Table 1.

Empirical articles in sample (N = 39)

Author	Journal	Method/samplea	Findingsa
Content analyses of websites
Arribas-Ayllon et al. [12]	Commun Med	We examine the web sites of three personal genomics companies—Navigenics, deCODEme and 23andMe— each of which represents contrasting registers of ’personalisation’	We identify three distinctive registers in these websites: a paternalistic (medical) register; a translational (scientific) register and a democratic (consumerist) register. We explore in detail the rhetorical and discourse devices employed in these websites to assess how personalised health care is promised to the public. Promising information that will empower prevention of common complex diseases and ensure better quality of life is conflated with promising greater access to personal information. The presence and absence of scientific legitimacy is related to concerns about accuracy and validity on the one side, and fears of paternalism and elitism on the other. Nevertheless, a common strategy uniting these different styles of personalisation is consumer empowerment
Harris et al. [13]	J Genet Couns	We offer a discourse analysis of ways in which genetic counseling is represented on DTC GT websites, blogs and other online material	This analysis identified four types of genetic counseling represented on the websites: the integrated counseling product; discretionary counseling; independent counseling; and product advice. Genetic counselors are represented as having the following roles: genetics educator; mediator; lifestyle advisor; risk interpreter; and entrepreneur. We conclude that genetic counseling as represented on DTC GT websites demonstrates shifting professional roles and forms of expertise in genetic counseling. Genetic counselors are also playing an important part in how the genetic testing market is taking shape
Lynch et al. [57]	J Genet Couns	The purpose of this study was to determine and assess the themes presented by U.S. news media regarding DTC genetic testing. We performed a Lexis-Nexis search with the keywords “Direct-to-Consumer” and “genetic test” for news stories published from 2006–2009. Ninety-two news stories were included	Stories displayed moderate genetic determinism and were neutral about validity and utility. Stories indicated that insurance and employers were the most likely sources of discrimination, yet identified the physicians and DTC companies as groups most likely to violate privacy. Stories claimed lack of regulation would harm consumers, but most post-GINA stories did not discuss the law. The costs of tests were frequently included
Singleton et al. [11]	J Genet Couns	To understand the information that potential consumers of DTCGT services are exposed to on company websites, we conducted a content analysis of 23 health-related DTCGT websites	Results revealed that benefit statements outweighed risk and limitation statements 6−1. The most frequently described benefits were: (1) disease prevention, (2) consumer education, (3) personalized medical recommendations, and (4) the ability to make health decisions. Thirty-five percent of websites also presented at least one risk of testing. Seventy-eight percent of websites mentioned at least one limitation of testing. Based on this information, potential consumers might get an inaccurate picture of genetic testing which could impact their ability to make an informed decision
Wagner et al. [58]	Genet Med	To promote a data-driven discussion of the DNA ancestry testing industry, we conducted a systematic investigation to identify companies selling DNA ancestry tests and conducted an empirical study of the industry’s practices using data collected from each company’s website	We present a wealth of data, including an updated directory of companies, marketing slogans, product types and names, range of prices, diversity of reporting and representing results, noted benefits and limitations of testing, and a host of website practices
User attitudes, motivations, intentions
Finney Rutton et al. [14]	J Cancer Epidemiol	We analyzed nationally representative, cross-sectional data from the Health Information National Trends Survey in 2008 (n = 7, 674) and 2011 (n = 3, 959) to assess population-level changes in awareness of DTC genetic testing in the U.S. and to explore sociodemographic, health care, Internet use, and population density correlates	Overall, awareness increased significantly from 29% in 2008 to 37% in 2011. The observed increase in awareness from 2008 to 2011 remained significant (OR = 1.39) even when adjusted for sociodemographic variables, health care access, Internet use, and population density. Independent of survey year, the odds of awareness of DTC genetic tests were significantly higher for those aged 50–64 (OR = 1.64), and 65–74 (OR = 1.60); college graduates (OR = 2.02); those with a regular source of health care (OR = 1.27); those with a prior cancer diagnosis (OR = 1.24); those who use the Internet (OR = 1.27); and those living in urban areas (OR = 1.25). Surveillance of awareness—along with empirical data on use of and response to genetic risk information—can inform public health and policy efforts to maximize benefits and minimize risks of DTC genetic testing
Gollust et al. [19]	Public Health Genomics	Early adopters of personal genomics were surveyed to assess their motivations, perceptions and intentions. Participants completed an Internet-based survey about their motivations, awareness of personalized medicine, perceptions of study risks and benefits, and intentions to share results with health care providers	Respondents were motivated to participate for their own curiosity and to find out their disease risk to improve their health. Fewer than 10% expressed deterministic perspectives about genetic risk, but 32% had misperceptions about the research study or personal genomic testing. Most respondents perceived the study to have health-related benefits. Nearly all (92%) intended to share their results with physicians, primarily to request specific medical recommendations
Gordon et al. [24]	J Genet Couns	We conducted semistructured interviews with 60 adults participating in the Coriell Personalized Medicine Collaborative. The interviews took place after receiving results providing genomic and other risk information for up to eight common complex diseases	We found that participants were most likely to recall results which conferred an increased risk or those of particular personal interest. Participants understood the multi-factorial nature of common complex disease, and generally did not have negative emotional responses or overly deterministic perceptions of their results. Although most participants expressed a desire to use results to improve their health, a minority had actually taken action (behavior change or shared results with their doctor) at the time of the interview
Gray et al. [21]	Clin Genet	We conducted a randomized experiment; women viewed a ’mock’ BRCA testing website without [control group (CG)] or with information on the potential risks of DTC testing [RG; framed two ways: unattributed risk (UR) information and risk information presented by experts (ER)]. Seven hundred and sixty-seven women participated	Women in the RG had less positive beliefs about DTC testing (mean RG = 23.8, CG = 25.2; ρ = 0.001), lower intentions to get tested (RG = 2.8, CG = 3.1; ρ = 0.03), were more likely to prefer clinic-based testing (RG = 5.1, CG = 4.8; ρ = 0.03) and to report that they had seen enough risk information (RG = 5.3, CG = 4.7; ρ < 0.001). UR and ER exposure produced similar effects. Effects did not differ for women with or without a personal/family history of breast/ovarian cancer. Exposing women to the potential risks of DTC BRCA testing altered their beliefs, preferences, and intentions
Hall et al. [15]	Genet Test Mol Biomarkers	To determine if awareness of, interest in, and use of direct-to-consumer (DTC) genetic testing is greater in a sample of high-risk individuals (cancer cases and their relatives), compared to controls. A survey was mailed to participants to assess DTC genetic testing awareness, interest and use. Sample of 1,267 participants	Forty-nine percent of respondents were aware of DTC genetic testing. Of those aware, 19% indicated interest in obtaining and <1% reported having used DTC genetic testing. Additional information supplied by respondents who reported use of DTC genetic tests indicated that 55% of these respondents likely engaged in clinical genetic testing, rather than DTC genetic testing. Awareness of DTC genetic testing was greater in our sample of high-risk individuals than in controls and population-based studies
Kolor et al. [16]	Genet Med	We assessed awareness and use of direct-to-consumer personal genomic tests in Connecticut, Michigan, Oregon, and Utah using the 2009 Behavioral Risk Factor Surveillance System and compared the state results to the 2008 national HealthStyles survey results	Awareness was the highest in Oregon (29.1%) and the lowest in Michigan (15.8%). Factors associated with awareness across all states and nationally were higher education, higher income, and increasing age, except among those 75 years or older. Less than 1% of respondents had used the tests, with about one-half to three-quarters of those sharing the results with a health-care provider
Langford et al. [18]	J Genet Couns	To examine the association of 1) race/ethnicity and 2) numeracy with awareness of DTC genetic tests. Secondary analysis of 6,754 Hispanic, black, and white adult respondents to the National Cancer Institute’s 2007 Health Information National Trends Survey (HINTS)	After controlling for sociodemographic variables, black respondents were significantly less likely to have heard of DTC genetic tests compared to white respondents (OR00.79; CI: 0.65–0.97). When numeracy variables were added to the model, the effect of black race was no longer significant (OR00.84; CI: 0.69–1.04). Hispanic respondents did not significantly differ from white respondents in awareness of DTC genetic tests. Other significant correlates of DTC genetic tests awareness in the full model included education, income, age, and numeracy variables including degree to which people use medical statistics and numbers to make health decisions, and preference for words or numbers when discussing “the chance of something happening”
Leighton et al. [26]	Public Health Genomics	An online survey was posted on Facebook that included questions relating to 4 sample test results for risk of developing colorectal cancer, heart disease and skin cancer. Genetic counselors were used as a comparison group. 145 individuals from the general public and 171 genetic counselors completed the survey	A significant difference was found between the way the general public and genetic counselors interpreted the meaning of the DTC results. The general public respondents also believed that results in all four scenarios would be significantly more helpful than the genetic counselors did. Although the majority of general public respondents rated the results as easy to understand, they often misinterpreted them
Ormond et al. [59]	Genet Med	Purpose: To assess knowledge, attitudes and beliefs of students toward personal genomics as it related to themselves as both customers and future physicians. We surveyed first-year medical students and graduate students before and after a core genetics course	After the course, students were less likely to believe that genotyping information would be useful to physicians, patients, or consumers; genotyping would provide information to improve their own personal health; or personal genomic testing services are diagnostic of medical conditions. They were more likely to answer knowledge questions accurately after the course but still had difficulty with clinical interpretation. Despite these changes, a slight majority of students were, and remained, interested in undergoing genotyping themselves. Of note, the number who believed genotyping “would help them understand genetic concepts better than someone else’s data” decreased. General curiosity was the most commonly chosen reason for interest in undergoing genotyping, and approximately 50% of respondents expressed concern about confidentiality of results
Ortiz et al. [17]	Prev Chronic Dis	We analyzed data from adults aged 18 years or older who completed information on genetic test awareness (n = 611; 96% of study population) from the Health Information National Trends Survey conducted in Puerto Rico in 2009	The majority of respondents (56%) were aware of direct-to-consumer genetic tests, and approximately 4% had ever undergone any genetic test. Respondents who had never been married were less likely to be aware of DTC tests, as were current smokers. Respondents who ever sought cancer information were more likely to be aware of these tests
Perez et al. [60]	J Health Commun	This study examined attitudes toward direct-to-consumer advertising (DTCA) and online testing for BRCA among 84 women at a high-risk clinic as well as additional factors that may be associated with these attitudes, such as personal and familial cancer history, cancer worry and risk perception, and history with genetic testing = counseling	Results showed that the majority of the women held favorable attitudes toward DTCA for BRCA testing but did not support online testing. Factors such as familial ovarian cancer, cancer worry, and satisfaction with genetic counseling = testing were associated with positive attitudes toward DTCA, whereas personal breast cancer history was related to negative attitudes
Rahm et al. [61]	J Genet Couns	Purpose: To determine possible attitudes toward and understanding of direct-to-consumer (DTC) genetic testing among members of a large managed care organization, and whether differences might exist between population groups. Ten focus groups were conducted by population type (high risk, White, African American, Hispanic/Latino) to determine knowledge, attitudes and beliefs about DTC genetics	Participants framed the issue mainly in terms of disease prevention and uncertainty of reaction to results, with some variation between population types. The concept of an “Informed Consumer,” or process to seek information when the issue becomes personally relevant, emerged. This concept suggests that individuals may seek additional assistance to make personally-appropriate choices when faced with a DTC advertisement or genetic test
Roberts et al. [62]	J Genet Couns	We are reporting what we believe to be the first published case of patient initiated direct to consumer (DTC) genetic testing to test for the presence of a known familial mutation	This case shows that patients are still fearful of genetic discrimination, despite the passage of the Genetic Information Nondiscrimination Act (GINA), and that DTC genetic testing may be useful despite the overall negative feeling towards this type of testing in the genetic counseling community
Su et al. [20]	J Community Genet	We conducted an exploratory study based on users’ personal stories. Qualitative content analysis of users’ personal stories found on Internet blogs and DTC genetic testing companies’ websites	We identified five major sets of motivations and expectations towards DTC genome-wide testing. These themes are related to (1) health, (2) curiosity and fascination, (3) genealogy, (4) contributing to research, and (5) recreation
Sweeny and Legg [22]	Psychol Health	This study is one of the first to examine predictors of interest in DTC genetic testing. Participants read one of the three types of information about DTC genetic testing (positive only, negative only or both) and reported perceptions of and intentions to pursue testing	People who read both positive and negative information did not differ from people who read only negative information in their intentions to pursue testing. Our findings provide further confirmation of the role of perceived benefits, perceived barriers and anticipated regret in health decision-making
Vayena et al. [63]	Public Health Genomics	This study explores attitudes, motivations and self-reported impact in connection with direct-to-consumer (DTC) genomic testing amongst a group of life scientists in Switzerland. Data were collected through: (1) a self-completion online questionnaire, and (2) semi-structured qualitative interviews. Forty participants completed the questionnaire and ten were interviewed	Curiosity was mentioned as the primary reason for undergoing testing, while less significance was attributed to receiving actionable health information. The opportunity to contribute to research ranked high as a motive for testing. Overall, participants assessed their experience with the test as positive and were willing to recommend it to others. Some reported that the testing had an impact on how they view their health, but only a third of participants planned on showing the results to health practitioners. Participants consistently referred to ’fun’ when describing several aspects of the testing experience. The ’fun factor’ manifested itself in different phases of the process, including the motivation for taking the test, receiving the information and putting the test results to use (including sharing and discussing it with others). This finding suggests the need to further explore the concept of personal utility in DTC genomics
Psychological/health behavior impact
Bansback et al. [28]	Genet Test Mol Biomarkers	A web-based survey presented 12 hypothetical genetic risk profiles for four diseases; 319 participants (69%) completed 3,828 unique genetic risk profiles	Across all profiles, most participants anticipated making doctor’s appointments (63%), lifestyle changes (57%), and accessing screening (57%); 40% anticipated feeling more worried and anxious. Preliminary results suggest that genetic information may increase worry/anxiousness and health-seeking behaviors among consumers of DTC tests
Bloss et al. [30]	N Engl J Med	We recruited subjects from health and technology companies who elected to purchase the Health Compass at a discounted rate. Subjects reported any changes in symptoms of anxiety, intake of dietary fat, and exercise behavior at a mean (±SD) of 5.6 ± 2.4 months after testing, as compared with baseline, along with any test-related distress and the use of health-screening tests. From a cohort of 3,639 enrolled subjects, 2,037 completed follow-up	Primary analyses showed no significant differences between baseline and follow-up in anxiety symptoms (p = 0.80), dietary fat intake (p = 0.89), or exercise behavior (p = 0.61). Secondary analyses revealed that test-related distress was positively correlated with the average estimated lifetime risk among all the assessed conditions (β = 0.117, ρ < 0.001). However, 90.3% of subjects who completed follow-up had scores indicating no test-related distress. There was no significant increase in the rate of use of screening tests associated with genomewide profiling, most of which are not considered appropriate for screening asymptomatic persons in any case
Corpas [64]	J Genet Couns	This article presents a personal journey of a closeknit family from Malaga, Spain who engaged with direct-to-consumer (DTC) genomic testing. A thoughtful account, written in the first person, is offered on the experience of genome testing across the various members of the family together with a reflection on how it felt to be a custodian of the ’family genome’	The way the family processed their genome information is explored and the difficulties and challenges that resulted are discussed. Whilst there is a wealth of literature that describes how families communicate information surrounding single genes, there is very little which explores the experience of communication about whole, shared genomes
Dar-Nimrod et al. [29]	Genet Med	Participants were led to believe that they had entered a study on the genetics of alcoholism and sleep disorders. Participants provided a saliva sample purportedly to be tested for the presence of relevant genes. While awaiting the results, they completed a questionnaire assessing their emotional state. They subsequently received a bogus report about their genetic susceptibility and completed a questionnaire about their emotional state and items assessing perceived control over drinking, relevant future drinking-related intentions, and intervention-related motivation and behavior	Participants who were led to believe that they had a gene associated with alcoholism showed an increase in negative affect, decrease in positive affect, and reduced perceived personal control over drinking. Reported intentions for alcohol consumption in the near future were not affected; however, individuals were more likely to enroll in a “responsible drinking” workshop after learning of their alleged genetic susceptibility
Dohany et al. [32]	J Genet Couns	Reports a case of a client who discovered she had a BRCA mutation following direct-to-consumer (DTC) genetic testing in the absence of genetic counseling	Significant psychological distress and confusion can occur as a result of DTC genetic testing for highly penetrant single gene disorders. Pre- and post-test genetic counseling in conjunction with DTC genetic testing may alleviate consumers’ distress and empower clients to proactively utilize their result information
Egglestone et al. [31]	J Genet Couns	An online survey was conducted (n = 275). Respondents were composed of individuals who had purchased a DTC genetic test and received their results (consumers, n = 189), as well as individuals who were either awaiting test results or considering purchasing a test (potential consumers, n = 86). Consumers were asked if their health behaviour or health anxiety had changed after receiving their results	In total, 27.3% of consumers claimed a change in health behaviour, all either positive or neutral, with no reported cessation of any existing health behaviour. A change in health anxiety was claimed by 24.6% of consumers, 85.3% of which were a reduction. Consumers had significantly better health behaviour scores than potential consumers (p = 0.02), with no significant difference in health anxiety
Franche et al. [33]	PeerJ	To assess and quantify emotional and behavioral reactions of consumers to their 23andMe Personal Genome Service report of three BRCA mutations that are common in Ashkenazi Jews, we invited all 136 BRCA1 and BRCA2 mutation-positive individuals in the 23andMe customer database who had chosen to view their BRCA reports to participate in this IRB-approved study. We also invited 160 mutation negative customers who were matched for age, sex and ancestry. Semi-structured phone interviews were completed for 32 mutation carriers, 16 women and 16 men, and 31 non-carriers	Eleven women and 14 men had received the unexpected result that they are carriers of a BRCA1 185delAG or 5382insC, or BRCA2 6174delT mutation. None of them reported extreme anxiety and four experienced moderate anxiety that was transitory. Remarkably, five women and six men described their response as neutral. Most carrier women sought medical advice and four underwent risk-reducing procedures after confirmatory mutation testing. Male carriers realized that their test results implied genetic risk for female relatives, and several of them felt considerably burdened by this fact. Sharing mutation information with family members led to screening of at least 30 relatives and identification of 13 additional carriers. Non-carriers did not report inappropriate actions, such as foregoing cancer screening. All but one of the 32 mutation-positive participants appreciated learning their BRCA mutation status
James et al. [27]	Mayo Clin Proc	Patients attending a preventive medicine clinic were randomly assigned to receive either genomic risk information from a DTC product plus usual care (n = 74) or usual care alone (n = 76), 150 patients agreed to participate	Compared with those receiving usual care, participants who received genomic risk information initially rated their risk as higher for four conditions [abdominal aneurysm (p = 0.001), Graves disease (p = 0.04), obesity (p = 0.01), and osteoarthritis (p = 0.04)] and lower for one [prostate cancer (p = 0.02)]. Although differences were not significant, they also reported higher levels of worry for seven conditions and lower levels for five others. At 1 year, there were no significant differences between groups
Kaufman et al. [25]	J Genet Couns	Conducted online survey of DTC customers of 23andMe, deCODEme, and Navigenics. Random samples of U.S. DTC customers were invited to participate. Of 3,167 DTC customers invited, 33% (n = 1,048) completed the survey	Forty-three percent of respondents had sought additional information about a health condition tested; 28% had discussed their results with a health care professional; and 9% had followed up with additional lab tests. Sixteen percent of respondents had changed a medication or supplement regimen, and one third said they were being more careful about their diet. Many of these health-related behaviors were significantly associated with responses to a question that asked how participants would perceive their colon cancer risk (as low, moderate, or high) if they received a test result showing an 11% lifetime risk, as compared to 5% risk in the general population
Health care impact/sharing results with providers
Austin and Hegele [65]	Can J Cardiol	Information to guide physicians and patients on how to react clinically to direct-to-consumer (DTC) genetic testing for cardiovascular disease (CVD) is scarce. We discuss selected results and interpretation of this testing, and the outcome of subsequent lifestyle interventions that proved central to the management of one patient. We report the case of a 52-year-old man with a family history of CVD who had DTC genetic testing performed	We discuss selected results and interpretation of this testing and the outcome of subsequent lifestyle interventions. Despite the information this new technology seemed to provide, traditional advice on lifestyle modification was central to his management
Kaphingst et al. [23]	Genet Med	This study examined patients’ recall and interpretation of, and responses to, genetic susceptibility test results provided directly by mail. This observational study had three prospective assessments (before testing, 10 days after receiving results, and 3 months later). Participants were 199 patients aged 25–40 years who received free genetic susceptibility testing for eight common health conditions	More than 80% of the patients correctly recalled their results for the eight health conditions. Patients were unlikely to interpret genetic results as deterministic of health outcomes (mean = 6.0, s.d. = 0.8 on a scale of 1–7, 1 indicating strongly deterministic). In multivariate analysis, patients with the least deterministic interpretations were white (p = 0.0098), more educated (p = 0.0093), and least confused by results (p = 0.001). Only 1% talked about their results with a provider. Findings suggest that most patients will correctly recall their results and will not interpret genetics as the sole cause of diseases. The subset of those confused by results could benefit from consultation with a healthcare provider, which could emphasize that health habits currently are the best predictors of risk. Providers could leverage patients’ interest in genetic tests to encourage behavior changes to reduce disease risk
Reid et al. [35]	Genet Med	The objective of this work was to examine whether offers of multiplex genetic testing increase health-care utilization among healthy patients aged 25–40 years. A total of 1,599 continuously insured adults aged 25–40 years were surveyed and offered a multiplex genetic susceptibility test for eight common health conditions	In the pretest period, persons choosing genetic testing used an average of 1.02 physician visits per quarter as compared with 0.93 and 0.82 for the baseline-only and Web-only groups, respectively (p < 0.05). There were no statistically significant differences by group in the pretest use of any common medical tests or procedures associated with four common health conditions. When changes in physician and medical test/procedure use in the posttest period were compared among the groups, no statistically significant differences were observed for any utilization category
Saunders et al. [66]	Hered Cancer Clin Pract	We describe an Ashkenazi Jewish patient who illustrates that current testing criteria are too restrictive, particularly for this population of patients. The patient’s sister was diagnosed with breast cancer at age 33; however, she was not a mutation carrier. Based on practice guidelines, the patient was not recommended genetic testing. She subsequently underwent direct-to-consumer (DTC) testing and discovered that she was a mutation carrier	This case demonstrates the need for clinicians to be aware of the higher prevalence of BRCA mutations in the Ashkenazi population. It also exemplifies the need to involve medical professionals, including genetic counselors, in the dissemination of DNA test results
Sturm and Manickam [67]	J Genet Couns	We present an in-depth case study of an individual who ordered DTC genetic testing and subsequently sought genetic counseling	This case presents a unique learning experience for the field of genomic counseling, as the patient did not fit the typical assumptions regarding ’early adopters’ of DTC testing. It also allowed the genetics health care providers involved in the case to identify gaps in current genetic counseling practice that need to be filled and approaches to employ for successful delivery of genomic counseling. Based on our experience, we developed practical recommendations for genomic counseling, which include novel approaches to case preparation, use of electronic tools during the counseling session, and focusing on education as the major component of the genomic counseling session, in order to provide patients with the knowledge necessary to independently interpret and understand large amounts of genomic testing information provided to them
Provider attitudes/experiences
Brett et al. [39]	Eur J Hum Genet	This study explores genetic health professionals’ opinions of health-related DTC-GT and the reported frequency of individuals presenting to clinical genetics services after undertaking testing. Genetic counsellors and clinical geneticists, members of the Human Genetics Society of Australasia, completed an online survey in mid 2011	Nineteen respondents (11%) reported one or more client(s) referred to them after undertaking DTC-GT. Descriptions of 25 clients were extracted from responses, and respondents reported that all clients were concerned for the health of either themselves or family members. Most clients presented to genetic clinics specifically as a result of their DTC-GT (96%) and were self or GP referred (92%). Respondents perceived that their clients typically undertook DTC-GT because they wanted to identify monogenic conditions, including carrier testing and/or know their susceptibility or predisposition for complex conditions (88%). The majority of clients needed help interpreting DTC-GT results (80%), however in general were not questioning the validity of their DTC-GT results (92%) nor seeking further genetic testing (84%)
Hock et al. [38]	Genet Med	This study assesses genetic counselors’ experience, knowledge, and beliefs regarding direct-to-consumer genetic testing for tests that would currently be offered in genetics clinics. Members of the National Society of Genetic Counselors completed a web-administered survey in February 2008. There were 312 respondents	Eighty-three percent of respondents had two or fewer inquiries about direct-to-consumer genetic testing, and 14% had received requests for test interpretation or discussion. Respondents believed that genetic counselors have a professional obligation to be knowledgeable about direct-to-consumer genetic testing (55%) and interpret results (48%). Fifty-one percent of respondents thought genetic testing should be limited to a clinical setting; 56% agreed direct-to-consumer genetic testing is acceptable if genetic counseling is provided. More than 70% of respondents would definitely or possibly consider direct-to-consumer testing for patients who (1) have concerns about genetic discrimination, (2) want anonymous testing, or (3) have geographic constraints
Powell et al. [36]	J Genet Couns	To assess the educational needs of North Carolina primary care physicians (PCPs) about direct-to-consumer (DTC) genetic testing, surveys were mailed to 2,402 family and internal medicine providers in North Carolina	Out of 382 respondents, 323 (85%) felt unprepared to answer patient questions and 282 (74%) reported wanting to learn about DTC genetic testing. A total of 148 (39%) were aware of DTC genetic testing. Among these, 63 (43%) thought DTC genetic testing was clinically useful. PCPs who felt either unprepared to answer patient questions (OR00.354, p00.01) or that DTC genetic testing was clinically useful (OR05.783, p00.00) were more likely to want to learn about DTC genetic testing. PCPs are interested in learning about DTC genetic testing, but are mostly unaware of DTC testing and feel unprepared to help patients with DTC testing results
Powell et al. [37]	J Genet Couns	The purpose of this study was to assess primary care physicians’ awareness, experience, opinions and preparedness to answer patients’ questions regarding direct-to-consumer (DTC) genetic testing. An anonymous survey was mailed to 2,402 family and internal medicine providers in North Carolina	An anonymous survey was mailed to 2,402 family and internal medicine providers in North Carolina. Of the 382 respondents, 38.7% (n = 148) were aware of and 15% (n = 59) felt prepared to answer questions about DTC genetic tests. Respondents aged 50 or older were more likely to be aware of DTC genetic testing than those less than 40 years old (OR = 2.42). Male providers were more likely to feel prepared to answer questions than female providers (OR = 2.65). Among respondents who reportedly were aware, family practitioners were more likely than internists (OR = 3.30) to think DTC testing was clinically useful, and 18.9% had patients ask questions or bring in test results

Italics denotes article cited in text

^aExtracted from authors’ abstract