Attitudes toward genetic testing in patients at risk for HNPCC/FAP and the German population

Adequate knowledge regarding hereditary diseases and genetics, as well as personal attitudes toward gene tests, are major determinants of optimal utilization of genetic testing. In the present study, we aimed to explore the general attitudes toward genetic testing in a sample representative of the German general population (n = 2,076) and to compare the attitudes of persons at risk for hereditary non-polyposis colorectal cancer/familial adenomatous polyposis (HNPCC/FAP) (n = 36) who had attended a university genetic counseling service, with a matched general population sample. We administered a subset of a questionnaire previously used in a Finnish study (Jallinoja et al., 1998). The 12 statements pertain to approval, disapproval, and concern for genetic testing. Overall, the results reveal high approval of genetic testing in the German population and in at-risk persons. In accordance with other studies, we find that the attitudes of individuals for whom hereditary disease is a salient issue of personal relevance and the attitudes of the general public are very similar. Only a few significant differences between these two samples emerged, indicating that at-risk persons hold a more favourable view of the testing. One intriguing finding was the high rate of "don't know" responses, especially in the general population sample. Compared to results from Finland, approval of genetic testing is lower in the German population, and endorsement of "don't knows" is remarkably higher. We argue for increased attention to the issue of attitude change after genetic counseling and for the need of comparative cross-cultural research on attitudes toward gene technology.     

Autobiologies on YouTube: narratives of direct-to-consumer genetic testing

Despite a growing personal genomics market, little is known about how people engage with the possibilities offered by direct-to-consumer (DTC) genetic testing. In order to help address this gap, this study deploys narrative analysis of YouTube videos posted by individuals who have purchased DTC genetic testing for disease. Genetic testing is said to be contributing to new states of illness, where individuals may become “patients-in-waiting.” In the videos analyzed, we found a new form of storytelling about this ambiguous state of illness, which we refer to as autobiology. Autobiology – the study of, and story about, one's own biology – concerns narratives of sense-making through forms of biological practice, as well as wayfaring narratives which interweave genetic markers and family histories of disease. These autobiologies – part of a broader shift toward public stories about genetics and other healthcare technologies – exhibit playfulness, as well as being bound with consumerist practices.     

Overweight People Have Low Levels of Implicit Weight Bias,but Overweight Nations Have High Levels of Implicit Weight Bias

Although a greater degree of personal obesity is associated with weaker negativity toward overweight people on both explicit (i.e., self-report) and implicit (i.e., indirect behavioral) measures, overweight people still prefer thin people on average. We investigated whether the national and cultural context – particularly the national prevalence of obesity – predicts attitudes toward overweight people independent of personal identity and weight status. Data were collected from a total sample of 338,121 citizens from 71 nations in 22 different languages on the Project Implicit website (https://implicit.harvard.edu/) between May 2006 and October 2010. We investigated the relationship of the explicit and implicit weight bias with the obesity both at the individual (i.e., across individuals) and national (i.e., across nations) level. Explicit weight bias was assessed with self-reported preference between overweight and thin people; implicit weight bias was measured with the Implicit Association Test (IAT). The national estimates of explicit and implicit weight bias were obtained by averaging the individual scores for each nation. Obesity at the individual level was defined as Body Mass Index (BMI) scores, whereas obesity at the national level was defined as three national weight indicators (national BMI, national percentage of overweight and underweight people) obtained from publicly available databases. Across individuals, greater degree of obesity was associated with weaker implicit negativity toward overweight people compared to thin people. Across nations, in contrast, a greater degree of national obesity was associated with stronger implicit negativity toward overweight people compared to thin people. This result indicates a different relationship between obesity and implicit weight bias at the individual and national levels.     

Genetic testing for disease susceptibilities: consequences for genetic counseling

The role of genetic counseling in future testing for inherited susceptibilities for common diseases is debated. Currently, genetic testing, ideally supported by genetic counseling, is most often used to modify the assessment of genetic risk of Mendelian-inherited disease in high-risk individuals for the purpose of personal decision-making. By contrast, it is anticipated that genetic testing will be used to identify increased disease susceptibility in low-risk individuals for the purpose of instituting medical or lifestyle interventions to modify risk for future disease.     

Informed Consent in Direct‐to‐Consumer Personal Genome Testing: The Outline of A Model between Specific and Generic Consent

Broad genome‐wide testing is increasingly finding its way to the public through the online direct‐to‐consumer marketing of so‐called personal genome tests. Personal genome tests estimate genetic susceptibilities to multiple diseases and other phenotypic traits simultaneously. Providers commonly make use of Terms of Service agreements rather than informed consent procedures. However, to protect consumers from the potential physical, psychological and social harms associated with personal genome testing and to promote autonomous decision‐making with regard to the testing offer, we argue that current practices of information provision are insufficient and that there is a place – and a need – for informed consent in personal genome testing, also when it is offered commercially. The increasing quantity, complexity and diversity of most testing offers, however, pose challenges for information provision and informed consent. Both specific and generic models for informed consent fail to meet its moral aims when applied to personal genome testing. Consumers should be enabled to know the limitations, risks and implications of personal genome testing and should be given control over the genetic information they do or do not wish to obtain. We present the outline of a new model for informed consent which can meet both the norm of providing sufficient information and the norm of providing understandable information. The model can be used for personal genome testing, but will also be applicable to other, future forms of broad genetic testing or screening in commercial and clinical settings.     

Knowledge and attitudes regarding genetic testing among Jordanians: An approach towards genomic medicine

BackgroundThe twenty first century can be called the genomic era referring to the rapid development of genetics, and the beginning of genomic medicine. An initial step towards genomic medicine is to evaluate the knowledge and attitude towards genetic testing among different populations. The aims of this study were to assess the genetic knowledge and attitude towards genetic testing among the Jordanian population and patients with immune diseases. In addition, we evaluated the association between knowledge, attitude and several demographic factors of the population.MethodsThis study was performed using an online questionnaire that was distributed to respondents from different regions of Jordan.ResultsA total of 1149 participants were recruited from the Jordanian population. Overall factual genetic knowledge of the participants was good (65.4%), with education level, working or studying in a health-related field and household average monthly income being significant predictors of factual knowledge scores (P = 0.03, P < 0.001 and P < 0.001, respectively). However, factual knowledge results revealed that scores of questions related to diseases were significantly higher than scores of gene-related scientific facts (P < 0.01). Participants of our study reported to have low perceived knowledge on medical uses (39.5%) and social consequences (23.9%) of genetic testing. Regarding the participants’ attitudes, favorable attitudes towards genetic testing were prevailing (91.5%). Favorable attitudes were more prominent among higher educated participants, and participants with higher scores of factual knowledge.ConclusionDespite the fact that our Jordanian-based study revealed a good level of genetic knowledge as well as a favorable attitude towards genetic testing, we realized an imbalance of knowledge between gene-related scientific facts and disease-related concepts as well as between factual and perceived genetic knowledge, which indicates the necessity of increasing the awareness about genetic testing in order to ensure that individuals can take informed decisions that help in the employment of personalized medicine.     

Public attitudes toward genetic testing: perceived benefits and objections

The aim of this study was to assess public attitudes toward the availability and use of genetic tests to explore support for genomics developments and to help improve public discussion. Questionnaires to assess the assumed advantages and disadvantages of genetic testing were sent to a representative sample of the Dutch population (n = 1,308; age > or =25 years). The response was 63% (817/1,308). Two groups with extreme scores on a four-item scale were distinguished, representing opponents (n = 248) and supporters (n = 264) of the availability and use of genetic tests. Multiple logistic regression analyses showed that those who were familiar with a genetic disease (odds ratio [OR] 0.54; 95% confidence interval [CI] 0.32-0.89; p = 0.015), those who scored higher on a four-item scale on belief in personal benefits of testing (OR 0.29; 95% CI 0.21-0.40; p < 0.0001), and those who believe that knowledge of the genetic background of disease will help people to live more healthy lives (OR 0.48; 95% CI 0.37-0.62; p < 0.0001), were less likely to be opponents. Those who agreed that genetic testing is tampering with nature (OR 1.63; 95% CI 1.32-2.00; p < 0.0001) were more likely to be opponents. Other variables such as belief in genetic determinism, genetic knowledge, level of education, age, and gender were not significantly associated. These results suggest that in addition to moral acceptability, perceived usefulness is a precondition for supporting genetic testing. It is not expected that more information will necessarily result in more positive attitudes.     

Decision-Making under Ambiguity Is Modulated by Visual Framing,but Not by Motor vs. Non-Motor Context. Experiments and an Information-Theoretic Ambiguity Model

A number of recent studies have investigated differences in human choice behavior depending on task framing, especially comparing economic decision-making to choice behavior in equivalent sensorimotor tasks. Here we test whether decision-making under ambiguity exhibits effects of task framing in motor vs. non-motor context. In a first experiment, we designed an experience-based urn task with varying degrees of ambiguity and an equivalent motor task where subjects chose between hitting partially occluded targets. In a second experiment, we controlled for the different stimulus design in the two tasks by introducing an urn task with bar stimuli matching those in the motor task. We found ambiguity attitudes to be mainly influenced by stimulus design. In particular, we found that the same subjects tended to be ambiguity-preferring when choosing between ambiguous bar stimuli, but ambiguity-avoiding when choosing between ambiguous urn sample stimuli. In contrast, subjects’ choice pattern was not affected by changing from a target hitting task to a non-motor context when keeping the stimulus design unchanged. In both tasks subjects’ choice behavior was continuously modulated by the degree of ambiguity. We show that this modulation of behavior can be explained by an information-theoretic model of ambiguity that generalizes Bayes-optimal decision-making by combining Bayesian inference with robust decision-making under model uncertainty. Our results demonstrate the benefits of information-theoretic models of decision-making under varying degrees of ambiguity for a given context, but also demonstrate the sensitivity of ambiguity attitudes across contexts that theoretical models struggle to explain.     

Differences between African Americans and Whites in their attitudes toward genetic testing for Alzheimer's disease

The possibility of predictive genetic testing for Alzheimer's disease (AD) has prompted examination of public attitudes toward this controversial new health-care option. This is the first study to examine differences between Whites and African Americans with regard to: (1) interest in pursuing genetic testing for AD, (2) reasons for pursuing testing, (3) anticipated consequences of testing, and (4) beliefs about testing. We surveyed a convenience sample of 452 adults (61% white; 39% African American; 78% female; mean age = 47 years; 33% with family history of AD). Both racial groups indicated general interest in predictive genetic testing for AD, viewed it as having many potential benefits, and believed it should be offered with few restrictions. However, in comparison to whites, African Americans showed less interest in testing (p < 0.01), endorsed fewer reasons for pursuing it (p < 0.01), and anticipated fewer negative consequences from a positive test result (p < 0.001). These preliminary findings show important distinctions between whites and African Americans in their attitudes toward genetic testing for AD. These differences may have implications for how different racial and ethnic groups will respond to genetic testing programs and how such services should be designed. Future research in real-life testing situations with more representative samples will be necessary to confirm these racial and cultural differences in perceptions of genetic testing.     

Carrier testing of children for two X-linked diseases: a retrospective evaluation of experience and satisfaction of subjects and their mothers

Carrier testing of children for inherited disease that will not affect the health of the children themselves but of their future children is generally regarded as problematic. In this retrospective study, we determined how young women had experienced genetic carrier testing when they were children. The families of 66 young females who had been tested for carriership during childhood between 1984 and 1988, were approached. Of them, 23 young females in families affected by Duchenne muscular dystrophy, and 23 young females in families affected by hemophilia A, and their mothers, participated in our study. We used a questionnaire including multiple-choice and open-ended questions. We recorded general attitudes to testing, satisfaction with testing, degree of trust in test results, making decisions regarding testing, privacy, and opinions about age at testing. Thirty-five out of 46 of the young women tested (76%) were satisfied with carrier testing in childhood. However, the young women in whom the test results had been uncertain were statistically more often unsatisfied with the testing than those who had been found or not found to be carriers (p = 0.002). In each group, the opinions of mothers were parallel to those of their daughters. Seventy-eight percent of daughters regarded carrier testing as a family matter in which parents can make a decision. About half of those tested recalled that they had been allowed to participate in decision-making in a satisfying way. Thirty-nine out of 46 (85%) of the young women tested, and 33/46 (72%) of the mothers, suggested that carrier testing should be performed in childhood or during teenage years.     

"They want to know where they came from": population genetics, identity, and family genealogy

This paper discusses the changing relationship between population genetics, family genealogy and identity. It reports on empirical research with participants in a genetic study who anticipated that personal feedback on the analysis of their donated samples would elucidate aspects of their own family genealogies. The paper also documents how geneticists, building on the practices of offering personal feedback to research participants, have developed genetic tests marketed directly to people wishing to trace their ancestry. Some of the social and ethical issues raised by this development in the use of genetic testing are considered.     

Regional differences in awareness and attitudes regarding genetic testing for disease risk and ancestry

Little is known about the lay public’s awareness and attitudes concerning genetic testing and what factors influence their perspectives. The existing literature focuses mainly on ethnic and socioeconomic differences; however, here we focus on how awareness and attitudes regarding genetic testing differ by geographical regions in the US. We compared awareness and attitudes concerning genetic testing for disease risk and ancestry among 452 adults (41% Black and 67% female) in four major US cities, Norman, OK; Cincinnati, OH; Harlem, NY; and Washington, DC; prior to their participation in genetic ancestry testing. The OK participants reported more detail about their personal ancestries (p = 0.02) and valued ancestry testing over disease testing more than all other sites (p < 0.01). The NY participants were more likely than other sites to seek genetic testing for disease (p = 0.01) and to see benefit in finding out more about one’s ancestry (p = 0.02), while the DC participants reported reading and hearing more about genetic testing for African ancestry than all other sites (p < 0.01). These site differences were not better accounted for by sex, age, education, self-reported ethnicity, religion, or previous experience with genetic testing/counseling. Regional differences in awareness and attitudes transcend traditional demographic predictors, such as ethnicity, age and education. Local sociocultural factors, more than ethnicity and socioeconomic status, may influence the public’s awareness and belief systems, particularly with respect to genetics.     

Genetic counseling for sex chromosome anomalies (SCAs) in Israel and Germany: assessing medical risks according to the importance of fertility in two cultures

In this article, I report findings from a comparative study of Israeli and German genetic counselors. Specifically, it concerns counselors' attitudes and risk assessments relating to prenatal diagnosis of sex chromosome anomalies (SCAs) such as Klinefelter and Turner syndromes. Data collected through in-depth interviews with counselors in both countries (N = 32) are presented, and the types of claims experts deploy in their personal and professional estimation of the risks involved in SCAs are analyzed. The article concludes by suggesting that the counselors rhetoric concerning SCAs, whose major manifestation is the future infertility of the unborn child as well as their estimations of the related risks, should be situated in a broader cultural context, that of local Israeli and German understandings of the importance of fertility, and not in their professional nondirective ethos. Hence, to understand the practice of genetic counselors in two late-modern societies, one must understand the unique relationship between the individual bodies of pregnant women and the body politics of their nations, a relationship mediated by the counselors, who are the bearers of knowledge and expertise in this field.     

Opinion survey of the Hong Kong general public regarding genomic science and technology and their ethical and social implications

The study's objective is to survey the attitudes of Chinese people living in Hong Kong toward genomic science and technology (GST) and their ethical and social implications. Using a 24-item questionnaire, 877 Cantonese-speaking residents between age 18 and 64 with minimum high school education are interviewed by telephone. Multiple regression analysis identifies education level as the most important demographic variable. Overall, respondents have mild agreement with genetic determinism and the use of GST for disease prevention but not for non-therapeutic genetic enhancement and production of “genetically modified” crops or meat. Respondents strongly believe that GST tampers with nature and resources should be used to solve other healthcare problems first. Respondents also show little concern that personal genetic information may be abused by their employers or schools and have only a minimal willingness to share personal genetic information with their family members.     

“They want to know where they came from”: population genetics,identity, and family genealogy

This paper discusses the changing relationship between population genetics, family genealogy and identity. It reports on empirical research with participants in a genetic study who anticipated that personal feedback on the analysis of their donated samples would elucidate aspects of their own family genealogies. The paper also documents how geneticists, building on the practices of offering personal feedback to research participants, have developed genetic tests marketed directly to people wishing to trace their ancestry. Some of the social and ethical issues raised by this development in the use of genetic testing are considered.     

Epistasis and Its Implications for Personal Genetics

The widespread availability of high-throughput genotyping technology has opened the door to the era of personal genetics, which brings to consumers the promise of using genetic variations to predict individual susceptibility to common diseases. Despite easy access to commercial personal genetics services, our knowledge of the genetic architecture of common diseases is still very limited and has not yet fulfilled the promise of accurately predicting most people at risk. This is partly because of the complexity of the mapping relationship between genotype and phenotype that is a consequence of epistasis (gene-gene interaction) and other phenomena such as gene-environment interaction and locus heterogeneity. Unfortunately, these aspects of genetic architecture have not been addressed in most of the genetic association studies that provide the knowledge base for interpreting large-scale genetic association results. We provide here an introductory review of how epistasis can affect human health and disease and how it can be detected in population-based studies. We provide some thoughts on the implications of epistasis for personal genetics and some recommendations for improving personal genetics in light of this complexity.     

Simultaneous interdisciplinary counseling in German breast/ovarian cancer families: first experiences with patient perceptions, surveillance behavior and acceptance of genetic testing

As part of a multicenter study supported by the German Mildred Scheel foundation we have established an interdisciplinary counseling setting for members of breast and/or ovarian cancer families. We offer simultaneous counseling by a team consisting of a geneticist, a gynecologist and a psycho-oncologist. Here we describe our counseling protocol and our first short-term experience with this interdisciplinary approach. Preliminary data on patient perceptions and behaviors in the context of DNA testing are reported. Overall, our counseling approach was perceived as beneficial both by the counselors and the consultants. A marked overestimation of the risk to develop breast and/or ovarian cancer was noted in the group of unaffected individuals from medium to low risk breast cancer families in contrast to an appropriate risk perception in members from high risk families. All participants shared many of the same expectations about genetic testing and counseling and appeared to base their decision-making about testing on the risk classification given by the genetic counselor. The reported participation in gynecological cancer prevention programs was high in all families at risk, but was less sufficient in unaffected as compared to affected persons. Although current data on BRCA1/BRCA2 mutation analyses render testing in medium to low risk individuals questionable, our findings emphasize the importance of genetic counseling and education in all risk categories of breast and/or ovarian cancer families.     

Society and ethics - the genetics of disease

Established guidance for the protection of human subjects in research has provided the framework for research and clinical practice in genetics. Three key principles to emerge are the requirements for consent, privacy and confidentiality. However, recent research on genetic susceptibility to common diseases indicates that it may be more difficult to decide if and when genetic testing will be appropriate. Risks of disease may be low and interventions may not be available. Today, debate is primarily focussed on ethical issues raised by the use and storage of genetic information. One of the earliest experiences of genetic testing for some people is likely to be in the area of pharmacogenetics. Debate about ethical issues has been focused on the implications of patient stratification, particularly with regard to the availability of medicines for small groups and the significance of racial variation in response to medicines. The possible use of personal genetic information by insurance companies and employers has also been an issue that legislators have taken seriously.     

Controlling futures? Online Genetic Testing and Neurodegenerative Disease

Online personalized genetic testing services offer accessible and convenient options for satisfying personal curiosity about health and obtaining answers about one’s genetic provenance. They are especially attractive to healthy people who wish to learn about their future risk of disease, as Paul Mason’s (2017) case study of “Jordan” illustrates. In this response, we consider how online genetic testing services are used by people diagnosed with a common neurodegenerative disease, Parkinson’s disease, to gain a sense of certainty regarding the future.     

Nationalism,nation and territory: Jacint Verdaguer and the Catalan Renaixença

This paper seeks to explain the historic importance to Catalan nationalism of the nineteenth-century poet and priest, Jacint Verdaguer. In order to do so, rather than focus on his contribution – and that of the wider cultural revival, the Renaixença – to the development of the Catalan language as the basis for national political mobilization, this paper argues that we cannot fully understand Verdaguer's importance without reference to his role in constructing a geographical narrative linking nation and territory. At the same time, given that national meanings are always contested, the paper proposes a dialectical approach to nationalism that situates the work of writers within the context of power struggles between social groups. Consequently, Veradguer's centrality to Catalan nationalism is ultimately explained by his role in producing a geographical narrative capable of attracting important sectors of rural Catalonia to the hegemonic project of the industrial bourgeoisie.