this area, which are largely focused on well-established and popular DTC-GT companies such as 23andMe.com and Ancestry.com, have indicated that there are several factors that directly influence consumer decisions to undergo testing. While DTC-GT can offer insight about a wide variety of topics, many people are particularly drawn to DTC-GT services that claim to provide information about personal health (e.g., informing participants about genetic health risks and carrier status), wellness, ancestry, and personal traits.6 Some consumers have been found to trust DTC-GT companies more than academic medical centers for the purpose of obtaining personal genetic information.7 Some services, however, are more controversial than others. Some companies offer tests that purport to assess children’s athletic potential, covertly determine paternity, and discover infidelity by testing surreptitiously-gathered biological material.8,9 Such practices have raised a variety of concerns among the ethical, legal, and scientific communities.6,10,11 This new market for genomics services has stirred debates about genetic privacy and identity, as there are potential risks and ethical issues associated with DTC-GT.8,10

The current literature about DTC-GT indicates that potential consumers are, to some degree, concerned about a variety of risks. Concerns include, but are not limited to, the following: (a) lack of certainty regarding how much control they have over data,12 (b) worries about privacy invasion,6 (c) tests that reveal health complications, determine paternity, or expose infidelity may disrupt family relationships or otherwise cause distress,13 and (d) misunderstandings due to inability to understand results.14 Despite these worries, this space is largely unregulated, except by the Food and Drug Administration (FDA) for health-related results.8,15 Recent studies of companies offering DTC-GT testing demonstrate that their privacy policies often fail to meet transparency guidelines concerning privacy and secondary use.8,16

In light of these concerns, consumer enthusiasm for DTC-GT can be difficult to rationalize. The privacy paradox is a commonly observed phenomenon wherein one’s behavior concerning privacy risks does not reflect his or her privacy concerns.17 Consumers often succumb to this paradox when weighing the utilities of having personal genetic testing against the entailed risks, and they are often unaware of potential consequences.12 Furthermore, preferences and actions vary by the individual, complicating our understandings of what drives people to pursue or avoid testing. Due to a lack of public understanding about this new arena of genetic testing, this market lacks policies that would meet consumers’ needs while ensuring the delivery of useful results and mitigating the problems that testing could cause.

Insight into how individuals react to the influences surrounding personal genetic testing will be useful in forming policies to create an optimal environment for participation in DTC-GT.18 This would be mutually beneficial to consumers and genetic testing companies. Specifically, consumers would experience the benefits of personalized genetic testing while facing low associated risks. Additionally, DTC-GT would become a more popular and transparent service industry. Informed by a review of the literature surrounding DTC-GT and a comprehensive analysis of DTC-GT company advertisements, we created a survey to understand public attitudes toward DTC-GT in greater depth.

Methods

Goals and Literature Review

The overarching goal of this study was to decipher what individuals perceived as the utilities and risks of having DTC-GT performed. To realize this goal, we 1) codified a grounded theory about public attitudes toward DTC-GT, which was inspired by the literature surrounding the DTC-GT landscape; 2) designed and administered a survey based on these observations; and 3) tested the survey results against the grounded theory. The study was approved by Vanderbilt University’s Institutional Review Board (Protocol #180172) and data collection took place in November 2018.

To gain an understanding of the DTC-GT environment, we searched for studies that explored the DTC-GT landscape. Having collected and examined a comprehensive set of studies that specifically assessed public attitudes toward DTC-GT services, we developed theories about the motivators that contribute to peoples’ opinions, as described below. We also researched DTC-GT advertisements by visiting the websites of various companies known to the investigators and by viewing commercials aired by companies. After conducting the literature review, our grounded theory was formulated as follows:

  1. People view DTC-GT as a useful means for managing their health and learning about their ancestry, but also utilize it for altruistic purposes (e.g., helping a family member or advancing research);6,19

  2. Peoples’ most prevalent concerns surrounding DTC-GT are 1) privacy risks;12 2) the interpretability and emotional impact of results;19,20 and 3) the familial disruptions that various types of results would cause.13

  3. People are more comfortable sharing their DTC-GT results with academic institutions than with third parties, including governmental, commercial, or foreign entities.7

Gauging privacy concerns required deliberation: privacy is a vague concept that is difficult to articulate and can embody various meanings. To determine public attitudes about the privacy risks while avoiding confusion, we separated privacy into three applicable concepts: confidentiality, anonymity, and solitude.21 Confidentiality entails keeping one’s information restricted to certain entities. Anonymity entails protecting one’s identity. And solitude entails respecting one’s right to be left alone, shielded from unwanted solicitation. We designed questions that would measure respondents’ concerns that DTC-GT companies would breach these three aspects of privacy. We were also interested in how social relationships influenced in consumers’ decisions. We assessed this by asking respondents about how motivated they would be to undergo testing if certain social connections (e.g., their parents, children, and friends) thought it was a good idea.

Survey Creation

Our survey instrument was created using the Research Electronic Data Capture (REDCap) platform22 and was administered on the Amazon Mechanical Turk (MTurk; discussed below). The REDCap survey consisted of various types of multiple-choice questions regarding DTC-GT, 15 in total. Respondents were also asked to provide voluntary demographics information (see Table 1). To measure respondents’ attitudes, we used the 3-point Likert scale answers, “A lot,” “Somewhat,” and “Very little” (the phrasing of some of our questions required slight wording variations for these Likert scale options). Several questions within our survey addressed topics using multiple choice inquiries, but not through a Likert scale, which allowed us to investigate connections between the Likert scale scores and the factors that potentially contributed to respondents’ attitudes. To verify participation and facilitate compensation, the survey also contained a field wherein respondents entered their MTurk worker IDs.

Table 1:

Demographic information of the 1,026 MTurk survey participants.

Demographic Group # of Respondents %
Age 18 – 3536 – 59 605345 58.97%
36 – 59 345 33.63%
60 and over 51 4.97%
Prefer not to say 25 2.44%
Gender Male 549 53.51%
Female 463 45.13%
Non-binary 4 0.39%
Prefer not to say 10 0.97%
Hispanic, Latino, or Spanish origin Yes 108 10.53%
No 907 88.40%
Prefer not to say 11 1.07%
Race African-American 90 8.77%
Asian 65 6.34%
Native American 19 1.85%
White 804 78.36%
Other 35 3.41%
Prefer not to say 13 1.27%
Marital Status Single (never married) 476 46.39%
Married or in a domestic partnership 460 44.83%
Divorced 56 5.46%
Separated 10 0.97%
Widowed or widower 15 1.46%
Prefer not to say 9 0.88%
Religion Very religious 152 14.81%
Somewhat religious 268 26.12%
Not very religious 147 14.33%
Not at all 441 42.98%
Prefer not to say 18 1.75%
Education Below high school graduate 4 0.39%
High school graduate 102 9.94%
Some college or Associate’s degree 236 23.00%
Bachelor’s degree 450 43.86%
Graduate or professional degree or higher 134 13.06%
Prefer not to say 10 0.97%
Income Less than $20,000 170 16.57%
$20,000 to $34,999 210 20.47%
$35,000 to $49,999 217 21.15%
$50,000 to $74,999 231 22.51%
$75,000 to $99,999 114 11.11%
$100,000 to $149,999 45 4.39%
$150,000 or more 15 1.46%
Prefer not to say 24 2.34%
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To determine the validity of workers’ responses before sending out our final survey, we gathered responses from a sample of 50 individuals. The responses from this sample demonstrated that certain questions contained wordings that resulted in misinterpretation, which prompted efforts to clarify the meanings of each question. To achieve face validity, we solicited feedback on the design and content of our survey from colleagues within Vanderbilt’s Center for Genetic Privacy and Identity in Community Settings (GetPreCiSe), a diverse interdisciplinary working group consisting of scholars from the law, medicine, psychology, history, and humanities fields. As further validation, and to ensure clarity of our questions after these extensive refinements, we conducted cognitive interviews with a small group of undergraduate students at Vanderbilt University. During these interviews, participants were asked to read aloud each question and provide their assessment of its intent. In response to this feedback, we concluded that the survey questions were unambiguous and comprehensible.

Study Population

The population for this investigation consists of respondents who took our survey, according to our guidelines, through the Amazon Mechanical Turk (MTurk) online crowdsourcing platform. MTurk is Amazon’s online marketplace for individuals, often called workers, to complete various tasks (e.g., transcribing a speech, determining if a video contains explicit material, or answering surveys), usually for some money in return. MTurk served as a portal to prompt respondents about our survey and to compensate them $0.50 for their participation. On MTurk’s interface, we provided background information about DTC-GT, as well as a consent forma, and provided respondents with the link and code necessary to access our REDCap survey.

Survey Dissemination and Data Analysis

We then released our survey, making it available to workers who resided in the United States for four days. After requesting 1,050 responses through MTurk, we gathered 1,090 surveys on REDCap. Ultimately, 1,026 submissions were deemed viable. We removed 64 from consideration for the following reasons: 34 submissions were unique to the REDCap system and thus did not coincide with MTurk Worker IDsb; 24 submissions contained duplicatesc or were incompleted; and 6 submissions contained responses with no variancee in their Likert scale answers, which strongly suggested that these workers did not consciously participate in our survey.

We exported the raw data files from REDCap containing the responses of all respondents mapped to a numerical format and derived general summary statistics about the results. For instance, answers for Likert scale questions showed up as a “1” to represent “A lot,” a “2” to represent “Somewhat,” and a “3” to represent “Very little.”

Results

Respondents’ Participation in DTC-GT

Of all respondents, 178 (17.3%) had undergone DTC-GT, 821 (80.0%) had not, and 27 (2.6%) were unsure (See Figure 1). Of the 178 respondents who had testing done, 117 (65.7%) did so to learn about their ancestry, 66 (37.1%) were curious about their personal traits, 58 (32.6%) wanted help managing their health, 19 (10.7%) wanted to determine the paternity of a child, and 5 (2.8%) took a DTC-GT test to discover infidelity (See Figure 2). Of the 821 respondents who had not undergone testing, 346 (42.1%) said they were likely to have testing in the future, 247 (30.0%) said they were unlikely to, and 228 (27.8%) did not know whether they would or not.

Figure 1:

Figure 1:

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Responses to the question, “Have you ever taken a DTC genetic test?”

Figure 2:

Figure 2:

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Responses to the question, “Why did you decide to take a DTC genetic test?”

Perceived Utilities of DTC-GT

Of all respondents, 90 (8.8%) knew more than five friends or family members who had undergone DTC-GT, 471 (45.9%) knew at least one such person, 256 (25.0%) knew none, and 209 (20.4%) did not know. When asked about the extent to which certain social connections would motivate them to get testing (i.e., if these individuals or groups thought it was a good idea), respondents’ spouses or partners were most influential (362 [35.3%] said “A lot”), followed by their children (282 [27.5%] said “A lot”), parents (197 [19.2%] said “A lot”), and friends (170 [16.6%] said “A lot”) (See Figure 3). There were 401 (39.1%) respondents who said that their friends’ positive opinions of DTC-GT would motivate them very little.

Figure 3:

Figure 3:

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Responses to the question, “How motivated would you be to have DTC genetic testing if your ___ thought it was a good idea?”

Of all respondents, 707 (68.9%) said that they would be strongly motivated to have DTC-GT done if it would help them in combating their own illness, and 664 (64.7%) would be strongly motivated if it would help someone in their family with a healthcare issue. When asked how motivated they would be to pursue testing if it would help advance medical research, 430 (41.9%) respondents said “A lot,” and 372 (36.3%) said “Somewhat.” There were 538 (52.4%) respondents who answered that reports in the news or social media that made DTC-GT seem like a good idea would influence them very little (See Figure 4).

Figure 4:

Figure 4:

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Responses to the question, “How motivated would you be to have DTC genetic testing if…”

When asked how much they thought DTC-GT could provide useful or interesting information about certain topics, 568 (55.4%) said “A lot” about their ancestry, 471 (45.9%) said “A lot” about family relationships (e.g., paternity), 404 (39.4%) said “A lot” about managing their health, 281 (27.4%) said “A lot” about their personal traits, and 172 (16.8%) said “A lot” about infidelity (See Figure 5). More than half (526 [51.3%]) thought that DTC-GT could provide very little information about infidelity.

Figure 5:

Figure 5:

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Responses to the question, “How much do you think that DTC genetic testing could provide useful or interesting information about…”

Concerns about DTC-GT

When asked how much control individuals should have over who may use their DTC-GT data, 809 (78.8%) respondents answered “A lot,” 177 (17.3%) said “Some,” and 40 (3.9%) answered “Very little.” Figure 6 illustrates respondents’ concerns about anonymity breaches, confidentiality breaches, and infringement upon solitude. Of all participants, 507 (49.4%) were very concerned that DTC-GT companies would fail to protect their identity, 489 (47.7%) said the same about sharing information without their consent, 428 (41.7%) said the same about providing unsolicited advertisements or emails, and 391 (38.1%) said the same about providing unsolicited health information.

Figure 6:

Figure 6:

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Responses to the question, “How concerned are you that DTC Respondents were also asked how genetic testing companies would…”

Respondents also reported concerns about how downstream users (e.g., pharmaceutical companies or university research centers) might use their data. Of the respondents, 429 (41.8%) were very concerned, and 468 (45.6%) were somewhat concerned, that these users of their DTC-GT results would fail to protect their privacy (See Figure 7).

Figure 7:

Figure 7:

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Responses to the question, “How concerned are you that users of your results will fail to protect your privacy?”

When asked whether users of their DTC-GT data should report new results (i.e., results generated beyond their initial testing) back to participants if such results indicated health concerns (e.g., an increased risk of developing breast cancer or an increased risk of addiction), 606 (59.1%) said “Always”, 378 (36.8%) indicated that they should report only serious health risks back, and 42 (4.1%) said “Never” (See Figure 8).

Figure 8:

Figure 8:

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Responses to the question, “When do you believe that users of your DTC genetic test should report new results to you that indicate health concerns?”

Respondents generally felt fairly confident that they could understand the results of DTC-GT. When asked to assess their ability to comprehend results, 275 (26.8%) said that they would accurately understand their results without any help from an expert; 558 (54.4%) said that they would understand some of their results but would prefer help from an expert; 134 (13.1%) said that they would need an expert or genetic counselor to help them understand their results; and 59 (5.8%) respondents were unsure about their capabilities to understand DTC-GT results.

Respondents were also asked how concerned they were that DTC-GT would reveal to them that they had a greater chance of developing an incurable disease, such as Alzheimer’s disease. Of all respondents, 180 (17.5%) were very concerned, 466 (45.4%) were moderately concerned, and 380 (37.0%) were not very concerned.

Given various types of DTC-GT results, respondents were then asked how concerned they were that they would disrupt their family relationships. Such concerns were generally low: 150 (14.6%) said “A lot” for health results, 105 (10.2%) said “A lot” for ancestry results, 98 (9.6%) said “A lot” for results about their personal traits, 100 (9.7%) said “A lot” for paternity results, and 93 (9.1%) said “A lot” for infidelity results (See Figure 9).

Figure 9:

Figure 9:

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Responses to the question, “How concerned are you that genetic test results about the following would disrupt your family relationships?”

Use of DTC-GT Results

Respondents were asked with which groups they were comfortable sharing their DTC-GT results (e.g., to support research, for their personal care, or some other purpose). They were asked to mark all that applied: 646 (63.0%) respondents felt comfortable sharing results with academic institutions, 371 (36.2%) with third party companies required to provide the same privacy protections as the DTC-GT company, 147 (14.3%) with the government, 63 (6.1%) with commercial entities like Google or IBM, and 57 (5.6%) with people outside of the U.S. (see Figure 10).

Figure 10:

Figure 10:

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Responses to the question, “With which of the following groups are you comfortable sharing your DTC genetic testing results?”

When asked whether or not they would be willing to allow the results of DTC-GT to be used in research, 241 (23.5%) respondents said yes, even if their results were fully identified as theirs; 646 (63.0%) said yes, but only if their results were stripped of any identifying information; and 139 (13.5%) said “Never.”

Law Enforcement and DTC-GT

Respondents were asked about their concerns surrounding law enforcement access to DTC genetic testing results. Of all respondents, 375 (36.5%) reported “A lot” of concern, 413 (40.3%) were “Somewhat” concerned, and 238 (23.2%) reported “Very little” concern (Figure 11). Respondents were also asked about the extent to which they felt law enforcement should have access to people’s DTC genetic test results to use for investigative purposes, either before or after a crime has been committed. Respondents appeared to be much more permissive of law enforcement accessing DTC genetic tests result to solve a crime than to prevent a crime: 734 (72.4%) of respondents said that law enforcement should have “very little” access to DTC genetic test results before a crime had been committed, while only 270 (26.3%) said that law enforcement should have “very little” access after a crime had been committed (Figure 12).

Figure 11:

Figure 11:

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Responses to the question, “To what extent are you concerned that law enforcement can access peoples’ DTC-GT test results?”

Figure 12:

Figure 12:

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Responses to the question, “To what extent should law enforcement have access to people’s DTC genetic test results to use for investigative purposes?”

Discussion

Most of the research on the impact of genetic testing to date has taken place in the context of clinical care or medical research and has demonstrated that people are often motivated by health care concerns and have a variety of worries about how the data are used.23,24 The views of individuals regarding DTC-GT,25 which by definition is not mediated through the health care system and which is discretionary, provide additional perspectives on the public’s opinions about genetic testing. One critical observation is that, despite increasing advertisement of these services and the growing numbers of people who have enrolled,26 these highly computer-literate individuals largely have not pursued DTC-GT and do not know many people who have. The latter fact is particularly important since they report that the views of relatives and close friends would be more important in shaping their interest than social media. This observation underscores the need to learn more about the impact of social factors on the uptake of genetic testing, influences that to date have been under examined.

These respondents stated that they would be most interested in obtaining ancestry information from DTC-GT, which is consistent with the fact that genealogy and ancestry are the second most common hobby and reason for internet searches in the United States.27 They ultimately would be driven to use these services, however, to address their own and their relatives’ health issues. This is concerning given the limited amount of FDA-authorized genetic health reports currently on the market5 and early indications that much of this information may be of questionable utility to consumers.28,29

Like many others, these respondents overwhelmingly seek to control their data and express a variety of concerns about who would get access to their data. Given the wide variation in the data privacy policies adopted by DTC-GT companies8 and the efforts of some companies to monetize their consumers’ genetic data, these respondents’ desires to have control and to be protected are not likely to be met. At the same time, these respondents were quite willing to permit data to be used for research, especially if they were de-identified, as has been observed in many previous studies.23,30 Their greater preference to allow data about them to be used by academic researchers than by companies, the government, and people outside the United States is concordant with what has been observed in earlier studies.31,32 Respondents also expressed varying degrees of concern about law enforcement access to DTC-GT test results in the context of criminal investigations. Respondents overwhelmingly believed that law enforcement should have very little access to DTC-GT data in context of crime prevention, but were much more permissive of law enforcement use of such data to solve crimes.

These members of Amazon Mechanical Turk, like many research participants, generally would want to obtain additional health-related results as they became available.33 Yet only a quarter say that feel confident that they can interpret these data without assistance, with more than 50% saying that they would appreciate expert assistance and the remainder saying that they would require that help. Since DTC-GT companies generally do not provide counseling, these results will place additional burdens on a health care system that already has insufficient numbers of geneticists and genetic counselors to meet the needs of patients who need clinical care. Indeed, reports indicate that many consumers are beginning to seek guidance on DTC-GT results from their primary care physicians, who may also be ill-equipped to interpret the results. Furthermore, emerging evidence suggests that returning results may, in some cases, lead to health care interventions of unclear value.34

Limitations

Although a small cohort of undergraduate students at Vanderbilt University was able to correctly interpret our survey questions, this does not rigorously demonstrate that the broader MTurk population found all questions thoroughly understandable. MTurk has been shown to offer a diverse population that includes significant ranges of age, education level, and socioeconomic status. But while demographically diverse in some respects, we note that MTurk workers tend to be predominately white, and are generally younger and more highly educated when compared to the entire U.S. population (See Table 1).35 Potential distinctions within our survey population remain largely unexamined. For example, non-white respondents may not share similar concerns with white respondents relating to law enforcement’s involvement with DTC-GT. Furthermore, young respondents may generally have less experience regarding the social pressures inherent in having children. It is also worth noting that because the majority of our respondents reported that they had not undergone DTC-GT, most questions were hypothetical for them. Nonetheless, our results provided intriguing signals about areas that require further study.

Conclusion

DTC-GT is a source of individual genetic information that is particularly fraught with incomplete and often misleading results. Despite concerns about the validity and utility of DTC-GT, it appears as though at-home genetic testing is here to stay for a host of purposes.27,36,37 In particular, as consumers attempt to decipher their health risks using such services, increasing numbers of people will turn to clinicians, seeking understanding of their results and guidance about managing their health. This has led to increasing debate about how providers and DTC-GT companies should respond to this influx.

The American College of Medical Genetics and Genomics (ACMG) claimed that DTC-GT companies should be more transparent by indicating their laboratory’s accreditation, clearly communicating privacy policies, demonstrating the validity and utility of their testing options, and providing consumers with access to genetics experts.38 It is evident that there is a growing demand for reliable interpretation of DTC-GT results, which neither providers nor DTC-GT are prepared to fulfill. While it would be beneficial to minimize the inappropriate use of healthcare resources based on DTC-GT results, it is crucial to educate providers about DTC-GT so that they may help patients who have concerns about their testing results. The medical informatics community should take charge of this issue by developing decision support for clinicians to handle such situations.

Acknowledgements

This work was sponsored in part by the Center for Genetic Privacy and Identity in Community Settings (GetPreCiSe) through a grant from the National Human Genome Research Institute, National Institutes of Health (#RM1HG009034). The authors wish to thank the members of the center for their assistance in the review of the survey questions and refinement of the study.

Footnotes

a

Here we described the purpose, approximate duration (five to ten minutes), expected costs, risks and benefits, content, and expected compensation of our study.

b

We removed these 34 submissions after having deleted duplicates and incomplete submissions. Furthermore, a few of the MTurk entries had no REDCap submissions to match them. These respondents were not paid.

c

We encountered repeated cases of Worker IDs within the exported REDCap dataset, suggesting that workers took the survey twice. In these cases, we removed all surveys that an individual submitted after their first submission.

d

Every question required an answer so that we could conduct thorough and consistent analysis; surveys that were either exited or not completed were not considered, and we did not pay respondents who submitted such results.

e

We were able to determine the legitimacy of MTurk worker responses by inspecting the relationship between average Likert scale scores and their standard deviations. We assumed relatively high standard deviations indicated that respondents were answering questions thoughtfully.

Figures & Table

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