Table 2.
Recent empirical and qualitative research informing multiplex DTC genomic testing for common disease
| Research focus | Author and year | Method/subject group | Aims and findings | Reference |
|---|---|---|---|---|
| Awareness, testing market and media | Kolor et al., 2009 | Results of two national surveys (HealthStyles and DocStyles) | Used 2008 DocStyles and HealthStyles national surveys to examine awareness of DTC genomic tests among health-care providers (n = 1880) and individuals/consumers (n = 5399). Found that 22% of individuals were aware of tests and 0.3% had used them; of those that had tested, two-thirds had shared results with a physician. Alternatively, 42% of health-care providers were aware of tests, and of those, 15% reported having at least one patient who sought to discuss the test results | (74) |
| Wright and Gregory-Jones, 2010 | Used Compete.com to assess internet traffic on DTC websites | Assessed internet traffic on websites of the three most prominent DTC genomic test companies as a proxy for commercial activity. Found 23andMe to lead with an average of 78% of the unique visitors per month in 2009. Overall, found the demand for DTC genomic tests for common disease susceptibility to be small and thus the likely impact on health systems to also be minimal | (77) | |
| Lynch et al., 2011 | Lexis-Nexis search for DTC genetic test news stories from 2006 to 2009 | Assessed themes presented by US news media regarding DTC genetic testing. Identified 92 news stories. Found that stories displayed moderate genetic determinism and were neutral about validity and utility. Identified physicians and DTC companies as groups most likely to violate privacy. Overall, found that a broad range of views were presented | (111) | |
| Uptake, interest, attitudes and perceptions | McBride et al., 2009 | Adults aged 25–40 years enrolled in the Multiplex Initiative | Goal was to determine what psychological and behavioral factors predict who is likely to seek SNP-based genetic tests for multiple common health conditions. Only a third of those offered free testing logged on to a study website to review the relevant information (n = 612), and less than half of this group elected to undergo testing (n = 266). Individuals who believed it important to learn about genetics, were confident they could understand genetics, and self-reported the greatest number of health habits to change were most likely to get tested | (57) |
| McGuire et al., 2009 | Online survey of social networking users | Survey of 1087 social networkers (i.e. likely ‘early adopters’) indicated that 64% would consider using DTC genomic testing, 30% would not and 6% had already been tested. Of those who would consider testing, 78% would ask their physician for assistance with interpretation, and 54% would consider using DTC testing for their child | (75) | |
| Bloss et al., 2010 | Adult DTC genomic test consumers aged 18–85 enrolled in the SGHI | Among a sample of 3640 DTC genomic test consumers, found that roughly half still reported concerns about undergoing testing. Specific concerns endorsed included concerns related to privacy of results and the quality and reliability of the data. Concerns were also found to vary as a function of demographic characteristics, including age, gender, occupation and education, as well as level of trait anxiety | (59) | |
| Keller et al., 2010 | Adults enrolled in the community cohort of the CPMC | The CPMC is composed of three cohorts: community, cancer and chronic disease. Between December 2007 and December 2009, the community cohort reached 4372 individuals enrolled. Of those enrolled, 2809 have completed a demographic questionnaire, which shows that the sample is predominately female (63%), well educated and Caucasian (92%); in addition, 26% are health-care professionals | (54) | |
| Gollust et al., 2011 | Adults registered to attend an enrollment event for the CPMC | Among 369 individuals registered for a CPMC event between March 2009 and April 2010, motivations and perceptions of genomic testing were assessed. These ‘likely early adopters’ indicated that they were motivated to participate for their own curiosity and to find out disease risks to improve health. In addition, fewer than 10% expressed deterministic perspectives about genetic risk, and 92% intended to share their results with physicians | (80) | |
| Hensley Alford et al., 2011 | Adults aged 25–40 years enrolled in the Multiplex Initiative | Aim was to evaluate, using a population-based sample of healthy adults, whether gender, race and education influenced interest in and the decision to undergo multiplex genetic susceptibility testing. Found that African Americans were less likely to participate in the multiplex genetic susceptibility test and those from higher education neighborhoods were more likely to participate | (62) | |
| Sweeny and Legg, 2011 | Adults aged 19 to 78 years recruited via web advertisements | Participants (n = 99) read positive, negative, or positive and negative information about DTC genomic testing. Found that the information types people received predicted their intentions about whether or not to undergo testing. Authors suggest this could have implications for designing interventions to encourage or discourage the use of DTC genomic tests | (112) | |
| Ormond et al., 2011 | First-year medical and graduate students | Students were surveyed before and after (n = 31) a graduate level genetics course to determine attitudes toward personal genomic testing for both physicians and consumers. After the course, students were less likely to believe in the usefulness of genotyping information; a slight majority of the students were and remained interested in undergoing genotyping themselves, but cited curiosity as the primary reason; 50% of students expressed concern about the confidentiality of the results | (51) | |
| Su et al., 2011 | Content analysis of DTC test users’ posts on internet blogs and websites | Through analysis of internet blog and DTC genomic test website posts, the personal stories of roughly 47 individuals who had undergone DTC genome testing were assessed. Results indicated five major sets of motivations and expectations towards DTC genomic testing, including (i) health, (ii) curiosity and fascination, (iii) genealogy, (iv) contributing to research and (v) recreation | (81) | |
| Wilde et al., 2011 | Population-based survey of community-dwelling adults | Survey of 1046 individuals found strong interest in predictive testing for susceptibility to depression. After considering the benefits and disadvantages of testing, there was greater interest in seeking testing through a physician (63%) versus DTC (40%) | (82) | |
| Communication of genomic information | Lachance et al., 2010 | Content analysis of health-related DTC genetic testing websites | Analysis of 29 websites found average reading level was grade 15. Most sites presented health conditions, some markers for which they tested, the benefits of testing and the relevant privacy policy; fewer cited the scientific literature, explained test limitations or explained technical terms consistently. Concluded that many users would struggle to find and understand important information given wide variation in informational content, literacy demands and usability | (84) |
| Kaphingst et al., 2010 | Adults aged 25–40 years enrolled in the Multiplex Initiative | Aim was to inform concerns regarding whether individuals offered genomic testing DTC can make informed decisions about testing when guided by online decision aids. Participants (n = 526) who visited the Multiplex Initiative study website viewed 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’ | (83) | |
| Leighton et al., 2011 | Social networkers and genetic counselors | Online survey that included four sample DTC genetic test result profiles was posted on Facebook. Social networkers (n = 145) and genetic counselors (n = 171) completed the survey. Results showed that the social networkers believed the results in all four scenarios to be more helpful relative to the genetic counselors. The social networkers rated the results as easy to understand, but occasionally misinterpreted them | (113) | |
| Consumer impact of genomic testing | O'Daniel et al., 2010 | Individuals with advanced training in genetics (The Duke Personal Variome Project) | A total of 14 participants received individual reports of estimated genomic ancestry, genotype data and reported disease associations at no cost. Emotional, cognitive and health behavioral impact was assessed through one-on-one interviews administered pre- and post-testing. Results suggested high interest before and immediately following testing, but a decline in interest with time. Participants deferred to family history-based risks when genomic risks were inconsistent with this, and there was relatively low uptake of health behavior change | (72) |
| Bloss et al., 2011 | Adult DTC genomic test consumers aged 19–85 enrolled in the SGHI | Evaluated the impact of testing with the Navigenics HealthCompass among a cohort of 2037 consumers who completed follow-up assessment. Analyses showed no significant impact on anxiety symptoms, dietary fat intake or exercise behavior. Test-related distress was positively correlated with the average estimated lifetime risk among all the assessed conditions, but over 90% of participants indicated no test-related distress. There was also no significant increase in the actual use of health screening tests; however, participants reported the intention to increase the frequency of screening in the future | (60) | |
| Austin and Hegele, 2011 | Case study | Patient (52-year-old male) underwent DTC genomic testing with 23andMe. In terms of risk for cardiovascular disease, genotyping suggested decreased risk, versus family history, which suggested increased risk. Underscores the importance of an understanding of DTC genomic test limitations among both consumers and physicians | (71) | |
| Roberts et al., 2011 | Case study | Patient from large family affected with Lynch syndrome in which there is a known mutation in MSH2. Patient was aware that clinical genetic testing for the familial mutation was available, but was concerned that if the result was positive, he/she would lose or be unable to afford health insurance. Instead underwent testing with 23andMe, and was able to determine, with the help of a medical geneticist, that he/she was in fact a carrier | (23) | |
| Health-care impact of genomic testing | Hock et al., 2011 | Members of the National Society of Genetic Counselors | Members (n = 312) completed a web-based survey in 2008. A total of 83% had two or fewer inquiries about DTC genetic testing, and 14% had received requests for test interpretation or discussion. Fifty-one percent thought testing should be limited to a clinical setting, and more than 70% would consider testing for patients who have concerns about genetic discrimination | (78) |
| Giovanni et al., 2010 | Members of three different groups of genetics professionals | Surveyed 133 members across three professional groups, including the National Society of Genetic Counselors, the list serve of the Adult Genetics Special Interest Group and the American College of Medical Genetics. Respondents described 22 cases of clinical interactions following DTC genetic testing. Most (59.1%) were self-referred, but 31.8% were physician-referred; about half who saw patients after testing judged the testing to be clinically useful | (79) | |
| Pediatric DTC genomic testing | Tercyak et al., 2011 | Parents enrolled in the Multiplex Initiative | Parents (n = 219) who were offered multiplex testing for eight common health conditions themselves were surveyed regarding their attitudes and beliefs about having their child tested. Respondents viewed the benefits of pediatric testing to outweigh the risks and were moderately interested in testing | (103) |
| Howard et al., 2011 | DTC genetic testing companies | Surveyed 37 DTC genetic testing companies between December 2009 and April 2010 regarding their policies for testing children. Of the 13 companies that responded, found that a majority do perform testing in minors. Authors emphasize that companies testing children for adult-onset diseases for which there are no established therapeutic or preventative strategies are acting in contradiction of established professional guidelines | (101) |
CPMC, Coriell Personalized Medicine Collaborative; SGHI, Scripps Genomic Health Initiative.