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Few data exist to inform concerns raised by online direct-to-consumer marketing of genetic susceptibility tests, such as those offered by commercial entities like 23andme, Navigenics, and DNA Direct. The Multiplex Initiative, a population-based study of healthy adults, provides the first opportunity to evaluate how use of a Web-based decision tool that conveyed information about a genetic susceptibility test influenced individuals’ test decisions.
To inform the ongoing debate over whether individuals offered genetic susceptibility testing without the involvement of a health care provider (eg, through direct-to-consumer testing) can make informed decisions about testing when guided by online decision aids.
Participants were 526 members of a large health maintenance organization aged 25 to 40 years old who visited a study website. Multivariate logistic regression models were tested to examine the association of website usage with downstream test decisions.
Participants viewed an average of 2.9 of the 4 pages introducing the multiplex test, 2.2 of the 8 pages describing the health conditions, and 3.2 of the 15 pages describing the genes. For each page viewed, participants were more likely to describe their decision-making as easy (odds ratio [OR] 1.04, 95% confidence interval [CI] 1.01-1.07) and to decide to be tested (OR 1.08, 95% CI 1.05-1.11).
Healthy adults in this study perceived Web-based genomic information presented using evidence-based communications approaches to be helpful in supporting both decisions to test and not to test. Continued research is needed to ensure that these results generalize to target groups with lower literacy and less Internet savvy.
Several new genetic tests provide individuals with information about their susceptibilities to a wide array of common health conditions. The availability of these tests is expected to increase greatly over the next decade as more gene-disease associations are identified [
One of the most hotly contested issues has been focused on the challenges of communicating complex information about genetic risk for common, chronic diseases [
Direct-to-consumer companies’ reliance on interactive Web-based approaches adds complexity to these communication issues [
Most prior research regarding comprehension and uptake of genetic testing has occurred in the context of high-risk familial cancer syndromes. The majority of those who present for such testing have already decided to be tested [
The Multiplex Initiative was designed to develop the infrastructure needed to evaluate a multiplex test (ie, a test that includes multiple genetic variants for multiple health conditions) taken by healthy adults insured through a large managed care organization. The study provided the first opportunity to systematically present genetic susceptibility information based upon best communication practices and then to examine individuals’ responses to the information. Despite the fact that testing was offered at no cost and the target population was insured, we reported previously that those who logged on to a study website to consider testing and subsequently elected to be tested were significantly more likely to be college educated and white than those who did not log on or were not interested in testing [
In this report, we pose three specific research questions: (1) How do participants in the Multiplex Initiative engage with different content areas of information provided on the website? (2) How do participants rate the quality and usefulness of the website information? (3) Is website use associated with decisions about genetic testing?
The Multiplex Initiative has previously been described in detail [
A baseline telephone assessment was attempted with 6348 sampled individuals. Of these, 1930 completed the assessment and were invited to visit the study website. Individuals completed a consent process as part of the initial Web module. Participants were told that they would be asked to complete brief questionnaires and to review Web content. A total of 612 individuals visited the website, and 527 completed all four website-based assessments. Although website visitors who did not complete all four assessments were similar to those who completed all assessments based on age, gender, educational attainment, and marital status, white participants were more likely to complete all assessments than black participants (
The content of the Multiplex Initiative study website was developed by an interdisciplinary team of researchers, drawing on prior research and best practices in health literacy and risk communication. Health literacy principles were used to develop the information content of the website. For example, the scope of the content was limited to what the team considered the most essential information needed to support participant decision-making [
The website content was organized into four modules: (1) Multiplex Genetic Testing: What it Can and Cannot Tell You; (2) Diseases and Genes on the Multiplex Genetic Test; (3) Your Rights if You Take Part in Multiplex Genetic Research; and (4) Your Decision to be Tested or Not (see
Definition of multiplex genetic testing
Testing procedures
Overview of health conditions and genes
Meaning of “genetic risk”
Importance of health habits and other factors in disease risk
For the eight health conditions:
Description of condition
Known risk factors for condition
Genes that affect risk of condition
For the 15 genes:
Brief description of gene action
Increased risk associated with gene variant
Prevalence of risk-increasing gene variant in population
Limitations of what is known about gene-disease association
Scientific references
· Perceptions of website information in Module 2
Researcher responsibilities
Rights of research participants
Test procedures
Ease or difficulty of decision making
Interest in making clinic appointment
Example website page providing information about Multiplex Genetic Testing
Example website page providing information about a gene on the test
Each study participant was given a unique log-in ID/password pair that enabled their visit to the Multiplex website to be tracked. Each time a page on the website was accessed, a tracking database stored the participant’s unique log-in ID, the session number for that user (ie, whether this was their first, second, or subsequent visit to the Multiplex website), and the date and time that the page was requested. Log-in IDs were randomly generated and created so that the responses of a particular individual could not be identified.
The measures included in the report were collected at three time points: baseline telephone assessment, website assessments (about 1 to 2 weeks after baseline), and whether individuals attended the clinic visit for a blood draw (up to 60 days after baseline).
The primary outcome variable, ease of decision making, was assessed in the fourth website module (see
The primary predictor variable was the number of website pages viewed for each module. Each page was assigned a value of 0 or 1 depending on whether or not participants viewed that page. The number of pages viewed was then summed overall and within content areas.
Individuals’ perceptions of the content of the second module (see
Covariates assessed were based on the Risk Information Seeking and Processing Model [
Data were analyzed using SAS Version 9.2 for Windows (SAS Institute Inc, Cary, NC, USA). Descriptive statistics were first examined for all variables. Differences by the predictor variable, possible mediating variable, and covariates in the two outcome variables were assessed using chi-square tests. We then tested multivariate logistic regression models to evaluate the association of number of pages viewed with the two outcome variables, employing forward checking and backward elimination methods to determine which covariates to include in the final models [
Of the 27 possible pages in modules 1 and 2 (
In bivariate analyses, the number of pages viewed was associated with each of the two outcomes (see
Association of website content viewed and ratings of content with decision outcomes (n = 526)
Ease of Decision | Test Decision | ||||
Easy Decision |
Difficult Decision |
Received Test |
Did Not Receive Test |
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General test information (4 pages) | 3.0 (1.3) | 2.6 (1.4) b | 3.2 (1.2) | 2.5 (1.4) c | |
Health conditions information (8 pages) | 2.4 (2.8) | 1.8 (2.5) a | 2.7 (3.0) | 1.6 (2.3) c | |
Genes information (15 pages) | 3.6 (4.5) | 2.5 (4.0) b | 4.4 (5.0) | 2.0 (3.1) c | |
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Overall perceptions of content | 5.5 (1.0) | 4.9 (1.0) c | 5.5 (1.0) | 5.2 (1.0) a | |
Trusted information | 6.2 (1.1) | 5.5 (1.5) c | 6.0 (1.2) | 5.8 (1.4) a | |
Satisfied with information | 5.9 (1.2) | 5.1 (1.5) c | 5.9 (1.2) | 5.4 (1.4) c | |
Easy to understand | 5.7 (1.4) | 5.0 (1.6) c | 5.6 (1.5) | 5.3 (1.6) b | |
Able to understand | 5.6 (1.7) | 5.0 (1.8) c | 5.5 (1.8) | 5.2 (1.8) | |
Helped decision | 5.4 (1.7) | 4.7 (1.5) c | 5.4 (1.6) | 4.9 (1.6) b | |
Minimal effort to understand | 5.3 (1.8) | 4.6 (1.9) c | 5.2 (1.8) | 4.9 (1.9) | |
Sufficient information | 4.8 (1.9) | 4.4 (1.9) a | 4.7 (1.9) | 4.6 (2.0) |
a
b
c
Participants rated the quality and usefulness of the information about the health conditions and genes positively. These ratings were significantly associated with each of the two outcomes (see
As shown in
Prediction of ease of decision making by number of pages viewed in a multivariate logistic regression model (n = 523)
Odds Ratio | 95% Confidence Interval | ||
Number of pages viewed | 1.04 | (1.01-1.07) | |
Male gender | 0.87 | (0.58-1.29) | |
Age | 0.99 | (0.94-1.04) | |
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High school or less | 0.81 | (0.47-1.39) | |
Some college | 0.74 | (0.49-1.13) | |
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White | 1.00 | (0.49-2.05) | |
Black | 0.58 | (0.29-1.19) | |
Married/partnered | 0.96 | (0.64-1.45) | |
Number of conditions with family history | 0.94 | (0.82-1.07) | |
Genetic self-efficacy | 1.27 | (1.05-1.52) | |
Involvement with genetic information | 1.18 | (1.03-1.36) |
a Comparison category is college degree or higher.
b Comparison category is “other.”
As shown in
Prediction of decision to test by number of pages viewed in a multivariate logistic regression model (n = 523)
Odds Ratio | 95% Confidence Interval | ||
Number of pages viewed | 1.08 | (1.05-1.11) | |
Male gender | 1.26 | (0.85-1.89) | |
Age | 1.03 | (0.99-1.08) | |
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High school or less | 0.51 | (0.29-0.88) | |
Some college | 1.04 | (0.69-1.59) | |
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White | 1.65 | (0.84-3.26) | |
Black | 0.66 | (0.33-1.30) | |
Married/partnered | 0.91 | (0.60-1.38) | |
Number of conditions with family history | 1.10 | (0.97-1.26) | |
Genetic self efficacy | 1.24 | (1.03-1.50) | |
Involvement with genetic information | 1.24 | (1.07-1.44) |
a Comparison category is college degree or higher.
b Comparison category is “other.”
We tested whether perceptions of the quality and usefulness of the information about the health conditions and genes mediated the significant associations of number of pages viewed with decision outcomes. In the first step, we found a low correlation between the number of Web pages viewed and perceptions of the information (
This report describes unique data suggesting how individuals respond to Web-based offers of genetic susceptibility tests. This is especially notable because multiplex genetic susceptibility tests currently being offered by many DTC companies have unknown clinical utility. We examined test decisions in a population-based sample where nearly half of participants who visited the website to consider testing ultimately decided not to be tested. This is in contrast to most of the prior genetic testing literature, in which the majority of study participants already had decided to obtain a genetic test [
Individuals generally had positive perceptions of the quality and usefulness of the website information. Viewing more of the information was associated with finding it easier to decide about testing regardless of whether the individual decided to test or not. Thus, patients found the website helpful in supporting their decision-making—both the decision to test and the decision not to test.
In addition, the results presented here shed light on aspects of the online information that might be most useful in supporting individuals’ decision-making. Participants engaged most with the introductory section that described the test, testing procedures, and what could and could not be learned from the results. This suggests that this information may have been most relevant for their test decisions. In contrast, individuals generally did not delve very deeply into content related to health conditions and gene pages. However, it is noteworthy that participants who described their decision to test as easiest had viewed more of the pages describing the health conditions and genes than those who found it harder to decide. This suggests that more extensive processing about the specifics of the genetic test might have made it easier to decide about testing.
The findings observed here underscore the importance of attending to best communication practices such as layering information in website development. For example, we placed the most important information about the test in the introductory module and then supplemented that with detailed information about each health condition and gene on separate pages. We believe that our observation that participants generally viewed little of the detailed information supports using health literacy best practices. Specifically, the results suggest that information thought to be most essential to individual decision-making be presented first [
Despite our attention to health literacy issues (such as reducing technical jargon) in the design of this website, the results showed that educational attainment was the primary predictor of how much information participants viewed. Prior Multiplex Initiative analyses also have shown that educational attainment was associated with whether participants logged onto the website [
Although this population-based study had many strengths, the limitations should also be considered. The observational design did not allow us to examine the effects of individual Web design features or to investigate the effects of the educational material separately from the cognitive characteristics of the participants. For example, some of the observed results may be affected by educational differences in preferences for (or competencies in) reading lengthier text. These are important issues that could be considered in experimental lab-based studies, perhaps with analyses stratified by educational attainment or cognitive characteristics such as information seeking preferences. Similarly, we were not able to drill down to specific information content and decisions about testing. In addition, although we initially drew a population-based sample, participants who logged on to consider genetic testing were more educated and savvier Internet users. Thus, these results may not generalize beyond these early adopters.
The results of this analysis show that consumers perceived a carefully designed website consistent with best practices in communication to be helpful in deciding about genetic susceptibility testing. Critical next steps in this area will be to examine individuals’ understanding and interpretation of such website information and how it affects responses to test feedback. For example, is better understanding of the limitations of genetic susceptibility testing associated with more accurate interpretations of test feedback?
As genomic discovery advances, Web-based delivery likely will continue and expand as an avenue for education and decision support regarding genetic testing. These results suggest that individuals perceive Web-based tools designed based on evidence-based communication approaches as supporting decision-making about genetic testing in some target groups. However, continued research is needed to ensure that these tools or other appropriate decision support approaches are available to all groups including those having lower literacy.
This research was supported by the Intramural Research Program of the National Human Genome Research Institute (NHGRI), National Institutes of Health. In addition, this research was made possible through collaboration with the Cancer Research Network, funded by the National Cancer Institute (U19 CA 079689). Additional resources were provided by Group Health Research Institute and Henry Ford Hospital. Genotyping services were provided by the Center for Inherited Disease Research (CIDR). CIDR is fully funded through a federal contract from the National Institutes of Health to The Johns Hopkins University (HHSN268200782096C). We also thank the members of the Multiplex Steering Committee (Drs Robert Reid, Eric Larson, and Sharon Kardia) who provided their critical review of this paper. David Kanney, Mark Fredriksen, David Farrell, and Gretchen Gibney were invaluable members of the website development team. We also thank Andrea Kalfoglou for her assistance. Our thanks also go to the study participants who were all members of the Henry Ford Health System.
None declared
Center for Inherited Disease Research
direct-to-consumer
National Human Genome Research Institute