Exploring Dutch Citizens’ Perspectives, Expectations, and Decision-Making Regarding Health-Related Direct-to-Consumer Genetic Testing

Abstract

Introduction

Qualitative insights into European citizens’ beliefs, expectations, attitudes, and factors relevant for decision-making regarding health-related direct-to-consumer genetic testing (DTC-GT) are scarce. Assessment thereof is essential to eventually empower them for informed decision-making and responsible use regarding DTC-GT.

Methods

Twenty semi-structured, in-person interviews were conducted with a cohort of sociodemographically diverse Dutch citizens. During the interview, participants viewed an informative video regarding DTC-GT to ensure baseline knowledge, and hypothetical company materials, including an estimated disease risk, to assess the reactions of citizens to such materials. Interviews were transcribed verbatim and thematically analyzed.

Results

Participants were generally unaware of health-related DTC-GT prior to the interview invite. Participants expressed sizeable expectations across the entire DTC-GT consumer journey and demonstrated several recurring misconceptions. Participants also indicated distrust towards DTC-GT sellers and their practices and expressed dissatisfaction concerning the hypothetical results they received. Most participants indicated they would not be willing to undergo DTC-GT but provided argumentation and weight of each argument was unique to each participant, indicating unique decision-making processes. Price was an important modifying factor in participants’ decision-making. Participants suggested information provision by independent parties, development of quality marks, and implementation of enforceable regulation and legislation to support their decision-making.

Conclusions

Participants’ expectations regarding health-related DTC-GT and towards DTC-GT sellers appear sizeable and decision-making very personal. Stimulating informed decision-making through enhancement of information provision, (social) media campaigns, education, development of quality marks, and implementation of enforceable regulation and legislation could aid in empowering citizens for responsible use of DTC-GT.

Introduction

Health-related direct-to-consumer genetic tests (DTC-GTs) are DNA tests that members of the general public can directly buy from commercial companies. These health-related DTC-GTs inform consumers about their personal health and disease risks, based on consumers’ genetic make-up. Oftentimes, there is no qualified health care professional (HCP) involved in this process [1]. A recently published DTC-GT consumer journey framework allows evaluation of DTC-GT services from the perspectives of policymakers and regulators for intervention purposes. This framework consists of six stages and covers the initial exposure of the consumer to the testing offer, pre-test information, DNA analysis, data storage, post-test information, and the experienced impacts of DTC-GTs [2]. It is however paramount to also consider the general public’s perspectives and attitudes towards DTC-GT, to ensure alignment of potential actions by policymakers and regulators with the public’s views.

Previous studies regarding factors associated with the general public’s awareness and attitudes regarding DTC-GT have provided inconclusive results, likely largely due to sociodemographic differences in study populations. For instance, a systematic review showed that the general public’s awareness of the existence of DTC-GT across studies worldwide was relatively low, ranging from less than 8% to around 50% of people being aware. Similarly, positive attitudes towards undergoing DTC-GT also ranged from 5% to 82% across studies, with “curiosity” and “interest in improving and monitoring health” being the main reasons underlying the positive attitudes [3]. A follow-up systematic review focusing on European countries reached broadly similar conclusions [4]. Sociodemographic characteristics that have been associated with DTC-GT awareness and attitudes include age, gender, religiousness, education level, residence, and ethnicity [5–13].

Most work focusing on public perceptions concerning DTC-GT has however been done in the USA. A recent systematic review [4] that builds upon an earlier systematic review [3] identified just twelve European studies examining public perceptions of health-related DTC-GT published to date, with limited publication of articles fitting that scope since then (e.g., [14, 15]). Among these studies, there were only two qualitative ones [16, 17]. These scarce studies have however identified differences in public perceptions regarding health-related DTC-GT between Americans and Europeans, as well as between citizens of different European countries [3, 4, 17], possibly owing to differences in public health care system organization [17], DTC-GT market composition [18, 19], legislation [20], and study methodology [17]. These findings underscore the importance of initiating studies into public perceptions of health-related DTC-GT across different countries worldwide and within Europe, among sociodemographically diverse groups of citizens from these countries. This sociodemographic diversity should not only be strived for with regard to presently known characteristics associated with (health-related) DTC-GT attitudes as described but also other potentially relevant ones, such as (health) literacy and numeracy, since it is known that health literacy and numeracy play an important role concerning medical- and health-related decision-making, with millions of people having low (health) literacy and/or numeracy skills [21–25].

Thus, there is an evident need for studies, and in particular qualitative studies, exploring the perspectives, expectations, and factors involved in people’s decision-making in the context of health-related DTC-GT in sociodemographically diverse population samples from European countries. A better understanding of European people’s views, expectations, and decision-making processes could ultimately help identify potential avenues to empower them for responsible use of health-related DTC-GT. To this end, the aim of the current study was to contribute to broadening the insights into the diversity of perspectives, expectations, and factors relevant in decision-making regarding health-related DTC-GT in European populations, by means of qualitatively interviewing a sociodemographically diverse cohort of Dutch citizens. As such, in the Results section, a broad overview of categories and themes that emerged from the interviews will be provided. Subsequently, in the Discussion section, the results will be aggregated and interpreted in light of previously published studies, and novel insights will be highlighted.

Methods

Recruitment and Selection

Recruitment of participants for interviews was done via an online Dutch research agency panel (https://www.flycatcher.eu/). Given that the interviews would be conducted in Dutch to facilitate and stimulate comfortable expression of thoughts by participants, only Dutch-speaking inhabitants were eligible for participation. Thus, we here define Dutch citizens as Dutch-speaking inhabitants of the Netherlands. A selection survey (in Dutch) regarding prior DTC-GT usage, religious beliefs, health literacy [26, 27], and numeracy [28] was sent out to members of this Dutch research panel that is representative for the general Dutch public in terms of sociodemographic characteristics. The sole purpose of this survey was to identify respondents willing and eligible to participate in an interview about their perspectives and expectations concerning health-related DTC-GT.

Recruitment was open for 7 days. A total of 5,443 respondents responded to the survey (response rate: 68.5%), with 649 respondents (12%) indicating willingness to participate in an interview. The research agency subsequently provided the survey answers and sociodemographic data of only these 649 respondents. Of these 649 respondents, 606 (93%) were initially deemed eligible to participate in an interview based on them stating they had not having previously done a DTC-GT. The selection of respondents that were actually invited for an interview was made based on respondents’ answers to the survey with regard to health literacy and numeracy levels, religious beliefs, and other sociodemographic characteristics about the respondents supplied by the research agency that were previously shown to be relevant for awareness and knowledge of DTC-GT related aspects as mentioned [5–13]. These characteristics included age, gender, education level, residence, and migrant status. Thus, selected respondents spoke Dutch and lived in the Netherlands, had not previously undergone DTC-GT, and varied in their respective individual sociodemographic backgrounds, health literacy, and numeracy. As a result, a range of beliefs, perspectives, expectations, and factors relevant for decision-making regarding health-related DTC-GT could be explored within a sociodemographically diverse group of citizens living in the Netherlands.

Interviews

Since it takes up to approximately 17 interviews to reach saturation for this type of descriptive qualitative work [29], twenty interviews were planned and conducted between October 2023 and January 2024. Selected candidates were invited via e-mail, and reminded when necessary, for in-person, one-on-one, semi-structured interviews with the first author (D.B.). Of 39 approached respondents, 13 (33%) did not respond to either the initial or reminder e-mail. Of the remaining 26, 2 (5%) stopped responding prior to telephonic scheduling of an interview, and 4 (10%) cancelled before the interview could be conducted for various reasons (being sick, not having time). All contact with participants occurred directly via the interviewer and interviews were conducted in person, to increase trust and facilitate participation and data collection [30, 31].

All interviews were conducted in Dutch. At the start of the interview, a short verbal introduction about the interviewer and the study was provided, after which written informed consent for usage of interview data was obtained. Topics covered in the interview, such as informational needs and preferences concerning health-related DTC-GT, can be found in online supplementary Materials I: Topic Guide (for all online suppl. material, see https://doi.org/10.1159/000547527). During the interview, after assessing pre-interview awareness and knowledge regarding health-related DTC-GT, participants were shown a self-made 5 min video in Dutch with basic information regarding DNA and health-related DTC-GT. The slides utilized in this video, as well as an English translation of the script can be found in online supplementary Materials II: Informatory Video (Slides & Script). Finally, to gauge how participants respond to hypothetical DTC-GT-related materials, they were shown a mock seller’s Website, as well as a mock health-related DTC-GT result (both in Dutch). Materials pertaining hereto can be found in online supplementary Materials III: Hypothetical Company Materials (Website & Result). All materials were developed in consultation with a citizen forum consisting of 11 sociodemographically diverse Dutch citizens in terms of gender, age, education level, migrant status, religion, health literacy, and DTC-GT consumption to maximize understandability of the materials.

All interview audio recordings were transcribed verbatim in Dutch and transcripts were imported into MaxQDA (version 2022) for data analysis. Data analysis was performed on transcripts in Dutch, and subsequently relevant quotes were translated into English by the first author (D.B.). As a guideline for data analysis, Braun and Clarke’s 6-stage approach to thematic analysis was used [32]. Two coders (D.B. and S.M.O.) first familiarized themselves with the data from five interviews. They inductively generated initial codes from these interviews. Initial codes were subsequently discussed with a group of four authors (D.B., S.M.O., O.C.D., and T.R.), and consensus was reached on a preliminary codebook. This codebook was piloted by two coders (D.B. and S.M.O.) independently on a previously unanalyzed interview (n = 1) to assess completeness and usability of the codebook. Discrepancies in coding were noted and discussed until resolved, after which the codebook was finalized. The codebook can be found in online supplementary Materials IV: Codebook. Subsequently, all interviews (n = 20) were deductively coded by the first author. No novel topics were identified during analysis of the last interviews. Thereafter, themes were searched for, reviewed, defined, and named. Finally, identified themes were discussed with all other authors and then finalized.

Results

Participant Demographics and Interview Length

Interview lengths varied between 90 and 135 min. Table 1 shows the distribution of participants according to relevant sociodemographic characteristics.

Table 1.

Sociodemographic characteristics of interview participants

Characteristics	Participants (n = 20), N (%)
Age
18–39 years	6 (30)
40–59 years	7 (35)
≥60 years	7 (35)
Gender
Female	11 (55)
Male	9 (45)
Education level
Lowa	6 (30)
Intermediateb	4 (20)
Highc	10 (50)
Religion
None	9 (45)
Protestant	4 (20)
Catholic	5 (25)
Humanist	1 (5)
Jehovah’s witness	1 (5)
Western and non-Western migrant status
Dutch, Dutch parents	16 (80)
Dutch, 1 Polish parent	1 (5)
Dutch, Surinamese parents	1 (5)
Chinese	1 (5)
Indonesian	1 (5)
Province of inhabitance
North-Holland	3 (15)
South-Holland	3 (15)
Utrecht	1 (5)
North-Brabant	4 (20)
Limburg	1 (5)
Gelderland	4 (20)
Overijssel	1 (5)
Flevoland	1 (5)
Friesland	1 (5)
Zeeland	1 (5)
Health literacy (HL)d
High	10 (50)
Low	10 (50)
Numeracye
High	9 (45)
Low	11 (55)

^aPrimary school, lower level of secondary school, lower vocational training.

^bHigher level of secondary school, intermediate vocational training.

^cHigher vocational training, university.

^dMeasured using participants’ responses to validated Dutch translation of “Confident with Forms” question originally defined by Chew et al. [26]. Participants selecting responses “helemaal niet zeker,” “een klein beetje zeker,” or “een beetje zeker” were classified as having low health literacy (ref. [27] in manuscript).

^eMeasured using Dutch translation of the single-item (median) Berlin Numeracy Test, which estimates those that answer correct as being in the top half of participants in terms of numeracy (designated as “high”), whereas those that answer incorrectly belong to the bottom half (designated as “low”) (ref. [28] in original manuscript).

Themes and Categories

A total of 13 descriptive themes were identified concerning participants’ perspectives, expectations, and factors relevant for decision-making in the context of health-related DTC-GT. These themes were categorized into three categories, as shown in Figure 1: (1) Beliefs, attitudes, expectations, and experience (8 themes); (2) interest and argumentation (2 themes); and (3) desired support (3 themes). As stated in the Introduction, all categories and themes will be broadly illustrated in this section. Subsequently, a synthesis of relevant findings and novel insights, as well as how these correspond with previously published literature, will be presented in the Discussion. Numbered quotes supporting descriptive themes can be found in Table 2 and are consistently referenced in text where relevant, for example, (Q1).

Fig. 1.

Data structuration. Outer ring: emerged themes that were related to Dutch citizens’ beliefs, attitudes, expectations, potential misconceptions, and factors involved in decision-making in the context of DTC-GT. Inner ring: categorization of emerged themes.

Table 2.

Quotes supporting themes^a

Theme	Quote	Quote number
Sporadic awareness of DTC-GT	“…I have previously seen a commercial about ordering an at-home kit, that you can trace your entire family, family tree and such. Yeah… [Interviewer: ‘So how did you first come into contact with the concept of health-related at-home DNA testing?’] Yeah, via here. I’d never heard of that before.” (P10, M51, HL+, Ex−, l.63–66)	Q1
	“Yeah, I’ve previously considered it. I thought: well, here in the Netherlands we don’t really do that, but a sort of general check-up. Look, I believe that’s rather normal in America, or other countries, that you just do that every once in a while. And of course sometimes private clinics advertise it sometimes, like: ‘Want to know how your health is doing?’. More that I thought: well, that might be handy to do some time.” (P1, F38, HL+, Ex−, l.24)	Q2
High expectations regarding pre-test information provision by seller	“I think that, before I buy it, they [the seller] will explain what they’re going to test and also generally how they’re going to do that. I also expect them to tell me how long the entire process is going to take, and that they explain in advance how to take such a test. That’s what I think really, the practical matters.” (P1, F38, HL+, Ex−, l.88)	Q3
	“Being clear in what they offer, what they look at, so that it’s easy, nice and clear, easy to read. Not using all types of fancy words to frighten people with how important or useful it [the test] may be.” (P3, F53, HL−, Ex−, l.171)	Q4
	“Well, I’d assume there’s a very good leaflet with a very clear explanation with it [the test kit]. I have to say, those COVID-19 tests had very nice leaflets, because there’s figures in those: “twist, close”. So I think imaging or images on a leaflet is, often when people struggle to read the text, something I’d run into myself, they think: “Oh, this relates to that image, that’s clear, that combination.” (P9, F66, HL−, Ex−, l.124)	Q5
	“… And that I don’t have any questions, that I can find anything for any questions I have, then I would order it. Or else I’d ask via mail or telephone like: ‘How long is this going to take’, or for example: ‘What does this mean?’, if there’s too many complicated words.” (P12, F53, HL+, Ex−, l.146)	Q6
	“Well, if I look at the text: ‘Types [of tests]’, ‘How it works’, ‘Information’, ‘About us’… ‘FAQ’, I’d initially click on that. Good visibility. Nicely quiet website. I also see ‘Reviews’, I’d also click that… Yeah I see enough headings that I’d click.” (P12, F53, HL+, Ex−, l.456–460)	Q7
Distrust towards DTC-GT sellers	“I think a commercial company is solely focused on making money… That they also want to push some additional sales… I see a commercial interest not just in selling the test, but also: ‘How can we further reel in this customer’… That there’s an advice like: ‘Well you’ll definitely have to re-do this test once every year’… Yeah, that type of customer retention.” (P3, F53, HL−, Ex− l.96–102)	Q8
	“…But I can imagine that not all of those companies have everything in order. Worst case, you can have the feeling that that company sells on your data… Well, imagine that you can discover that I have a higher risk for some sort of disease with these tests and you sell that on to an insurer and that insurer sees: ‘Hey, you’ve got a higher risk for that disease’, what would that mean for getting insurance?… I can imagine that there’s multiple parties that are interested in seeing those things.” (P7, M33, HL+, Ex−, l.224–230)	Q9
	“Just the slogan already makes me nauseous. ‘The star in your own story’, that’s horrible… Yeah, well, you’d lose me here… No, this is a company I would definitely skip.” (P6, F65, HL−, Ex+, l.533–539)	Q10
	“My Ancestry”, “My Ideal Partner” (laughs) huh? Is that something you can do nowadays? That’s hilarious. Uh, “My Health”, alright. Well, the way I see this, you’d always do either the “My Ancestry” or “My Health” and then I’m thinking: “Oh wow, why is that one [‘My Perfect Partner’] in between?” ‘My Ideal Partner’, come on. That makes me take the other two less seriously.” [Interviewer: “So the test in the middle [‘My Perfect Partner’] detracts from the other two tests this seller sells?”] “Absolutely, I’d click away immediately. I don’t take it seriously based on this one. Yeah.” (P12, F53, HL+, Ex−, l.114-116)	Q11
Contrasting test-related expectations	“Yeah, for example tests on saliva samples, or urine, or feces, but stuff a consumer can easily do themselves, where there’s a very small chance you do it wrong.” (P1, F38, HL+, Ex− l.4)	Q12
	“And I also consider the professionalism of taking such a test, because if you have to take such a thing [sample] yourself… I just wonder if everyone reads the instructions carefully enough and is capable enough to do that. I think in the hospital, if it’s done for you and the people are experts… that the results from such a throat swab or whatever you have to send in, that that’s more accurate.” (P11, F22, HL+, Ex−, l.16)	Q13
	“Well, if I were to do such a test, I’d want it to be as complete as possible, and thus test for as many variants as possible. So that I have the feeling that I have the best possible overview of my own DNA. And I think you can only get that if you test all, I don’t know if that’s possible, but at least as many variants as possible… I’d be thinking: if I do it, then give me all of the information you can get out of it, so to say.” (P5, F22, HL−, Ex−, l.136–140)	Q14
	“…So for me it’d be purely diet, uh, because I used to suffer stomach aches, so to say… No, I wouldn’t just randomly go: ‘Well, let’s go, for I-don’t-know how many euros and also not for a tenner, buy something to check everything.” (P7, M33, HL+, Ex-, l.284–286)	Q15
	“Uh, that depends on what you were tested for, but I expect, like I said, maybe you get something like: ‘Yeah, you’ve got variant X23 and that can be associated with, or we see that often in people with a tomato allergy, if we’re talking about food. Or you’ve got variant this-and-that and we often see that in people with cardiovascular disease, diabetes, that type of stuff. I think that you’ll get the results back in that type of way. And maybe they’ll eventually put a percentage on that like: based on your genetic genome you’ve got a certain percentage risk for cardiovascular disease or something. But I’m not sure if they’ll do that. And like I said earlier, maybe they’ll keep it a bit more general and just say: ‘Alright, you’ve got variant this-and-that, could be associated with this-and-that’.” (P11, F22, HL+, Ex−, l.160)	Q16
	“Uh, yeah, I’m thinking about that people want to detect certain things, for example if they have a urinary tract infection, or a hereditary gene, which might be in your body… I don’t think that, as a consumer, you’re capable of detecting something severe like cancer through a DNA-test, more something like a urinary tract infection. For example, sometimes you read about people that have Alzheimer’s, uh, already have that, but do not show all symptoms yet, or another disease, that you can already detect that earlier in urine. For example that those types of diseases can come to the surface with such a DNA-test.” (P1, F38, HL+, Ex−, l.9–12)	Q17
	“Yeah, what they’ll be able to detect in the future, they can already also detect now, I think. [Interviewer: ‘So if you would have a disease you’re not currently aware of yet, you think the test would be able to detect that?’] Yes, yes.” (P4, M68, HL+, Ex−, l.56)	Q18
	“And my first thoughts about it [DTC-GT] is kind of that I’m thinking: well, I have to see to what degree it is correct and, uh, to what degree I believe in that. … Also because there’s no doctor involved or, uh, geneticist or something that concerns DNA, I’m relatively skeptical about the degree to which regular people, or at least manufacturers of something like this, can distill something useful out of it.” (P11, F22, HL+, Ex−, l.2–4)	Q19
	“I don’t think there’s a lot of difference. I think that the methods, that they’re based on the same technique. I wouldn’t be surprised if those samples end up in the same laboratories, whether it’s sent from the hospital to the lab, or if you have it sent to the lab via such a kit.” (P14, M35, HL−, Ex−, l.104–114)	Q20
	“I think those results [DTC-GT vs. hospital genetic test] will largely overlap, in like 80% of cases or something.“ (P18, F31, HL+, Ex−, l.296)	Q21
	“Uh, well, nutritional tips… to the extent that those are recommended, for example, for me to eat more carbohydrates and less fats and sugars, or the exact opposite or something. And with exercise, that I absolutely shouldn’t do an endurance-based sports, but rather weights or stuff, that that would fit me the best based on my DNA.” (P6, F65, HL-, Ex-, l.421–424)	Q22
	“Well, I think those recommendations, would not be specifically related to my situation then. Like: ‘Yeah, eat two apples a day… start exercising more.’ Yeah, great, but those are low-hanging fruits.” (P12, F53, HL+, Ex−, l.88–90)	Q23
High expectations regarding post-test support and information	“Yeah, I think that if I, uh, decide to have it studied, I’d definitely follow those [tips], yeah, because I’m curious about the results… I’d compare it to a construction inspection of a house you’d like to buy. So that you know, even if there’s something wrong with it, that’s fine, but you want to know, because then you can do something about it. That’s how I’m looking at it… You can do something about it then.” (P6, F65, HL−, Ex−, l.427–437)	Q24
	“Yeah, I’d leave out the broccoli, but the white chocolate… I don’t know. Because that [chocolate] is more tasty, a bit of relaxation.” (P2, F71, HL−, Ex−, l.450–472)	Q25
	“Yeah, that depends on how effective those actions are. If they’re very effective you’d be inclined to follow them. Are they moderately effective and will you be missing out on a lot due to it, you’re not going to follow them.” (P13, M52, HL−, Ex−, l.559)	Q26
	“Look, some people need a wake-up call and I think I’m one of those people. So if they’re saying like: ‘Yeah, you need to change your lifestyle, because otherwise within ten years you’ll develop this and that’, then that doesn’t trigger me… I already know now that I have to make some changes, but I’m also not doing that yet now, so yeah.” (P10, M51, HL+, Ex−, l.454–464)	Q27
	“Uh, I think there’s a certain degree of support… I think that they will write something like: ‘this [variant] is associated with this and this [trait]’ maybe if you click ‘learn more’ or something like that, that you get some more explanation like: ‘what does this mean?’… I think that there might be a customer service or something, or that you can call someone in the lab about the results, what they mean, that type of stuff. I think that if you don’t specifically ask for it, you will not get personal support or contact… No, I don’t believe that that’s included in your package by default.” (P11, F22, HL+, Ex−, l.206–212)	Q28
	“Well, if there’s just happy stuff in it [results], then I’m over the moon, nothing to worry about… But if it says: ‘heart failure can be an issue at your age’, then I’m thinking: ‘Goshdarnit, take action, how am I fixing this?’… Look, if they (seller) are coming back with a result that says stuff that has me thinking: ‘I’ve got to do something with this’, then I’m going to my GP.” (P4, M68, HL+, Ex−, l.44–54)	Q29
	“I think a GP says, ‘Alright, fine, I’ll refer you to someone [HCP] who will follow-up on the matter, that will also do a test.’. I also think it’s best for them to, if they see someone with something like this, refer them to someone that, yeah, really know genes and does a lot of research into that… The part of the health care world that focuses on genetics.” (P18, F31, HL+, Ex−, l.370–378)	Q30
	“He (GP) will pick it up. Imagine diabetes comes out of it, well, he might have to do a second test, but that seems rather illogical because you’ve already done the DNA-test. I think he’ll pick it up and counsel you for your diabetes.” (P20, M60, HL−, Ex−, l.652–656)	Q31
Foreseen impacts of undergoing DTC-GT: taking action, stress, and follow-up	“I think that [the impact] various significantly from person to person. I can imagine that for example a food allergy test, that that can be very practical… I think it can help society and also partially the health care system, that you’re not going there unnecessarily like: ‘I’m suffering from this and that’. But I’m also afraid that it can give societal unrest, if you can test really large stuff like serious diseases… you have to be careful with that.” (P1, F38, HL+, Ex−, l.178–184)	Q32
	“Yeah well look, I’d go to the GP and then I’d say: ‘I’ve got an increased risk for breast cancer, that came out of the thingy [DTC-GT], I’ve had some lifestyle tips that I’ll follow, but should I consult a specialist with the question whether it’s needed to check this everywhere or once every five years?’, so I’d definitely do something with the results… And maybe, I’ve got four sisters, if I actually had this [test] done, I’d say to my sisters: ‘Maybe you should also have this done, check if you’ve got it as well.’, and then you can always go to a specialist together to check like, maybe there’s a hereditary component?… No, no I’d go to the GP regardless [of sisters’ test results], specifically for that breast cancer, because of course that’s hereditary very often. I’ve also got a daughter… Well, CVD can have many other causes and breast cancer almost not at all. Yeah of course the hormones, but that hereditary part is of course very deadly with breast cancer, so I’d take action on that and be like: ‘Hey guys, all of you get that checked out.” (P6, F65, HL−, Ex+, l. 743–789)	Q33
	“I’d be more aware of it, I think, or look into it a bit more, maybe because my grandma had breast cancer. Maybe if I’m really worried I’d contact my GP, look what he’ll advise me. But also do some research online like: what can I do to prevent CVD, how can I check myself for lumps, I might do those things… I’d definitely do those things for breast cancer, and preventing CVD could trigger my interest as well.” [Interviewer: “So I’m understanding you would take action for CVD and breast cancer, but not for your Alzheimer’s disease risk?] ‘Right, that’s because those lifestyle tips were rather useless, and there wasn’t something I’m not presently doing to prevent or delay developing Alzheimer’s disease… But I’m also thinking like: there’s indeed people in my family with breast cancer and CVD… so it feels more logical to take action on those… also because I’m attaching a hereditary component to those in my head because it’s based on DNA.” (P5, F22, HL−, Ex+, l. 562–572)	Q34
	”It says that I have an increased risk for breast cancer, Alzheimer’s disease, and CVD. Well, one point something times [increased risk], depending on the disease. I’m not shocked or something… Slightly increased risk of Alzheimer’s disease. Well 1.3, I think that’s not a high score at all… It also says, yeah, light, 1.3… I’m not shocked.” (P1, F38, HL+, Ex+, l.372–376)	Q35
	“I would definitely not want to see this. This is, like I said in the beginning [of the interview], that I was afraid that I might get scared by such a test when I see its results. And now it’s all either elevated or slightly elevated, of course that plays a role as well. If it all said: ‘lowered, lowered, lowered’, fine. But if I see: ‘increased risk of breast cancer, increased risk of CVD, slightly increased risk of Alzheimer’s disease’, I’d get an acute stress reaction if these would really be my results.” (P11, F22, HL+, Ex+, l.382–384)	Q36
	“Well, one is orange isn’t it?… Alright, then I assume that that’s less, yeah, slightly increased risk and the other is really increased, that’s truly red, that’s truly panic, truly alarming.” (P3, F53, HL−, Ex+, l.665–667)	Q37
	“If it goes from 10% to 13% absolute risk, I find that less shocking. Just seeing the relative numbers causes more concern. I’ve got a 30% increased risk compared to overall risk, but an absolute risk of 13%… That’s quite a difference.” (P14, M35, HL−, Ex+, l.852–858)	Q38
	“But what these results also evoke, is that you could immediately try and pressure a GP into doing further tests and referring you to other HCPs. So you’ll get an enormous pressure on public health care services… with people asking to be turned inside-out due to these test results.” (P17, M75, HL+, Ex+, l.290–294)	Q39
	“It shouldn’t be the case that people do these extra tests and then go to the hospital afterwards. That causes enormous pressure, and of course it’s nonsense, because you haven’t had the test done there. It’s like buying a second-hand car at one garage and then going to a different garage to have it fixed. Go back to where it came from and have it fixed there… You can also compare it to Turkish beauty treatments and then coming back to the Netherlands with rotting legs and such… Basically we’re trying to repair here what’s happening over there, and I find that scandalous. I’m kind of looking at this [DTC-GT] the same way. Fine if you do it commercially, but stay there then.” (P6, F65, HL−, Ex+, l.917–941)	Q40
Misinterpretation of results and dissatisfaction with DTC-GT service	“Oh, so I’ve got a heightened risk for breast cancer. Alright, how do I have to read this? 1.7x higher, or is my average (risk) 1.7? Oh man, I’m already not understanding this. I would’ve expected the average to be, like, average is, uh, a graph like: the average is 45%, and I’d be either here or there [higher or lower] on that graph. And now I’m thinking: ‘What?’ Do I have a 1.7x heightened chance than what, than who?… So I don’t know how to read this… I’m immediately feeling: ‘I don’t like that’, I like it to be obvious immediately… So do I have to be worried or not?… All of them are elevated, but I currently have no idea if it’s serious or not.” (P3, F53, HL−, Ex+, rl.653–661)	Q41
	“So it says: ‘You’ve got an increased or slightly increased risk’, but what does that mean in terms of number of people? For example, with population screening for breast cancer, they use those red and white figures for people that are affected and unaffected… I’d like to know some more about actual number of affected people.” (P16, F53, HL−, Ex+, l.666–678)	Q42
	So I’ve got a slightly increased risk for Alzheimer’s disease, I’m very curious about that, what’s that based on? On average chance, age and sex, or is that due to my test analysis?… That’s currently not clear. What’s that risk based on?” (P9, F66, HL−, Ex+, l.354–358)	Q43
	“Uh, yeah, in one hundred, I think slightly more than one in a hundred. Yeah, just less than one and a half. So between one and one in a half on a hundred.” (P9, F66, HL−, Ex+ l.460–464)	Q44
	“Yeah, indeed kind of the general stuff I had expected… I don’t think it’s very specific for Alzheimer’s disease. Stuff like ‘don’t smoke, eat healthily, don’t drink too much alcohol and exercise’… I think that’s general stuff to stay healthy… So if I would be seeing this, I’d think: ‘Is this what I paid that money for?” (P5, F22, HL−, Ex+, l.536)	Q45
	“No, I wouldn’t do anything with it… I wouldn’t go to the GP, and I also wouldn’t change up my lifestyle based on their tips, because I feel like the risk is negligible.” (P1, F38, HL+, Ex+, l.412–420)	Q46
	“Alzheimer’s disease isn’t fun and if you can do something about it… Well, if they say, increase your brain activity, well, go make a puzzle… Those tips, you’re giving people something, something they can use.” [Interviewer: So would you follow the tips more now than if you hadn’t seen your hypothetical results?”] “Well, more? I’d be more aware of it with this knowledge in the back of my head.” (P8, M70, HL−, Ex+, l.614–622)	Q47
Recurring misconceptions	“Yeah, for example tests on saliva samples, or urine, or feces, but stuff a consumer can easily do themselves, where there’s a very small chance you do it wrongly.” (P1, F38, HL+, Ex−, l.4)	Q48
	“I’m thinking about a very beautiful kit with a syringe, for taking a fluid puncture somewhere.” (P20, M60, HL−, Ex−, l.2–4)	Q49
	“Well, maybe if you have like celiac disease, or maybe if you have diabetes. That type of simple stuff.” (P16, F53, HL−, Ex−, l.2–9)	Q50
	“Yeah, what they’ll be able to see in the future, they’ll also be able to see now, I think… My golfing buddy told me his back hurt, he went to the doctor and he had fully-metastasized cancer… Those tests [DTC-GTs] might be able to help, if they’re done on time.” [Interviewer: “So if I understand correctly, you envision a role for DTC-GTs in the early detection of those types of disease?”] “Yeah.” (P4, M68, HL+, Ex−, l.56–70)	Q51
	“I don’t currently use medicine, so I think the results will show that. That they don’t all of a sudden say that I’m taking loads of sleeping medication, while I’m not doing that.” (P2, F71, HL−, Ex−, l.136)	Q52
	“I definitely think that getting results from these types of tests can have an effect, that you’re filling in for your kids that you’re passing things on in your family, that you’ll have to keep that in mind for the next generation… Maybe people start doubting if they should even have kids at all, or if they have small kids, that they would consider having them tested as well.” (P3, F53, HL−, Ex−, l.343–347)	Q53
	“Doing these tests can have considerable impact. Knowing that you’re predisposed to certain things can mean you’ll have to start organizing your life differently. For example through deciding to not have kids, but instead adopt or become foster parents, something like that.” (P8, M70, HL−, Ex−, l.308–312)	Q54
	“Imagine diabetes comes out of the test, well, the GP might have to do a second test, but that seems rather illogical because you’ve already done the DNA-test. I think the GP will just pick it up from there and counsel you for your diabetes.” (P20, M60, HL−, Ex−, l.652–656)	Q55
Low interest in undergoing DTC-GT and key arguments therefor	“… I don’t really have a need to know things right now, because I’m not currently worrying about something. And maybe then it might be like: ‘What you don’t know, can’t … [hurt you]’. Imagine that I’d [do it] right now, and then you get it back and you’re thinking like: ‘What?’. And then I have to deal with it. Well, sometimes ignorance is bliss.” (P3, F53, HL−, Ex−, l.491)	Q56
	“It’s mainly just curiosity… Imagine that you would say: ‘We’re offering you the test, at a reasonable price and at a reliable institution’, then I’d consider it because I find it interesting. But had I never been here, I’d have never considered it.” “[Interviewer: ‘But that’s an interesting thought, because at the start [of the interview] you said: ‘No, I wouldn’t do it because it would cause me unnecessary worry if something comes out of it.’] ‘Yeah, so I’m kind of contradicting myself there, yeah… But now that we’re talking about it, that curiosity is definitely being stimulated, so to say.’ [Interviewer: ‘So that curiosity is currently winning?’], ‘Yeah’.” (P10, M51, HL+, Ex−, l.602–624)	Q57
	“No, my opinion has been confirmed by what I’ve seen. I’d even almost actively dissuade people from doing these tests, rather than just leaving it be… Because it’s disappointing and it truly is focused on: ‘We want to make money quickly, but we won’t give people personalized advice, reassurance’.” (P3, F53, HL−, Ex+, l.825–837)	Q58
	“Uh, I might’ve become a little more positive… Well, because of the way the results are presented, with the lifestyle tips and such. But my objection remains, albeit smaller: far from everyone will be able to filter this information properly.” (P8, M70, HL−, Ex+, l.683–689)	Q59
Modifying effects of price on decision-making	“Well firstly, if you’re offering it to me for free, that would be an important argument for me to go: ‘Well, if it’s free, I’m curious, let’s do it!” (P14, M35, HL−, Ex−, l.584–586)	Q60
	“Well, I immediately notice that they’re testing an awful lot for EUR 250. I personally would’ve expected it to be more expensive if you’re testing for so many things… I don’t think the price is matching. [Interviewer: ‘Alright, so just imagine, what if the same test was offered, but instead of the test costing EUR 250, I would’ve but EUR 600 here?’] ‘I would’ve found that more plausible. Yeah, I just think it’s too cheap now… Yeah, I don’t think it’s proportionate, because we paid €150 just to tell if our twins are mono- or dizygotic… This feels too cheap for the actions that are required.” (P1, F38, HL+, Ex+, l.324–346)	Q61
	“What I’m thinking about that [the test price]… I think it’s all very expensive. I can imagine it costs a lot if you have to ship stuff to the lab and such. You’ll have service costs, and people have to be paid. So I can imagine that they’re charging this price. I’d be less trusting if they charged a tenner… EUR 250 to know my health, I’d be thinking: ‘Well, I have to be really curious about my health then.” (P11, F22, HL+, Ex+, l.326–330)	Q62
	“So what can I get for that EUR 250? Can I click them all? Because then I’ll click them all… Yeah, I want to get my money’s worth. It’s about the price now, then I want to know everything I can get… It’s a bit like an all-you-can-eat concept: you’ll get everything you can, instead of making a conscious decision for picking certain things to test for.” (P15, M50, HL+, Ex+, l.764–790)	Q63
Need for reliable, independent information provision	“…A trustworthy site that contains information, or that shows you in advance what a test result could look like… For example by an organization that has knowledge concerning the subject… written by a professional or researcher, someone independent… that gives their opinion and makes it clear to others: how does it go, and what are you paying for. Sort of a comprehensive review written by someone that knows their stuff.” (P11, F22, HL+, Ex+, l.542–546)	Q64
	“Well, the reviews that they provide… those aren’t always true of course.” [Interviewer: “Not always true?”] “Well, everyone can give a review, and if it’s bad it gets deleted.” (P2, F71, HL−, Ex−, l.144–146)	Q65
	“…‘Our team’. Then I can go Googling to see if those people are actual scientists or just investors. Or famous people being ambassadors for these tests. ‘Reviews’, there’s a lot of tampering with that, that’s just reviews placed there by the company itself. Makes me think that it’s a put-up job. Well, ‘Support’, that’s just what they are legally obliged to say: ‘Privacy’, ‘Terms and Conditions’, ‘Cookies’, those don’t add a lot.” (P15, M50, HL+, Ex+, l.703–710)	Q66
	“Well, definitely the seller, they’ll definitely provide information, but of course I’d want a second opinion then. I don’t know if there’s a consumer association or something for that… But I’d like to verify whether that [information provided by seller] is reliable, so to say.” (P10, M51, HL+, Ex−, l.231–252)	Q67
Quality marks	“That does seem very useful to me, so that people can generally better understand what to expect from that test. A quality mark ensures that they work at current scientific standards, and that they’re not some quacks.” [Interviewer: “Alright, and who do you feel should organize and upkeep such a quality mark?”] “I’d say the Consumentenbond [Dutch consumer association] in collaboration with universities. The universities for the scientific underpinnings and scientific quality marks, and the Consumentenbond to communicate it to the public properly.” (P8, M71, HL−, Ex+, l.694–708)	Q68
	“And of course nowadays with all that sustainability and green stuff, you’re being flooded with quality marks. Recently they did a test where they showed people twenty quality marks. Everyone knew them, well it turns out ten of them didn’t even exist. So of course, that’s always difficult information.” (P6, F65, HL−, Ex−, l.301)	Q69
Regulation and legislation	“For this type of stuff I expect and hope that if it expands in the commercial world, that there’s good regulation being developed. About how those reports are made, and what they’re allowed to put in that, which certainties and uncertainties they release onto the consumer… to protect people against false expectations and unwarranted anxiety.” (P8, M71, HL−, Ex−, l.150–160)	Q70
	“You can say: ‘The government has to step in’, but they’re already so busy. They have so many things and responsibilities on their plate. It also makes it a very large issue all of a sudden… If it turns out that it [DTC-GT] is actually very harmful, like gambling, I feel that the government should act. To protect the people, but not if they just, well, lose 250 euros. Then it might just be akin to taking a risk and having bad luck.” (P3, F53, HL−, Ex+, l.857–869)	Q71

Example Q1: (P10, M51, HL+, Ex−, l.63–66): quote by participant 10, a male aged 51 with high health literacy, prior to exposure to mock DTC-GT materials, taken from transcript lines 63–66. Example Q71: (P3, F53, HL−, Ex+, l.857–869): quote by participant 3, a female aged 53 with low health literacy, after exposure to mock DTC-GT materials, taken from transcript lines 857–869.

^aParticipant, gender and age, health literacy high/low, exposure to mock DTC-GT materials yes/no, lines from respective transcript from which quote was taken.

Beliefs, Attitudes, Expectations, and Experience

Sporadic Awareness of DTC-GT

Participants indicated that they were mostly unaware of the existence of health-related DTC-GT prior to being invited for the interviews. Participants that did state they were aware of DTC-GT prior to the interview recruitment message had mainly gained awareness and knowledge through newspaper articles, social media, ads, work, or (extracurricular) classes. Some participants had been aware of the existence of ancestry DTC-GT but not of health-related DTC-GT (Q1). Two participants had actively considered undergoing health-related DTC-GT prior to the selection procedure for the interviews but did not (yet) follow through on this intention (Q2).

High Expectations regarding Pre-Test Information Provision by Seller

Participants said they expected to get all the information they would need to make an informed decision about undergoing health-related DTC-GT from the seller. Participants desired pre-test information about a plethora of aspects related to health-related DTC-GT from sellers (Q3) and noted that it is important that information provided by the seller is clear and easily understandable. To achieve this, participants advocated for sellers to use easy-to-understand language in their pre-test communication towards potential consumers, as well as usage of visuals to convey information (Q4–5). Finally, participants stressed the importance of being able to reach the seller in case they had questions concerning the information provided on the seller’s Website, or if they required additional information that they could not find on a seller’s Website (Q6). When looking at the mock materials, participants generally appreciated the sections of informational tabs presented on the mock seller’s Website pages, stating that they would be likely to visit the pages to which those tabs link to gather information about the test, the company itself, and the people behind it (Q7).

Distrust towards DTC-GT Sellers

Overall distrust in DTC-GT companies and their practices was observed among participants. For example, participants expected companies to push additional sales such as yearly test repeats or supplements. Concerns about selling of consumers’ data to third parties such as insurers, supplement sellers, or pharmaceutical companies were also mentioned as reason for distrust (Q8–9). With regard to the mock materials, participants were turned off by commercial-feeling language utilized on the seller’s Website (Q10), as well as the offer of a “Perfect Partner” test in addition to the health-related DTC-GT offer (Q11), leading to participants feeling uncomfortable with ordering the health-related DTC-GT offered by this hypothetical seller due to distrust.

Contrasting Test-Related Expectations

Participants brought up contrasting views for various test-related expectations. For example, some participants thought taking a sample for the test would be easy to do, whereas others worried that this might be too difficult, causing problems with sample quality (Q12–13). Some wanted results for as many traits as possible, whereas others only wanted to receive results for traits they choose to have results returned for (Q14–15). Some thought the results would provide risk assessments for diseases; others expected definite yes/no answers for whether they currently had certain diseases or not (Q16–18). Some expected these test results to lack reliability for various reasons such as lack of HCP involvement in the testing process, whereas others expected the results to be reliable (Q19–21). Some expected the seller to provide personalized lifestyle tips based on their results, whereas others expected only general lifestyle tips (Q22–23).

High Expectations Regarding Post-Test Support and Information

Participants brought up various reasons to substantiate whether or not they would follow post-test recommendations done by the seller, such as ease of adhering to, and effectiveness of recommended lifestyle tips (Q24–27). They expected that the seller would provide some additional types of post-test support, for example, in the form of offering one-on-one consultations, or operating customer services lines (Q28).

Participants said that they would likely consult an HCP if they deemed their results worrying enough (Q29), with GPs being mentioned most often. HCPs were expected to either initiate referral and/or confirmatory testing for the DTC-GT results, although one participant thought HCPs might trust the DTC-GT result without initiating clinical-grade confirmatory genetic testing (Q30–31).

Foreseen Impacts of Undergoing DTC-GT: Taking Action, Stress, and Follow-Up

Participants named many forms of potential positive and negative impact that undergoing health-related DTC-GT could have on an individual but also on the public health care system and society as a whole. Types of impact mentioned by participants with respect to these three levels are shown in Table 3. Participants focused mostly on impacts on the individual level such as DTC-GT providing opportunities for disease prevention but also risk for receiving unsettling results. However, some participants mentioned impacts on various levels, such as unburdening the health care system and risk for societal unrest (Q32).

Table 3.

Types of potential impact of undergoing health-related DTC-GT participants deemed feasible split across three levels: impact on individual level, impact on the health care system, and impact on society

Level	Positive impact	Negative impact
Individual	Increased awareness of personal disease risks and passing these on to offspring	Fear/unrest/worry/stress about personal health in case of receiving unsettling results
	Increased self-awareness	Worry about passing on disease predisposition to (future) offspring
	Opportunities for prevention or early detection and treatment of disease	Risk for false reassurance and decrease in disease awareness in case of receiving low-risk results
	Inspiring positive health behavior	Impact on desire to have children
	Reassurance in case of receiving low-risk results	​
	Being able to obtain health-related information outside of public health care system	​
Health care system	Preventing people from unnecessarily using public health care resources because they can do tests privately	Risk for unnecessary usage of public health care resources in case of worrying results and/or consumers experiencing (minor) symptoms of diseases for which they are at high risk
	Lowering barrier of going to GP because test results give you reason to go there	​
Society	Increased accessibility of genetic testing	Societal unrest
	​	Insurance problems
	​	Increasing health disparities between people that can and cannot pay for DTC-GT

Participants who stated they intended to take action based on their mock results intended to do so through stimulating family members to undergo health-related DTC-GT to compare results and consulting HCPs about their results. Interestingly, they intended to take these actions based on their hypothetically increased risks for breast cancer and/or cardiovascular disease (which were very briefly shown initially alongside the participant’s hypothetically increased risk for Alzheimer’s disease on which the mock test results focus afterward) rather than for Alzheimer’s disease. This difference in behavioral intent seemed to be related to perceived differences in heredity of disease and family history of breast cancer and cardiovascular disease (Q33–34).

A minority of participants expressed that they would experience psychosocial impact in the form of stress or worry if these mock results were their own, with some indicating that the stress was caused by the color coding of risks (Q35–37). Others were unsure of how concerned these results would make them, since they only had access to their relative risk increase, and not their absolute risk percentage. This indicates that mainly the absolute risk percentage would affect their level of concern (Q38). Additionally, participants mentioned that they foresaw HCPs and the public health care system facing considerable pressure from DTC-GT consumers wanting re-assurance or follow-up testing based on their results (Q39–40).

Misinterpretation of Results and Dissatisfaction with DTC-GT Service

Participants questioned how the mock DTC-GT results were substantiated and how they should interpret them (Q41–43). With regard to perception and interpretation, participants appeared to struggle with accurately inferring their absolute personal disease risk for Alzheimer’s disease after receiving the average population risk and their own relative risk increase (Q44). Participants overall found the provided lifestyle tips generic (Q45) and doubted whether they would implement these lifestyle tips after seeing the results (Q46–47).

Recurring Misconceptions

Several recurring misconceptions regarding DTC-GT were identified. Some participants thought that DTC-GTs could utilize various biological sample types instead of saliva or buccal swabs. Named examples included feces, urine, and blood (Q48–49).

Additionally, several participants thought DTC-GTs could provide information about presence or absence of disease. Named examples include detection of diseases such as diabetes and cancer (Q50–51). Moreover, some participants believed that DTC-GTs could detect current health behaviors (Q52), or that the results of DTC-GTs could be used for medical and/or reproductive decision-making (Q53–55).

Interest and Argumentation

Low Interest in Undergoing DTC-GT and Key Arguments Therefor

Many of the positive and negative potential impacts of undergoing health-related DTC-GT presented in Table 3 were mentioned as arguments in favor or against testing. Arguments that do not directly pertain to impacts, such as “group pressure” or “doubts regarding reliability/objectivity of test results,” and supporting quotes for these arguments are shown in Table 4.

Table 4.

Arguments in favor or against undergoing health-related DTC-GT mentioned by participants unrelated to the potential impacts mentioned in Table 2

Favoring/against testing	Argument	Supporting quote(s)
Favoring testing	Quenching curiosity, “fun” to know	“Well, why? Because man is inherently curious. People like to look in a crystal ball, want to know what’s up. It’s just inherently human.” (P4, M68, HL+, r.108)
	Anonymity	“…under your own management… Well, that afterwards, you have the choice: ‘Do I tell people, or not?’. While, if you go to the hospital, yeah, your family will often already know. You can just do this via the mail, small package, no-one sees. Maybe a bit of anonymity… privacy, own control.” (P3, F53, HL−, r.70–74)
	Getting results quicker than going through public health care system	“Yeah, I always feel like the commercial sector, they work a bit, quicker… While, when things get complicated, the scientific view is: ‘No, but we can figure it out, we just have to additionally look at this or that as well’.” (P6, F65, HL−, r.138–140)
	Cheaper than going through public health care system	“Yeah, it could be cheap. I’m not sure, but that’s a feeling, that it’d be cheap.” (P3, F53, HL−, r.62)
	Group pressure	“…Uh, what else? Group pressure. Yeah, maybe if everyone does it, I can imagine if all my friends are doing such a test and coming back like: ‘Oh, I’m very sporty and oh, I can’t take this very well.’, that I also might want to know that about myself.” (P11, F22, HL+, r.269-27)
Against testing	Price can be a barrier	“… The price can also play a role I think, if it’s not reimbursed, that you have to pay for it yourself, that people start thinking: ‘Yeah, okay, never mind then.’.” (P5, F22, HL−, r.380)
	Doubts regarding reliability/objectivity of test results	“…So I, doubt the objectivity of the results a bit, because despite that I think there’s not a lot that can go wrong with these tests from the consumer’s side… you never know what happens en-route during transport of your sample to the lab. I also doubt the ethical values of the seller. Because if there’s nothing coming out of the test all the time… I can imagine they have to find something every once in a while to keep it interesting.” (P1, F38, HL+, r.38)
	Simply not wanting to know certain things like disease risk	“… I don’t really have a need to know things right now, because I’m not currently worrying about something. And then it’s like: ‘What you don’t know, can’t … [hurt you]’… Sometimes, ignorance is bliss.” (P3, F53, HL−, r.491)
	Old age and prior disease history	“Look, I’m already 68. I think, if I would be younger, I might want to know: ‘Alright, what am I carrying that I could do something about?’ But right now I’m thinking: ‘It will take my time’… I’m already a cancer patient, see, if I’d get a result like: ‘Yeah, there might be chance you get cancer’, well then, I’ve already been through that, bring it on.” (P4, M68, HL+, r.18–20)
	Test doesn’t give complete picture of your health status	“… It doesn’t provide a complete overview of your health, so to say, because it’s just DNA.” (P5, F22, HL−, r.378)
	Not every company analyzes the same variants/traits, test incomplete	“Well, not every test tests the same… It might not give a complete result, because it might not test for all the, uh, I forgot the word, but DNA… variants. It feels not useful then. If it isn’t complete, then I might be really curious, but then I’ve got the results and my curiosity still isn’t quenched, because there’s still things that aren’t included… That might even just further pique your curiosity.” (P5, F22, HL−, r.386–393)
	Expected lack of post-test care by seller	“Yeah, I’m afraid that those commercial companies don’t do a lot with that, with follow-up and that they, uh, just use a general disclaimer like: ‘In case you have complaints or questions, contact your GP.’, something like that…. Well, I think that’s a very easy escape, because they saddle people with unrest and then they’re like: “Go to your GP and figure it out”. (P8, M70, HL−, r.204–206)
	No involvement of doctor (geneticist) in DTC-GT testing process	“…Also because there’s no doctor involved or, uh, geneticist or something that concerns DNA, that type of stuff, I’m relatively skeptical about the degree to which regular people, or at least manufacturers of something like this, can say something useful, distill something useful out of it.“ (P11, F22, HL+, r.2–4)

Most participants initially indicated not wanting to undergo health-related DTC-GT. One important factor driving this decision-making was the lack of an apparent acute trigger or reason to test, with participants favoring not being exposed to potential unexpected results over quenching curiosity (Q56).

However, several participants implied that they would be willing to undergo DTC-GT. General curiosity appeared to be a main driver here. One participant even changed their attitude regarding testing during the interview due to curiosity (Q57). Finally, after seeing all mock materials, only few participants changed their initial opinions regarding whether or not they would be willing to undergo health-related DTC-GT themselves (Q58–59). The decision-making process for every participant appeared to be unique, both regarding proposed arguments and weight thereof in the decision-making process.

Modifying Effects of Price on Decision-Making

Several participants mentioned the importance of price in their decision-making process, with multiple participants stating that they would undergo DTC-GT if it was free of charge or under a certain price point, but not if they had to pay more than a certain price for it (Q60). Additionally, with regard to the mock seller’s Website, the displayed test price of EUR 250 had a dual effect on people’s intention to buy DTC-GT. Some found the test too cheap and deemed it too good to be true (Q61), thus decreasing trust in the seller’s offer. Others however found the test expensive, which decreased willingness to undergo DTC-GT on the one hand (Q62), but also caused one participant to suddenly want to test more traits than they previously intended to (Q63).

Desired Support

Need for Reliable, Independent Information Provision

Participants named various informational sources they would utilize to inform their decision-making if they were potentially interested in pursuing health-related DTC-GT. These sources included the seller’s Website, but also Google, HCPs (GPs and pharmacists), scientists, universities, informational Websites and comparators run by independent organizations (i.e., by Dutch consumer organizations, or a national public health institute), and reviews of prior consumers. Multiple participants mentioned that they valued independent information sources concerning DTC-GT to support their decision-making (Q64). Participants appeared to be aware of the positive bias that the reviews listed on a seller’s site can have and would often opt for independent review sites (Q65). Similarly, some participants displayed critical attitudes towards the information they expected to see on the mock seller’s Webpages (Q66). Participants stated that they would utilize information provided by HCPs and/or independent (consumer) organizations to verify whether the information provided by the seller is reliable (Q67).

Quality Marks

Independent quality marks guaranteeing the quality of a DTC-GT, its results, and data management practices of the company were also mentioned as potential tools for supporting decision-making. Most participants thought that these quality marks were not yet instated for DTC-GTs. However, the perceived usefulness of quality marks for supporting decision-making varied among participants (Q68–69).

Regulation and Legislation

To protect potential consumers from harmful consequences of DTC-GT, participants remarked legislation and regulation by policy makers as a viable option. Most participants thought there was presently no actively enforced regulation concerning DTC-GTs in the Netherlands. Views were however split on the feasibility and desirability of developing regulation and legislation in the context of DTC-GT (Q70–71).

Discussion

Our study aimed to contribute to broadening the insights into the diversity of perspectives, expectations, and factors relevant in decision-making regarding health-related DTC-GT in European populations, by means of qualitatively interviewing a cohort of sociodemographically diverse Dutch citizens. After broadly covering all descriptive themes and categories in the Results, here we will aggregate and summarize the results, interpret them in light of previously published studies, and highlight novel relevant insights.

Minimal General Awareness and Interest

Our findings illustrated that participants were mostly unaware of health-related DTC-GT prior to the interview invite. Two participants had previously considered undergoing health-related DTC-GT. The majority of participants indicated that they did not intend to (hypothetically) purchase health-related DTC-GT when prompted. These findings concerning awareness and prior consideration are all in line with previous quantitative Dutch studies [6, 11, 13].

Low general awareness and interest regarding health-related DTC-GT make it likely that people are initially exposed to health-related DTC-GT via easily accessible sources. Indeed, participants that were aware of the existence of health-related DTC-GT mainly became so via social media and newspaper articles, and previous studies indicated that news articles and social media items on platforms like YouTube and TikTok regarding DTC-GT garner hundreds of millions of views [33–35]. This makes these platforms important resources for spreading awareness and information about DTC-GT. However, information concerning DTC-GT shared in social media posts is often imbalanced, placing more emphasis on benefits of testing rather than its risks and limitations [33, 34]. As such, this forms a risk for uninformed decision-making if potential consumers do not gather information from other sources. Improving the balance of information provided via social media posts and newspaper articles, for example, through (social) media campaigns by authoritative figures in the field such as HCPs and scientists, could play an important role in reducing the risk of uninformed decision-making regarding health-related DTC-GT [33–35]. Indeed, previous studies have indicated that (social) media campaigns can influence health behavior and thus decision-making regarding health-related decisions [36–38].

Use of Biased Information Sources for Decision-Making and Role of Regulation and Quality Marks

Participants generally indicated that they expected themselves to be able to make an informed decision regarding whether to undergo DTC-GT based on information provided by the seller since they expected the seller to provide all required information for informed decision-making. Additionally, when contemplating about buying the test, participants thought they could approach the seller with pre-test questions. Alternative information sources participants said they would utilize were independent review Websites, informational Websites run by independent organizations, and information provided by HCPs.

Concerningly, studies have repeatedly shown that information provided by DTC-GT sellers is often incomplete, imbalanced, or too difficult to understand [19, 39–41]. Moreover, only approximately 25% of sellers offer pre-test consultation with a qualified specialist [41], and knowledge concerning DTC-GT among HCPs was found to vary significantly between different groups of HCPs [36].

To reduce the risk of uninformed decision-making, it is important that the general public is aware about biases in information provision from DTC-GT sellers and that they are stimulated to search for unbiased information sources. Again, (social) media campaigns by authoritative figures in the field could play a role here [33–35]. Education of HCPs regarding DTC-GT would enable them to stimulate informed decision-making by potential consumers through dissemination of accurate, balanced information [42]. Moreover, independent information provision tools could be developed for the general public, ideally via consultation and/or co-creation involving both DTC-GT consumers and citizens. This ensures the tools are in line with the public’s informational needs and preferences. Thus, the effectiveness of the tools, as well as the chance of successful implementation and dissemination thereof, is enhanced [43, 44]. To facilitate development and implementation of these tools, insight is needed in which informational sources are utilized by DTC-GT consumers to inform their decision-making process. These insights are currently lacking. Studying the decision-making by DTC-GT consumers should provide additional insights to aid in the development of information provision tools.

Additionally, outside of information provision, the development, implementation, and enforcement of regulation and legislation concerning DTC-GT as well as certified quality marks could help protect potential consumers against (harmful consequences of) uninformed decision-making through intervention by policy makers, governmental bodies, and consumer organizations. Although there is already some Dutch and European legislation relevant to DTC-GT [45, 46], recognized quality marks and enforceable legislation more directly targeting DTC-GTs, such as the European IVDR, are currently still under development or being implemented [47]. These factors will presumably mainly aid in safeguarding the test quality, and thus analytical validity, of DTC-GTs. The effect of legislation and quality marks on safeguarding the clinical validity and utility of DTC-GTs, as well as the overall enforceability of said legislation given the dynamicity and international character of the DTC-GT market [46], remains to be seen.

Potential Problems across Consumer Journey: (Un)Realistic Expectations?

Our participants’ overall expectations concerning health-related DTC-GTs appeared to be sizeable. Given the sociodemographic variety in our sample, it is plausible that these expectations may also be present among broader segments of the Dutch public; however, further research is needed to explore their prevalence at the population level. Several observed recurring misconceptions with regard to the clinical utility of DTC-GT, such as that DTC-GT results can readily be used to inform medical and/or reproductive decision-making, were also described in earlier studies among actual DTC-GT consumers [48, 49]. Combining our findings with the earlier-illustrated issues regarding information provision by sellers [19] underscores the risk for uninformed decision-making regarding DTC-GT by potential DTC-GT consumers. It should be noted that DTC-GTs with clearly demonstrated clinical validity, such as pharmacogenetic tests [50] and genetic carrier screening [51] offered by some Dutch hospitals, can be useful for medical and/or reproductive decision-making. Although commercial DTC-GTs can have some utility, the majority of these tests have not yet demonstrated irrefutably clear clinical utility, or even state themselves that their results should not readily be used for medical and/or reproductive decision-making [52].

Furthermore, when exposed to their mock test results, participants wondered how the results were substantiated and how they should interpret them. These findings conform with one of the few previous qualitative European studies [17]. With regard to risk perception and interpretation, most participants were unable to accurately infer their absolute personal disease risk for Alzheimer’s disease. Notwithstanding potential room for improvement of our hypothetical materials to conform to risk communication best practices, several studies have also shown that both members of the general public as well as DTC-GT consumers are prone to misinterpreting genetic risk results [14, 53–56]. Combined with our findings, there appears a need for improvement of risk communication from DTC-GT companies, as also recently suggested [57]. Known best practices regarding (genetic) risk communication, such as communication of absolute rather than relative risks and usage of visuals, should inspire these improvements [58–60].

Multiple participants expected DTC-GT sellers to offer some type of post-test support. Likewise, they intended to consult an HCP in case they deemed it necessary. However, lack of post-test counseling by DTC-GT sellers has been a focal point of scholars’ critiques of DTC-GT, with the majority of health-related DTC-GT sellers not offering post-test counseling [41]. As such, it is likely that consumers end up consulting HCPs to have their questions answered, utilizing public health care resources.

Concerning HCP consultation, a meta-analysis showed that approximately a third of DTC-GT consumers consult at least one HCP, with GPs being the most-consulted type of HCP [61]. Another systematic review noted that HCPs’ confidence in their ability to answer patients’ questions regarding DTC-GT, and confidence in their own correct interpretation of DTC-GT results differed markedly between included studies, even within the same HCP specialty [42]. This indicates HCPs might feel unprepared to properly answer patients’ questions regarding health-related DTC-GT.

Participants named many forms of potential positive and negative impact that undergoing health-related DTC-GT could have on individual, societal, and health care levels. Undergoing DTC-GT can indeed have profound medical and psychosocial impact on individuals and cause them to undertake adverse actions such as implementing unnecessary or wrong health behaviors based on their DTC-GT results [53, 62, 63], although few consumers appear to experience these impacts [61]. Furthermore, a non-negligible impact of DTC-GT consumers on public health care services has been reported [64]. Studies assessing the medical and psychosocial impacts experienced by Dutch health-related DTC-GT consumers are lacking, as well as studies assessing the burden these consumers place on the Dutch public health care system.

Overall, participants’ expectations regarding DTC-GT across the DTC-GT consumer journey [2] seem too high to be fulfilled based on contemporary scientific insights, indicating another risk for uninformed decision-making. Again, enhancement of information provision in a way that aligns with the public’s needs and preferences combined with an effective implementation and dissemination strategy could help to instill the public with more realistic expectations regarding health-related DTC-GT and thus stimulate informed decision-making.

Unique Decision-Making Processes: Impact on Stimulating Informed Decision-Making

Our results indicate that participants are unlikely to change their opinion about undergoing DTC-GT after being exposed to a large load of novel information in the form of a mock DTC-GT seller’s Website and mock DTC-GT results. Combining this observation with our insights regarding the uniqueness of each participant’s decision-making process suggests that the true potential impact of improved information provision on potential consumer’s decision-making, although appearing promising, could be dampened. Qualitative insights into DTC-GT consumers’ decision-making processes should shed light thereon. Concerning key arguments, we found that “general curiosity” and “not having an acute trigger or need for being tested” were the main reasons for participants arguing in favor or against hypothetically undergoing DTC-GT, respectively.

Indeed, “general curiosity” has earlier been identified as key driver for decision-making in the context of DTC-GT [3], but “not having an acute trigger or need for being tested” appears to be a novel driving argument: previous studies mainly identified concerns regarding result reliability, companies’ data management practices, and psychosocial worry as key reasons to not undergo DTC-GT [4]. Of course, the underlying reason for not pursuing testing in absence of an obvious trigger could be related to these reasons.

The observed modifying effect of price on decision-making is noteworthy. This finding is in line with previous studies showing that people have higher interest in DTC-GT if tests are free of charge, with interest declining upon increasing prices [65–67]. Thus, price fluctuations present a way through which potential consumers could be nudged into uninformed decision-making by sellers, for example, by offering temporary discounts and flash deals. To stimulate informed decision-making concerning DTC-GTs, implementation of a ban on temporary discounts and flash deals, or at least disseminating warnings therefor, could be considered.

Strengths and Limitations

As stated, original studies investigating non-consumer citizens’ perspectives on DTC-GT in European countries are scarce, with these few European studies also indicating differences between perspectives from different countries [3, 4]. Our study contributes to broadening the insights into the diversity of perspectives, expectations, and factors relevant in decision-making regarding health-related DTC-GT in European populations by qualitatively interviewing a group of sociodemographically diverse Dutch citizens, thus aiding in filling the aforementioned knowledge gap.

Our recruitment approach aimed to include participants from a wide range of sociodemographic backgrounds within the Netherlands, including individuals with low (health) literacy and numeracy: groups that are often described as “hard to reach” in research [68]. This allowed us to capture a wide range of perspectives regarding health-related DTC-GT from a sociodemographically diverse group of Dutch citizens.

Simultaneously, the recruitment strategy, which involved participants who had previously signed up for a research agency panel and volunteered for interviews on DTC-GT, introduces potential risk for inclusion biases. While efforts were made to include individuals from diverse sociodemographic backgrounds, the small sample size and qualitative nature of the study limit the ability to capture the full range of perspectives within the broader population. Thus, the findings cannot readily be generalized to the entire Dutch population.

Additionally, the informational video and hypothetical DTC-GT materials utilized in the interviews were self-made. These materials were developed to represent the reality (potential) DTC-GT consumers face as well as possible. Nonetheless, it is unlikely that the hypothetical DTC-GT materials fully captured the total heterogeneity and intricacies of the health-related DTC-GT market, both in terms of overall offer and differences in clinical utility between available tests. Moreover, the choices made in the development of the materials could have influenced participants’ responses in the interviews. For example, as becomes obvious from Q11 in Table 2, the fact that the seller was shown to also offer a “Perfect Partner” DTC-GT caused a decrease in trust of the offered health-related DTC-GT. Furthermore, as illustrated by Q33 and Q34, some participants would not have undertaken action based on their (hypothetical) increased risk for Alzheimer’s disease (the main focus of the mock results) but would undertake action based on the (hypothetical) increased risks for cardiovascular disease and/or breast cancer that were briefly shown alongside the risk for Alzheimer’s disease prior to focusing thereon for the remainder of the mock test result exposure. Therefore, the fact that the materials themselves possibly unwantedly informed and influenced participants’ views and expectations regarding DTC-GT is a limitation of the study that should be taken into account when interpreting the results.

Finally, due to the aforementioned aim of the study, we explicitly focused on broadly presenting identified descriptive themes and categories pertaining to perspectives, expectations, and factors relevant for decision-making in the context of health-related DTC-GT within our study population, rather than focusing on higher-order levels of analyses. Choosing a higher-order level of representation of our results would have hampered us in showcasing the breadth of perspectives that we have been able to present using our selected methodology, potentially leading to a loss of the diversity in presented perspectives and expectations. It must however be noted that this decision prevented us from delineating and showcasing links between themes in-depth, which can be seen as a limitation of the present approach.

Conclusions

The present study is the first qualitatively assessing the beliefs, expectations, attitudes, and factors relevant for decision-making in the context of health-related DTC-GT within a sociodemographically varied group of Dutch citizens, contributing to broadening insights into the diversity of perspectives, expectations, and factors relevant in decision-making regarding health-related DTC-GT in European populations. We found that participants were generally unaware of health-related DTC-GT prior to the interview invite. When talking about these tests and looking at hypothetical examples of the offer and results, participants expressed substantial expectations across the entire DTC-GT consumer journey and demonstrated several recurring misconceptions, for example, concerning the immediate usability of DTC-GT results for informing medical- and/or reproductive decision-making. The decision-making process concerning hypothetically undergoing DTC-GT appeared unique for each participant regarding proposed arguments and weight attached thereto. Most participants initially indicated they would not want to undergo DTC-GT and did not change their mind after exposure to hypothetical company materials. Price was identified as an important modifying factor in participants’ decision-making.

Responsible use of DTC-GT could potentially be stimulated through enabling citizens for informed decision-making, for example, through enhancement of information provision using co-created tools therefor. Tools to support the decision-making process could include (social) media campaigns, education of the general public and HCPs, development of certified quality marks, and implementation of enforceable regulation and legislation. To discuss the desirability, feasibility, and potential impact of each option, as well as discover other potential empowerment opportunities, involved stakeholders such as citizens, DTC-GT consumers, policy makers, regulators, HCPs, the DTC-GT industry, and other relevant parties should all engage in discussion. Subsequently, tools and roadmaps to encourage informed decision-making and ultimately stimulate responsible use of health-related DTC-GT can be developed and implemented.

Acknowledgments

The authors would like to thank the participants that made the effort to travel to and participate in an interview, concerning a subject they were oftentimes previously unaware even existed.

Statement of Ethics

The Medical Ethics Review Committee of Amsterdam University Medical Centers evaluated the study design and decided that the Medical Research Involving Medical Subjects Act (WMO) does not apply to this study and that further official approval was not required (2023.0133). Written informed consent was obtained from participants to participate in the study prior to the start of the interview.

Conflict of Interest Statement

The authors declare no conflicts of interest.

Funding Sources

This study was conducted as part of the ERUDIGIT project, funded by the Netherlands Organisation for Health Research and Development, Grant No. 05550402110010. The funder had no role in the design, data collection, data analysis, and reporting of this study.

Author Contributions

Conceptualization: all authors; methodology: D.B., S.M.O., O.C.D., and T.R.; validation and investigation: D.B. and S.M.O.; formal analysis, data curation, writing – original draft preparation, and visualization: D.B.; writing – review and editing: D.B., S.M.O., M.C.C., M.G.E.M.A., M.H.W.v.M., O.C.D., and T.R.; supervision: M.C.C., M.G.E.M.A., M.H.W.v.M., and T.R.; project administration and funding acquisition: T.R. All authors have read and agreed to the published version of the manuscript.

Funding Statement

This study was conducted as part of the ERUDIGIT project, funded by the Netherlands Organisation for Health Research and Development, Grant No. 05550402110010. The funder had no role in the design, data collection, data analysis, and reporting of this study.

Data Availability Statement

To protect the anonymity of participants, interview transcripts will not be shared. Information about the materials utilized in the interviews can be found in the online supplementary materials, such as the topic guide (online suppl. Materials I), informatory video (online suppl. Materials II with reference [69]), and hypothetical company materials (online suppl. Materials III with references [70, 71]). Requests for and questions about the data utilized for this manuscript can be addressed to the corresponding author.