Christopher H. Wade

Patients’ understanding of and responses to multiplex genetic susceptibility test results

Purpose: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.Methods: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.Results: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.Conclusion: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.Genet Med advance online publication 5 April 2012

Effects of genetic risk information on children's psychosocial wellbeing: A systematic review of the literature

Purpose: As advances in research have made a growing number of genetic tests available, clinicians will increasingly be faced with making decisions about when offering genetic testing services to children is appropriate. A key factor in such decisions involves determining whether knowledge of genetic health risks might have an impact on childrens psychosocial wellbeing.Methods: We conducted a systematic review of the literature using five online databases to identify studies that assessed the impact of communicating nondiagnostic carrier or presymptomatic genetic test results to children.Results: A total of 17 articles met the inclusion criteria for this review. These studies used a wide range of methodologies to explore carrier and predictive testing. Although there was little quantitative evidence that receiving genetic test results led to a significant impact on childrens psychosocial wellbeing, it was found that methodological inconsistencies, small samples, and reliance on assessments most appropriate for psychopathology make any firm conclusions about the impact of genetic testing on children premature.Conclusion: Currently, there is insufficient evidence to inform a nuanced understanding of how children respond to genetic testing. This suggests a strong need for further research that uses rigorous approaches to address childrens emotional states, self-perception, and social wellbeing.

Consumers’ use of web-based information and their decisions about multiplex genetic susceptibility testing

Background 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. Objective 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. Methods 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. Results 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). Conclusions 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.

Growing Up in the Genomic Era: Implications of Whole-Genome Sequencing for Children, Families, and Pediatric Practice

Whole-genome sequencing (WGS) has advanced to a point where it is beginning to be integrated into pediatric practice. With little consensus on how to maximize the benefits of WGS for children, there is a growing need for focused efforts that connect researchers, clinicians, and families to chart a path forward. To illustrate relevant concerns, two contrasting applications of pediatric WGS are explored: clinical use with children who have undiagnosed conditions, and population-based screening. Specific challenges for health care services, policy development, and the well-being of children are discussed in light of current research. In the interest of ensuring evidence-based pediatric WGS, strategies are identified for advancing our understanding of what it means for children to grow up with WGS results guiding their health care.

Associations between risk perceptions and worry about common diseases: A between- and within-subjects examination

The relationships between worry and perceptions of likelihood and severity were evaluated across eight common diseases. Individual and disease variability in worry and perceptions were examined. 294 participants were recruited through the Multiplex Initiative, in which a genetic susceptibility test for eight common diseases was offered to healthy adults. Participants completed a baseline telephone survey and web-based surveys without a commitment to be tested, and then made a choice on testing. Between- and within-subjects analyses yielded the following main findings: (1) worry is more closely related to likelihood perceptions than to severity perceptions; (2) severity perceptions add significantly to explained worry variances above and beyond likelihood perceptions; (3) risk perceptions and worries form two clusters: cancer diseases and cardiovascular–metabolic diseases; and (4) variance in risk perception and worry is explained by a combination of between- and within-subjects variances. Risk perception research should attend to severity perceptions, within-subjects variability and inter-disease differences, and to strategies for grouping conditions.

Modelling decisions to undergo genetic testing for susceptibility to common health conditions: An ancillary study of the Multiplex Initiative

New genetic tests reveal risks for multiple conditions simultaneously, although little is understood about the psychological factors that affect testing uptake. We assessed a conceptual model called the multiplex genetic testing model (MGTM) using structural equation modelling. The MGTM delineates worry, perceived severity, perceived risk, response efficacy and attitudes towards testing as predictors of intentions and behaviour. Participants were 270 healthy insured adults aged 25–40 from the Multiplex Initiative conducted within a health care system in Detroit, MI, USA. Participants were offered a genetic test that assessed risk for eight common health conditions. Confirmatory factor analysis revealed that worry, perceived risk and severity clustered into two disease domains: cancer or metabolic conditions. Only perceived severity of metabolic conditions was correlated with general response efficacy (β = 0.13, p<0.05), which predicted general attitudes towards testing (β = 0.24, p<0.01). Consistent with our hypothesised model, attitudes towards testing were the strongest predictors of intentions to undergo testing (β = 0.49, p<0.01), which in turn predicted testing uptake (OR 17.7, β = 0.97, p<0.01). The MGTM explained a striking 48% of the variance in intentions and 94% of the variation in uptake. These findings support use of the MGTM to explain psychological predictors of testing for multiple health conditions.

On averages and peaks: how do people integrate attitudes about multiple diseases to reach a decision about multiplex genetic testing?

Background. The aim of the current study was to learn how people integrate attitudes about multiple health conditions to make a decision about genetic testing uptake. Methods. This study recruited 294 healthy young adults from a parent research project, the Multiplex Initiative, conducted in a large health care system in Detroit, Michigan. All participants were offered a multiplex genetic test that assessed risk for 8 common health conditions (e.g., type 2 diabetes). Data were collected from a baseline survey, a web-based survey, and at the time of testing. Results. Averaging attitudes across diseases predicted test uptake but did not contribute beyond peak attitudes, the highest attitude toward testing for a single disease in the set. Peak attitudes were found sufficient to predict test uptake. Limitations. The effects of set size and mode of presentation could not be examined because these factors were constant in the multiplex test offered. Conclusions. These findings support theories suggesting that people use representative evaluations in attitude formation. The implication of these findings for further developments in genetic testing is that the communication and impact of multiplex testing may need to be considered in the light of a bias toward peak attitudes.

Risk perceptions and worry about common diseases: A between- and within-subjects examination

The relationships between worry and perceptions of likelihood and severity were evaluated across eight common diseases. Individual and disease variability in worry and perceptions were examined. 294 participants were recruited through the Multiplex Initiative, in which a genetic susceptibility test for eight common diseases was offered to healthy adults. Participants completed a baseline telephone survey and web-based surveys without a commitment to be tested, and then made a choice on testing. Between- and within-subjects analyses yielded the following main findings: (1) worry is more closely related to likelihood perceptions than to severity perceptions; (2) severity perceptions add significantly to explained worry variances above and beyond likelihood perceptions; (3) risk perceptions and worries form two clusters: cancer diseases and cardiovascular–metabolic diseases; and (4) variance in risk perception and worry is explained by a combination of between- and within-subjects variances. Risk perception research should attend to severity perceptions, within-subjects variability and inter-disease differences, and to strategies for grouping conditions.

Associations between risk perceptions and worry about common diseases

The relationships between worry and perceptions of likelihood and severity were evaluated across eight common diseases. Individual and disease variability in worry and perceptions were examined. 294 participants were recruited through the Multiplex Initiative, in which a genetic susceptibility test for eight common diseases was offered to healthy adults. Participants completed a baseline telephone survey and web-based surveys without a commitment to be tested, and then made a choice on testing. Between- and within-subjects analyses yielded the following main findings: (1) worry is more closely related to likelihood perceptions than to severity perceptions; (2) severity perceptions add significantly to explained worry variances above and beyond likelihood perceptions; (3) risk perceptions and worries form two clusters: cancer diseases and cardiovascular–metabolic diseases; and (4) variance in risk perception and worry is explained by a combination of between- and within-subjects variances. Risk perception research should attend to severity perceptions, within-subjects variability and inter-disease differences, and to strategies for grouping conditions.

Contents Vol. 15, 2012

R. Adany, Debrecen, Hungary A. Aaro, Odense, Denmark D. Avard, Montréal, Qué., Canada I. Blancquaert, Montréal, Qué., Canada J.-J. Cassiman, Leuven, Belgium E.E. Castilla, Rio de Janeiro, Brazil S. Grosse, Atlanta, Ga., USA J. Harris, Nydalen, Norway A. Haslberger, Vienna, Austria D. Ibarreta, Sevilla, Spain M. Karmali, Toronto, Ont., Canada H. Lehrach, Berlin, Germany J. Little, Ottawa, Ont., Canada N. Malats, Madrid, Spain M.J. Martin-Moreno, Copenhagen, Denmark C. McBride, Bethesda, Md., USA S.A. Morré, Amsterdam, Th e Netherlands D. Niese, Basel, Switzerland Editors-in-Chief