What Is the Psychosocial Impact of Providing Genetic and Genomic Health Information to Individuals? An Overview of Systematic Reviews.

Optimistic predictions that genetic and genomic testing will provide health benefits have been tempered by the concern that individuals who receive their results may experience negative psychosocial outcomes. This potential ethical and clinical concern has prompted extensive conversations between policy-makers, health researchers, ethicists, and the general public. Fortunately, the psychosocial consequences of such testing are subject to empirical investigation, and over the past quarter century, research that clarifies some of the types, likelihood, and severity of potential harms from learning the results of the testing has accumulated. I aim to provide an overview of the findings of this research by looking at selected systematic reviews. This will convey the gist of the literature's quality and coverage, reveal gaps in existing knowledge, and highlight promising areas for future scholarship.

Preferences for the provision of whole genome sequencing services among young adults.

OBJECTIVES: As whole genome sequencing (WGS) becomes increasingly available, clinicians will be faced with conveying complex information to individuals at different stages in life. The purpose of this study is to characterize the views of young adults toward obtaining WGS, learning different types of genomic information, and having choice about which results are disclosed. METHODS: A mixed-methods descriptive study was conducted with a diverse group of 18 and 19-years-olds (N = 145). Participants watched an informational video about WGS and then completed an online survey. RESULTS: Participants held a positive attitude toward obtaining WGS and learning about a range of health conditions and traits. Increased interest in learning WGS information was significantly associated with anticipated capacity to handle the emotional consequences if a serious risk was found (ß = 0.13, P = .04). Young adults wanted the ability to choose what types of genomic risk information would be returned and expressed decreased willingness to undergo WGS if clinicians made these decisions (t(138) = -7.14, P <.01). Qualitative analysis showed that young adults emphasized procedural factors in WGS decision-making and that perceived health benefits of WGS had a substantial role in testing preferences and anticipated usage of WGS results. CONCLUSIONS: Clinicians are likely to encounter enthusiasm for obtaining WGS results among young adults and may need to develop strategies for ensuring that this preference is adequately informed.

Young adults' attitudes toward pediatric whole-genome sequencing.

AIM: To characterize the views of young adults toward integrating whole-genome sequencing (WGS) into standard pediatric care, particularly when used as a supplement to newborn screening. MATERIALS & METHODS: This mixed methods descriptive study assessed the perspectives of a diverse group of 18- and 19-year olds (n = 145) in the USA using an informational video and online survey. RESULTS: Young adults typically recommended disclosing WGS results to both parents and children during childhood. In the qualitative analysis, most participants emphasized the anticipated health benefits of pediatric WGS, while a minority discussed possible negative emotional and developmental impacts. CONCLUSION: Differing preferences for pediatric WGS emphasize the importance that clinicians adopt responsive approaches when providing WGS and disclosing results to families.

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.

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.

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 (ß = 0.13, p<0.05), which predicted general attitudes towards testing (ß = 0.24, p<0.01). Consistent with our hypothesised model, attitudes towards testing were the strongest predictors of intentions to undergo testing (ß = 0.49, p<0.01), which in turn predicted testing uptake (OR 17.7, ß = 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.

Consumers' views of direct-to-consumer genetic information.

In this report, we describe the evolution and types of genetic information provided directly to consumers, discuss potential advantages and disadvantages of these products, and review research evaluating consumer responses to direct-to-consumer (DTC) genetic testing. The available evidence to date has focused on predictive tests and does not suggest that individuals, health care providers, or health care systems have been harmed by a DTC provision of genetic information. An understanding of consumer responses to susceptibility tests has lagged behind. The Multiplex Initiative is presented as a case study of research to understand consumers' responses to DTC susceptibility tests. Three priority areas are recommended for accelerated research activities to inform public policy regarding DTC genetic information: (a) exploring consumer's long-term responses to DTC genetic testing on a comprehensive set of outcomes, (b) evaluating optimal services to support decision making about genetic testing, and (c) evaluating best practices in promoting genetic competencies among health providers.

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 children's 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 children's 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 children's emotional states, self-perception, and social wellbeing.

Ethical and clinical practice considerations for genetic counselors related to direct-to-consumer marketing of genetic tests.

Several companies utilize direct-to-consumer (DTC) advertising for genetic tests and some, but not all, bypass clinician involvement by offering DTC purchase of the tests. This article examines how DTC marketing strategies may affect genetic counselors, using available cardiovascular disease susceptibility tests as an illustration. The interpretation of these tests is complex and includes consideration of clinical validity and utility, and the further complications of gene-environment interactions and pleiotropy. Although it is unclear to what extent genetic counselors will encounter clients who have been exposed to DTC marketing strategies, these strategies may influence genetic counseling interactions if they produce directed interest in specific tests and unrealistic expectations for the tests' capacity to predict disease. Often, a client's concern about risk for cardiovascular diseases is best addressed by established clinical tests and a family history assessment. Ethical dilemmas may arise for genetic counselors who consider whether to accept clients who request test interpretation or to order DTC-advertised tests that require a clinician's authorization. Genetic counselors' obligations to care for clients extend to interpreting DTC tests, although this obligation may be fulfilled by referral or consultation with specialists. Genetic counselors do not have an obligation to order DTC-advertised tests that have minimal clinical validity and utility at a client's request. This can be a justified restriction on autonomy based on consideration of risks to the client, the costs, and the implications for society.

The budding yeast rRNA and ribosome biosynthesis (RRB) regulon contains over 200 genes.

The ribosome biogenesis pathway constitutes one of the major metabolic obligations for a dividing yeast cell and it depends upon the activity of hundreds of gene products to produce the necessary rRNA and ribosomal protein components. Previously, we reported that a set of 65 S. cerevisiae genes that function in the rRNA biosynthesis pathway are transcriptionally co-regulated as cells pass through a variety of physiological transitions. By analysing multiple microarray-based transcriptional datasets, we have extended that study and now suggest that the ribosomal and rRNA biosynthesis regulon contains over 200 genes. This regulon is distinct from the set of ribosomal protein genes, and the promoters of the expanded RRB gene set are highly enriched for the PAC and RRPE motifs. Since a similar pattern of organization and gene regulation can be recognized in C. albicans, the RRB regulon appears to be a conserved, extensive, and metabolically important group of genes.