Greater attention towards genetics as a contributor to group health differences may lead to inappropriate use of race/ethnicity and gender as genetic heuristics and exacerbate health disparities. As part of a web-based survey, 1,035 family physicians (FPs) rated the contribution of genetics and environment to racial/ethnic and gender differences in health outcomes, and the importance of race/ethnicity and gender in their clinical decision-making. FPs attributed racial/ethnic and gender differences in health outcomes equally to environment and genetics. These beliefs were not associated with rated importance of race/ethnicity or gender in clinical decision-making. FPs appreciate the complexity of genetic and environmental influences on health differences by race/ethnicity and gender.
Genetics; Race; Ethnicity; Gender; Clinical practice; Health disparities
Little is known about how beliefs about heredity as a cause of health conditions might influence preventive and interpersonal behaviors among those individuals with low genetic and health literacy. We explored causal beliefs about podoconiosis, a neglected tropical disease (NTD) endemic in Ethiopia. Podoconiosis clusters in families but can be prevented if individuals at genetically high risk wear shoes consistently. Adults (N = 242) from four rural Ethiopian communities participated in qualitative assessments of beliefs about the causes of podoconiosis. Heredity was commonly mentioned, with heredity being perceived as (1) the sole cause of podoconiosis, (2) not a causal factor, or (3) one of multiple causes. These beliefs influenced the perceived controllability of podoconiosis and in turn, whether individuals endorsed preventive and interpersonal stigmatizing behaviors. Culturally informed education programs that increase the perceived controllability of stigmatized hereditary health conditions like podoconiosis have promise for increasing preventive behaviors and reducing interpersonal stigma.
Unprecedented advances in human genome science are underway with potential to benefit public health. For example, it is estimated that within a decade, geneticists and epidemiologists will complete a catalog of the majority of genes associated with common chronic diseases. Such rapid advances create possibilities, if not the mandate, for translational research in how best to apply these and other anticipated discoveries for both individual and population health benefit. Driving these discoveries are rapid advances in infrastructure (e.g., the International HapMap Project to catalog human genetic variation; http://www.hapmap.org), analytical methods, and technology. This expansion in capabilities quickly has taken us from a genetics paradigm—where the influence of individual genes on health outcomes is paramount, to a genomics paradigm—where the complex influence of individual genes is considered in concert with each other and with environmental exposures on health outcomes. We discuss these and similar groundbreaking discoveries with an eye toward understanding their importance to child health and human development, and the role of behavioral science research conducted at the interface of pediatrics and genomic discovery.
The role of footwear in protection against a range of Neglected Tropical Diseases (NTDs) is gaining increasing attention. Better understanding of the behaviors that influence use of footwear will lead to improved ability to measure shoe use and will be important for those implementing footwear programs.
Using the PRECEDE-PROCEED model we assessed social, behavioral, environmental, educational and ecological needs influencing whether and when children wear shoes in a rural highland Ethiopian community endemic for podoconiosis. Information was gathered from 242 respondents using focus groups, semi-structured interviews and extended case studies. Shoe-wearing norms were said to be changing, with going barefoot increasingly seen as ‘shameful’. Shoes were thought to confer dignity as well as protection against injury and cold. However, many practical and social barriers prevented the desire to wear shoes from being translated into practice. Limited financial resources meant that people were neither able to purchase more than one pair of shoes to ensure their longevity nor afford shoes of the preferred quality. As a result of this limited access, shoes were typically preserved for special occasions and might not be provided for children until they reached a certain age. While some barriers (for example fit of shoe and fear of labeling through use of a certain type of shoe) may be applicable only to certain diseases, underlying structural level barriers related to poverty (for example price, quality, unsuitability for daily activities and low risk perception) are likely to be relevant to a range of NTDs.
Using well established conceptual models of health behavior adoption, we identified several barriers to shoe wearing that are amenable to intervention and which we anticipate will be of benefit to those considering NTD prevention through shoe distribution.
Consistently wearing shoes may help in preventing onset or progression of a wide range of Neglected Tropical Diseases (NTDs). This study assessed the factors that influenced shoe wearing behaviors among people living in a rural community in highland Ethiopia. In this community, a substantial proportion of people are at risk for podoconiosis, a debilitating lower leg condition that can be prevented by wearing shoes. We conducted semi-structured individual interviews, focus group discussions and extended case studies among 242 adults and systematically analyzed the information. We found that shoe wearing is intermittent, and that different factors such as cost and ability to use the shoes for certain activities (such as farming) influenced consistent shoe wearing for most people. Some factors (such as shoe size, fear of stigma) were more relevant for podoconiosis patients. Social norms were found to be increasingly supportive of shoe wearing, and children exhibited greater desire to wear shoes than adults. These findings have relevance for preventing development and progression of a variety of NTDs in a range of settings.
The identification of genetic variants associated with common disease is accelerating rapidly. “Multiplex tests” that give individuals feedback on large panels of genetic variants have proliferated. Availability of these test results may prompt consumers to use more healthcare services.
To examine whether offers of multiplex genetic testing increases healthcare utilization among healthy patients aged 25–40.
1,599 continuously insured adults aged 25–40 were surveyed and offered a multiplex genetic susceptibility test (MGST) for eight common health conditions.
Main Outcome Measure
Healthcare utilization from automated records was compared in 12 month pre- and post-test periods among persons who completed a baseline survey only (68.7%), those who visited a study Web site but opted not to test (17.8%), and those who chose the MGST (13.6%).
In the pre-test period, persons choosing genetic testing used an average of 1.02 physician visits per quarter compared to 0.93 and 0.82 for the other groups (p<0.05). There were no statistically significant differences by group in the pre-test 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 post-test period were compared among groups, no statistically significant differences were observed for any utilization category.
Persons offered and completing multiplex genetic susceptibility testing used more physician visits prior to testing, but testing was not associated with subsequent changes in use. This study supports that multiplex genetic testing offers can be provided directly to patients in such a way that use of health services are not inappropriately increased.
genetic susceptibility; delivery of health care; genetic testing; genetic counseling
The application of genomics to population health has the potential to revolutionize the practice of medicine. Indeed, discoveries into the genomic basis of cancer and other common chronic diseases have resulted in new and improved predictive tests for identifying individuals at increased risk for these conditions and long before their onset occurs. When used properly, information gained from predictive genomic tests can be combined with other leading indicators (e.g., environmental and behavioral risk factors) to inform medical management decisions, preventive health practices, and risk-reducing strategies. However, genomics remains an emerging science and the translation of genomic discoveries into improved population health management remains elusive. There are divides in the translational science continuum at several junctures, and many of these divides could be narrowed or closed with additional data. For example, we know relatively little about how to effectively communicate with the public about the complex interplay among genomics, behavior, and health. Moreover, there is a need to develop better methods of counseling and educating the public in light of newly emerging knowledge about the genomic basis of health and disease. We assert that the discipline of psychology, and health psychology in particular, is well-poised to continue to make significant contributions to this growing area of science and practice. Through a focus on health-related social and behavioral research, psychology can lead the way in overcoming divides in communication, understanding, and action about genomics for the betterment of both individual and public health practices.
genetics; genomics; communication; health; behavior
Genetic markers of lung cancer susceptibility, such as the common variant of the glutathione S-transferase Mu 1 gene (GSTM1-null), confer small probabilities of disease risk. We explored the influence of different approaches to communicating the small variations in risk associated with this biomarker. College smokers (N = 128) imagined that they had the GSTM1 wild-type vs. the GSTM1 null-type variant. We presented lung cancer risk in six ways that varied the risk format (absolute risk vs. incremental risk) and the presentation style of the information (no graphics vs. graphic display of foreground only vs. graphic display of foreground + background). Presentation style had minor effects. However, absolute risk information increased negative emotions more than did incremental risk information. Perceptions of risk and negative emotions were most profoundly affected by the difference between having the GSTM1 wild-type vs. the GSTM1 null-type variant. We discuss implications for conveying small probabilities related to genetic risk.
Negative emotions; risk perceptions; GSTM1; lung cancer; genes; risk communication; fuzzy trace theory
Examination of patients’ responses to direct-to-consumer genetic susceptibility tests is needed to inform clinical practice. This study examined patients’ recall and interpretation of, and responses to, genetic susceptibility test results provided directly by mail.
This observational study had 3 prospective assessments (before testing; 10 days after receiving results; 3 months later). Participants were 199 patients aged 25–40 who received free genetic susceptibility testing for 8 common health conditions.
Over 80% correctly recalled their results for the 8 health conditions. Patients were unlikely to interpret genetic results as deterministic of health outcomes (mean=6.0, SD=0.8 on 1–7 scale, 1 indicating strongly deterministic). In multivariate analyses, patients with the least deterministic interpretations were White (p=.0098), more educated (p=.0093), and least confused by results (p=.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 health care 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.
Direct-to-consumer genetic tests; genetic testing; understanding; provider-patient communication; public health genomics
To assess whether reactions to genetic explanations for disparities in lung cancer incidence among family members of African American patients with lung cancer are associated with willingness to participate in clinical genetics research.
Data are reported for 67 self-identified African Americans ages 18 to 55 years who completed a telephone survey assessing reactions to explanations (i.e., genetics, toxin exposure, menthol cigarettes, race-related stress) for lung cancer disparities. Majority was female (70%), current smokers (57%), and patients’ biological relatives (70%).
Family members’ rated the four explanations similarly, each as believable, fair and not too worrisome. Participants also indicated a high level of willingness to participate in genetics research (M= 4.1 ± 1.0; Scale 1–5). Endorsements of genetics explanations for disparities as believable and fair, and toxin exposure as believable were associated significantly with willingness to participate in genetics research.
These results suggest that strategies to encourage African Americans’ participation in genetics research would do well to inform potential participants of how their involvement might be used to better understand important environmental factors that affect health disparities.
African Americans; lung cancer disparities; willingness to participate; clinical genetics research; psychosocial factors
Varying perspectives exist regarding the implications of genetic susceptibility testing for common disease, with some anticipating adverse effects and others expecting positive outcomes; however, little is known about the characteristics of people who are most likely to be interested in direct-to-consumer genetic testing. To that end, this study examines the association of individual dispositional differences with health risk perceptions and online information seeking related to a free genetic susceptibility test. Healthy adults enrolled in a large health maintenance organization were surveyed by telephone. Eligible participants (N = 1,959) were given access to a secure website that provided risk and benefit information about a genetic susceptibility test and given the option to be tested. Neuroticism was associated with increased perceptions of disease risk but not with logging on. Those scoring high in conscientiousness were more likely to log on. We found no evidence that neuroticism, a dispositional characteristic commonly linked to adverse emotional response, was predictive of online genetic information seeking in this sample of healthy adults.
Direct-to-consumer genetic tests; Information seeking; Perceived risk; Individual differences
Increased availability of genetic risk information may lead the public to give precedence to genetic causation over behavioral/environmental factors, decreasing behavior change motivation. Few population-based data inform these concerns.
We assess the association of family history, behavioral risks, and causal attributions for diseases and the perceived value of pursuing information emphasizing health habits or genes.
1959 healthy adults completed a survey that assessed behavioral risk factors, family history, causal attributions of eight diseases, and health information preferences.
Participants’ causal beliefs favored health behaviors over genetics. Interest in behavioral information was higher than in genetic information. As behavioral risk factors increased, inclination toward genetic explanations increased; interest in how health habits affect disease risk decreased.
Those at greatest need for behavior change may hold attributions that diminish interest in behavior change information. Enhancing understanding of gene-environment influences could be explored to increase engagement with health information.
genetic testing; attribution; family history; behavioral risk factors
Assessment of smokers’ responses to individualized feedback of genetic susceptibility has shown little or no influence on smoking cessation outcomes. One explanation is that smokers may be having unintended responses that undermine the feedback’s motivational impact (e.g., fatalism or downplaying risk). In preparation for a large randomized trial with college smokers, we conducted a qualitative pilot study to explore smokers’ motives for genetic testing and how these motives might influence interpretation of genetic risk feedback.
Prior to reviewing informational materials describing a test for the glutathione S-transferase M1 gene, 33 college smokers (18 to 21 years) participated in a 30 minute, semi-structured, open-ended interview regarding their attitudes on health risks, genetic testing in general, genetic testing for lung cancer risk, and informational needs regarding genetics and genetic testing for lung cancer risk.
Two central themes emerged from analysis of the interviews: general impressions of genetic testing and perceived value of genetic testing. Prominent in the second theme was the finding that genetic risk feedback may be unsuccessful in motivating quitting a) due to skepticism about genetic tests, b) participants dismissing genetic feedback as personally irrelevant, and c) participants receiving low risk results justifying continued smoking in light of public health messages that “it’s never too late to quit”. These findings require careful consideration among health professionals looking to genetic risk feedback as a vehicle to motivate disease prevention or behavior change.
genetic testing; risk communication; smoking cessation; qualitative methods
The manuscript examines the influence of contextual factors on whether and for whom a colon polyp diagnosis might be a teachable moment, as indicated by engagement with a proactively delivered intervention. Baseline and 8-month follow-up data were analyzed from a two-site behavioral intervention trial with patients in Massachusetts and North Carolina, USA who had recently undergone polypectomy for pre-cancerous colon polyps and were randomized to a behavior change intervention condition (N = 591). Intervention “buy-in” was used as an indicator of response consistent with the polyp identification serving as a teachable moment. Cancer worry, personal risk, health-related self-identity and other sociodemographic factors were tested to predict intervention buy-in. As predicted, those who were most worried about colon cancer were most likely to engage in the intervention. One indicator of personal risk, number of risk behaviors, was significantly and negatively associated with buy-in. Predictors of intervention buy-in and cancer worry were not consistent. We recommend that expanded measures of affect and health-related self-identity should be considered in future research to understand the motivational potential of health events for increasing engagement in effective behavior change interventions.
Worry; Teachable moment; Behavior change; USA; Colon cancer
Providing smokers with personal genetic test results indicating increased lung cancer risk may increase uptake of effective smoking cessation services. Using the internet may increase reach and enable real-time assessment of how people process genetic risk information away from the clinic setting. We therefore explored smokers' responses to Web-delivered GSTM1 genetic test results indicating higher or lower lung cancer risk. Participants were smokers (n = 44) biologically related to patients with newly diagnosed lung cancer. Measures were assessed at baseline, before and immediately after receipt of online genetic test results, and at 6-month follow-up. Outcomes included accurate comprehension of results, regret about being tested, cessation-related cognitions (e.g., perceived response efficacy), and uptake of free smoking cessation services (nicotine replacement therapy, printed self-help materials, telephone counseling sessions). Twenty-two “relative smokers” received a GSTM1-missing (higher risk) and 22 a GSTM1-present (lower risk) result. All relative smokers with GSTM1-missing results and 55% of those with GSTM1-present results accurately interpreted their results. No relative smokers regretted having taken the test. Relative smokers receiving GSTM1-missing results reported lower confidence that quitting could reduce lung cancer risk (perceived response efficacy) than those receiving GSTM1-present results. There were no other significant between-group differences. Uptake of smoking cessation services was high (e.g., 91% nicotine replacement therapy uptake). Genetic test results may not influence uptake of free smoking cessation services because of ceiling effects. Further research is needed to determine the risks and benefits of Web-based disclosure of genetic test results.
Cancer coping styles have been associated with several cancer-related outcomes. We examined whether baseline lifestyle behaviors differed between cancer survivors with fatalistic vs fighting-spirit coping styles, and whether there was differential response to two diet-exercise mailed-print interventions, one standardized and another individually tailored.
Baseline differences by coping style are presented for 628 breast and prostate cancer survivors who participated in the FRESH START trial, along with multivariable analyses on rates of uptake by coping style and arm assignment for those completing the 2-year trial.
At baseline, several differences were observed between fighting-spirits and fatalists, with the former significantly more likely to be white, younger, leaner, more-educated and at risk for depression, and less likely to consume 5+ fruits and vegetables (F&V)/day (p-values<0.05). Improvements in physical activity were observed, with fighting-spirits exhibiting the greatest gains from baseline to Year-1, regardless of intervention type; but by Year-2, these differences diminished as fatalists gained ground. Moreover, fatalists who received standardized intervention material also charted steady improvements in F&V intake over the study period; by Year-2, 58.1% of fatalists achieved the 5-a-day goal vs 44.6% of fighting-spirits (p-value<0.05).
Lifestyle behaviors and health message uptake differs by cancer coping style. Although tailored interventions appear most effective and minimize differential uptake, standardized interventions also can improve behaviors, though fighting-spirits may require additional boosters to maintain change.
coping; personality traits; diet; exercise; interventions; cancer survivors
To evaluate what psychological and behavioral factors predict who is likely to seek SNP-based genetic test for multiple common health conditions where feedback can be used to motivate primary prevention.
Adults aged 25 to 40, who were enrolled in a large managed care organization were surveyed. Those eligible could log on to a secure study Web site to review information about the risks and benefits of a SNP-based genetic test and request free testing. Two primary outcomes are addressed: Accessing the Web (yes, no) and deciding to be tested (completed a blood draw at the clinic)
Those considering genetic susceptibility testing did hold genetically deterministic beliefs (0.42 on scale of 0-behavior to 1-genetic), but believed genetic information to be valuable and were confident they could understand such information. Individuals who believed it important to learn about genetics (OR=1.28), were confident they could understand genetics (OR=1.26), and reported the most health habits to change (OR=1.39) were most likely to get tested.
Physician-patient interactions could benefit if physicians develop “net friendly” strategies to capitalize on patients’ interest in online genetics information and leverage the interaction as a teachable moment to encourage family health history assessment and improved health behaviors.
personalized genomics; risk assessment; internet; psychosocial predictors
To describe parents' attitudes toward pediatric genetic testing for common, adult-onset health conditions and to identify factors underlying these attitudes.
PARTICIPANTS AND METHODS:
Parents (n = 219) enrolled in a large, group-practice health plan were offered a “multiplex” genetic test for susceptibility to 8 common, adult-onset health conditions and completed an online survey assessing attitudes and beliefs about the risks and benefits of the test for their child, their willingness to consider having their child tested, and other psychosocial variables.
Parents viewed the benefits of pediatric testing to outweigh its risks (positive decisional balance) and were moderately interested in pediatric testing. Variables associated with positive decisional balance included greater interest in knowing about gene-health associations in their child, anticipation of less difficulty understanding their child's genetic health risks, and more positive emotional reactions to learning about their child's decreased health risks (adjusted R2 = 0.33, P < .0001). Similarly, variables associated with greater parental willingness to test were being a mother (versus being a father), greater perceived risk of diseases in their child, greater interest in knowing about gene-health relationships in their child, anticipating less difficulty learning about their child's genetic health risks, anticipating more positive emotional reactions to learning about their child's decreased health risks, and positive decisional balance (adjusted R2 = 0.57, P < .0001).
As genetic susceptibility testing for common, adult-onset health conditions proliferates, pediatricians should anticipate parents' interest in testing children and be prepared to facilitate informed decision making about such testing.
genetic testing; chronic disease; risks and benefits; children; parents
Advances in technology have made individual access to personal genetic information foreseeable in the near future. Policy makers and the media forecast that the ready availability of personal genetic profiles would benefit both the individual and the health care system by improving outcomes and decreasing cost. However, there is a significant gap between having access to genetic data and either wanting or understanding the information it provides. Objective: Our primary aim was to evaluate, using a population-based sample of healthy adults, whether gender, race and education status influences interest and participation in a multiplex genetic susceptibility test.
Healthy, insured individuals, 25–40 years of age, were approached via a large, integrated health system in which primary and specialty care is available. Study participants were offered personalized genetic risk information on 8 common chronic health conditions. Social groups historically known not to participate in genetic research (men, African Americans and those from lower education neighborhoods) were oversampled. We describe the recruitment outcomes and testing decisions of these social groups.
We found that even among those with access to health care, African Americans were less likely to participate in the multiplex genetic susceptibility test, while those from higher education neighborhoods were more likely to participate.
Our results suggest that large social groups will likely be underrepresented in research in personalized genomics even when robust population-based recruitment strategies are employed.
Multiplex genetic susceptibility test; Race; Gender; Education
Assessment of smokers’ responses to individualized feedback of genetic susceptibility has shown little or no influence on smoking cessation outcomes. One explanation is that smokers may be having unintended responses that undermine the feedback’s motivational impact (e.g., fatalism or downplaying risk). In preparation for a large randomized trial with college smokers, we conducted a qualitative pilot study to explore smokers’ motives for genetic testing and how these motives might influence interpretation of genetic risk feedback. Prior to reviewing informational materials describing a test for the glutathione S-transferase M1 gene, 33 college smokers (18 to 21 years) participated in a 30-min, semistructured, open-ended interview regarding their attitudes on health risks, genetic testing in general, genetic testing for lung cancer risk, and informational needs regarding genetics and genetic testing for lung cancer risk. Two central themes emerged from an analysis of the interviews: general impressions of genetic testing and perceived value of genetic testing. Prominent in the second theme was the finding that genetic risk feedback may be unsuccessful in motivating quitting (a) due to skepticism about genetic tests, (b) participants dismissing genetic feedback as personally irrelevant, and (c) participants receiving low-risk results justifying continued smoking in light of public health messages that “it’s never too late to quit.” These findings require careful consideration among health professionals looking to genetic risk feedback as a vehicle to motivate disease prevention or behavior change.
Genetic testing; Risk communication; Smoking cessation; Qualitative methods
Advances in the genetic basis of kidney disease may mean that genetic testing is increasingly important in reducing disease morbidity and mortality among patients. However, there is little research examining patient responses to genetic information for Mendelian and common kidney diseases. Existing research on kidney and other hereditary cancer syndromes can inform three major issues relevant to the nephrology context: (1) how patients understand their risk of disease following genetic counseling and testing; (2) their emotional responses to the information; and (3) their uptake of recommended risk-reducing strategies. Prior research suggests that genetic counseling and testing may improve patient understanding of genetics, but patients still might not fully understand the meaning of their results for disease risk. Genetic counseling and testing does not appear to result in long-term negative emotional effects among patients who carry mutations or those who do not. Finally, while genetic counseling and testing may improve adherence to recommended screening strategies, adherence varies substantially across different risk-reduction options. Previous research also suggests that computer-based interventions might be a useful adjunct to genetic counseling approaches. Examining whether and how these prior findings relate to the context of hereditary kidney disease is an important area for future research.
hereditary cancer syndromes; genetic counseling; risk perception; screening behaviors; health literacy
Social and behavioral research needs to get started now if we are to direct genomic discoveries to address pressing public health problems. Advancing social and behavioral science will require innovative and rigorous communication methodologies that move us beyond reliance on traditional tools and their inherent limitations. One such emerging research tool is immersive virtual environment technology (aka: virtual reality), a methodology that gives researchers the ability to maintain high experimental control and mundane realism of scenarios, portray and manipulate complex, abstract objects and concepts, and implement innovative implicit behavioral measurement. This report suggests the role that immersive virtual environment technology can play in furthering future research in genomics-related: education, decision-making, test intentions, behavior change, and healthcare provider behaviors. Practical implementation and challenges are also discussed.
virtual reality; genetics; genomics; health education; methodology
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.
Genetic testing/methods; genetic testing/psychology; genetic predisposition to disease/psychology; health knowledge, attitudes, practice; health surveys; internet/utilization; polymorphism, single nucleotide; public health/methods; risk assessment/methods
The increasing availability of personal genomic tests has led to discussions about the validity and utility of such tests and the balance of benefits and harms. A multidisciplinary workshop was convened by the National Institutes of Health and the Centers for Disease Control and Prevention to review the scientific foundation for using personal genomics in risk assessment and disease prevention and to develop recommendations for targeted research. The clinical validity and utility of personal genomics is a moving target with rapidly developing discoveries but little translation research to close the gap between discoveries and health impact. Workshop participants made recommendations in five domains: (1) developing and applying scientific standards for assessing personal genomic tests; (2) developing and applying a multidisciplinary research agenda, including observational studies and clinical trials to fill knowledge gaps in clinical validity and utility; (3) enhancing credible knowledge synthesis and information dissemination to clinicians and consumers; (4) linking scientific findings to evidence-based recommendations for use of personal genomics; and (5) assessing how the concept of personal utility can affect health benefits, costs, and risks by developing appropriate metrics for evaluation. To fulfill the promise of personal genomics, a rigorous multidisciplinary research agenda is needed.
behavioral sciences; epidemiologic methods; evidence-based medicine; genetics; genetic testing; genomics; medicine; public health