Psychiatric Genetic Testing Research Articles

Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe – A multi-professional survey study

Genetic research has identified a large number of genetic variants, both rare and common, underlying neurodevelopmental disorders (NDD) and major psychiatric disorders. Currently, these findings are being translated into clinical practice. However, there is a lack of knowledge and guidelines for psychiatric genetic testing (PsychGT) and genetic counseling (PsychGC). The European Union-funded COST action EnGagE (CA17130) network was started to investigate the current implementation status of PsychGT and PsychGC across 35 participating European countries. Here, we present the results of a pan-European online survey in which we gathered the opinions, knowledge, and practices of a self-selected sample of professionals involved/interested in the field.We received answers from 181 respondents. The three main occupational categories were genetic counselor (21.0%), clinical geneticist (24.9%), and researcher (25.4%). Of all 181 respondents, 106 provide GC for any psychiatric disorder or NDD, corresponding to 58.6% of the whole group ranging from 43.2% in Central Eastern Europe to 66.1% in Western Europe. Overall, 65.2% of the respondents reported that genetic testing is offered to individuals with NDD, and 26.5% indicated the same for individuals with major psychiatric disorders. Only 22.1% of the respondents indicated that they have guidelines for PsychGT. Pharmacogenetic testing actionable for psychiatric disorders was offered by 15%. Interestingly, when genetic tests are fully covered by national health insurance, more genetic testing is provided for individuals with NDD but not those with major psychiatric disorders.Our qualitative analyses of responses highlight the lack of guidelines and knowledge on utilizing and using genetic tests and education and training as the major obstacles to implementation. Indeed, the existence of psychiatric genetic training courses was confirmed by only 11.6% of respondents. The question on the relevance of up-to-date education and training in psychiatric genetics on everyday related practice was highly relevant.We provide evidence that PsychGC and PsychGT are already in use across European countries, but there is a lack of guidelines and education. Harmonization of practice and development of guidelines for genetic counseling, testing, and training professionals would improve equality and access to quality care for individuals with psychiatric disorders within Europe.

Investigating perceived heritability of mental health disorders and attitudes toward genetic testing in the United States, United Kingdom, and Australia.

Our beliefs about the heritability of psychiatric traits may influence how we respond to the use of genetic information in this area. In the present study, we aim to inform future education campaigns as well as genetic counseling interventions by exploring common fears and misunderstandings associated with learning about genetic predispositions for mental health disorders. We surveyed 3,646 genetic research participants from Australia, and 960 members of the public from the United Kingdom, and the United States, and evaluated attitudes toward psychiatric genetic testing. Participants were asked hypothetical questions about their interest in psychiatric genetic testing, perceived usefulness of psychiatric genetic testing, and beliefs about malleability of behavior, among others. We also asked them to estimate the heritability of alcohol dependence, schizophrenia, and major depression. We found a high interest in psychiatric genetic testing. In most cases, more than a third of the participants showed serious concerns related to learning about personal genetic predisposition, such as not wanting to have children if they knew they had a high genetic predisposition, or not wanting to choose a partner with a high genetic predisposition for a mental health problem. Finally, we found a significant association between most participants' attitudes and their lay estimates of heritability, which highlights the complexity of educating the public about genetics.

Psychosocial implications of living with familial risk of a psychiatric disorder and attitudes to psychiatric genetic testing: A systematic review of the literature

The aim of this systematic review was to synthesize the existing evidence documenting the psychosocial implications of living with a familial risk of an adult-onset psychiatric disorder. Six databases were searched systematically to identify qualitative and quantitative studies, which explored perspectives of those at increased risk for psychiatric disorders, as well as the general public. Thematic analysis was used to identify major themes. Thirty-five articles met the eligibility criteria and reported on the views of 4,896 participants. The literature demonstrates strong interest in psychiatric genetic testing of adults as well as children, whereas attitudes toward prenatal testing were much less positive. Predictors of interest in testing, as well as perceived advantages and disadvantages were identified. Very few studies are available on anticipated and actual reactions to receiving results. Studies show that the majority of participants feel that having a genetic explanation would alleviate some of the stigma associated with mental illness. This review shows that interest in, and predictors of attitudes toward, psychiatric genetic testing are well researched, but the extent to which attitudes will translate into actual testing uptake is unknown. Future research also needs to assess the actual behavioral and psychological impact of genetic testing.

Attitudes Toward Psychiatric Genetic Testing and Research: A Comparative Study Between Denmark and Cuba.

Introduction: Psychiatric genetic research has seen progress in identifying genetic risk variants associated with major mental disorders. Testing with preventive purposes is likely to be offered to high-risk individuals in the near future. It is important that genetic testing and counseling align with the interests of the patients, and these interests are likely to vary among countries and cultures. Aim: The present study aimed to compare the attitudes toward psychiatric genetic research and genetic testing in Denmark and Cuba. Materials and Methods: A survey, culturally adapted for each country, was administered to a pool of students, patients with depression, and the closest relatives of these patients. A total of 491 stakeholders from Denmark and 720 from Cuba were included in the study. Results: Significant differences between the two populations were found for general knowledge about psychiatric genetic research, whom to offer genetic testing, and to whom to entrust with psychiatric genetic information. Cuban stakeholders were more likely to feel uncomfortable about psychiatric genetic research than the Danish stakeholders. This difference might be driven by the characteristics of the health systems, sociocultural factors, and lower genetic literacy in the Cuban population. Conclusion: This study is the first to compare attitudes toward psychiatric genetic testing between a Latin American country and a Nordic country. The results reported could be valuable when designing general guidelines for psychiatric genetic testing in the future.

Attitudes toward the right to autonomous decision-making in psychiatric genetic testing: Controversial and context-dependent.

Recent breakthroughs in psychiatric genetics have identified genetic risk factors of yet unknown clinical value. A main ethical principal in the context of psychiatric research as well as future clinical genetic testing is the respect for a person's autonomy to decide whether to undergo genetic testing, and whom to grant access to genetic data. However, experience within the psychiatric genetic research setting has indicated controversies surrounding attitudes toward this ethical principal. This study aimed to explore attitudes concerning the right of individuals to self‐determine testing and disclosure of results, and to determine whether these attitudes are context‐dependent, that is, not directly related to the test result but rather to specific circumstances. N = 160 individuals with major depression or bipolar disorder and n = 29 relatives of individuals with either illness completed an online‐questionnaire assessing attitudes toward genetic testing, genetic research, disclosure of results, incidental findings, and access to psychiatric genetic test results. Generally, the right of the person's autonomy was considered very important, but attitudes varied. For example, half of those who considered that children should have the right to refuse psychiatric genetic testing even against their parents' will, also state that they should be tested upon their parents' wishes. Also, the majority of respondents considered the physician entitled to disregard their stated wishes concerning the disclosure of incidental findings in case of good treatment options. Thus, researchers and clinicians must be aware that attitudes toward psychiatric genetic testing are often mutable and should discuss these prior to testing.

Correction to: Predictive Psychiatric Genetic Testing in Minors: An Exploration of the Non-Medical Benefits.

The article [Title], written by [AuthorNames], was originally published electronically on the publisher's internet portal (currently SpringerLink) on [date of OnlineFirst publication] without open access.

Predictive Psychiatric Genetic Testing in Minors: An Exploration of the Non-Medical Benefits

Predictive genetic testing for susceptibility to psychiatric conditions is likely to become part of standard practice. Because the onset of most psychiatric diseases is in late adolescence or early adulthood, testing minors could lead to early identification that may prevent or delay the development of these disorders. However, due to their complex aetiology, psychiatric genetic testing does not provide the immediate medical benefits that current guidelines require for testing minors. While several authors have argued non-medical benefits may play a crucial role in favour of predictive testing for other conditions, little research has explored such a role in psychiatric disorders. This paper outlines the potential non-medical benefits and harms of psychiatric genetic testing in minors in order to consider whether the non-medical benefits could ever make such testing appropriate. Five non-medical themes arise in the literature: psychological impacts, autonomy/self-determination, implications of the biomedical approach, use of financial and intellectual resources, and discrimination. Non-medical benefits were prominent in all of them, suggesting that psychiatric genetic testing in minors may be appropriate in some circumstances. Further research needs to empirically assess these potential non-medical benefits, incorporate minors in the debate, and include normative reflection to evaluate the very purposes and motivations of psychiatric genetic testing in minors.

Anticipating the Ethical Challenges of Psychiatric Genetic Testing.

Genetic testing for mental illness is likely to become increasingly prevalent as the science behind it is refined. This article identifies anticipated ethical challenges for patients, psychiatrists, and genetic counselors and makes recommendations for addressing them. Many of the ethical challenges of psychiatric genetic testing are likely to stem from failures to comprehend the nature and implications of test results. Recent studies have identified gaps in the knowledge base of psychiatrists and genetic counselors, which limit their abilities to provide patients with appropriate education. A small number of studies have demonstrated the value of counseling in empowering patients to deal with relevant genetic information. Psychiatrists and other health professionals must be able to assist patients and families in making informed decisions about genetic testing and interpreting test results. Filling their knowledge gaps on these issues will be a critical step towards meeting these responsibilities.

Psychiatric Genomic Dilemmas In Adolescence

Advances in genetics, data analysis technologies, and the practice of precision medicine are slowly entering the field of psychiatry and raise hopes for better diagnosis, prevention, and treatment of psychiatric disorders. As genetic testing for predispositions to and diagnosis of psychiatric disorders is developed, children may be a particular target group. Studies indicate that parents desire to learn all about their children’s genetic make-up–primarily out of a sense of responsibility to care for their children but also due to curiosity–and that testing laboratories and pharmaceutical companies are already invested in marketing their products in this area. Use of genetic tests in children may be motivated further by the fact that many psychiatric conditions begin in childhood and adolescence, although the social, healthcare, and income costs associated with psychiatric disorders endure well beyond childhood.However, the prospect of psychiatric genetic testing of children, especially asymptomatic children in research settings, and return of secondary genomic findings to them and their families raise unique dilemmas. How should we balance parents’ informational interests and children’s right (not) to know? What should the response be to genetic results indicating predispositions to psychiatric conditions (e.g., schizophrenia, substance use disorders)? Should the answers to these questions turn on the availability of effective preventive measures? And who should decide?These challenges are exacerbated for adolescents (ages >13), who are legal minors but whose decision making capacity can often resemble that of adults. The unique characteristics of adolescence further pull the discussion in two conflicting directions. On the one hand, adolescents are engaged in a search for individual identity, in planning for the future, and in individuating from their families, which suggest the value of granting them greater control over decisions regarding genetic testing. On the other hand, adolescents often manifest greater impulsivity and tendencies to engage in risky behaviors and to be influenced by peer pressure, which suggest that their decision-making capacity may be compromised. This may have particular implications for psychiatry: studies suggest that the majority of teens with substance abuse issues began using drugs or alcohol as a result of peer pressure, and that the use of such substances increases the risk for other psychiatric conditions (e.g., schizophrenia). Whether adolescents would resist such pressures in light of psychiatric genetic testing results is unknown, but important to explore.This presentation will review existing studies relating to the psychiatric genetic testing of adolescents and consider the ethical and social challenges that arise, in particular: adolescents’ preferred decision-making roles; types of primary and secondary genomic findings to be returned; impact of psychiatric genetic knowledge on the adoption of prevention measures; and genomic privacy among family members. In addition, suggestions for future research will be considered.

Interest, rationale, and potential clinical applications of genetic testing for mood disorders: A survey of stakeholders

Bipolar disorder (BP) and major depressive disorder (MDD) are among the most severe, persistent, and debilitating illnesses occurring in young people, with an estimated lifetime prevalence of approximately 1-1.5% for BP (Kessler et al., 2005; Kato, 2007; Merikangas et al. 2007; Braff and Freedman, 2008) and 9.2–19.6% for MDD (Kessler et al., 2005; Vicente et al. 2006; Kao et al. 2011). Although genetic testing for psychiatric disorders has been the goal of psychiatrists and geneticists for years (Braff and Freedman, 2008) this goal has been difficult to attain since the impact of individual genes on risk for psychiatric illness is small, often nonspecific and embedded in intricate causal pathways (Kendler, 2005). In contrast to Mendelian disorders, tests for complex conditions such as MDD and BP may yield only weak estimates of risk, as such conditions appear to be caused by a complicated interplay of multiple genetic and environmental factors, and the associated genetic variants may be common and confer only a small increment of increased or decreased risk (Wright and Kroese, 2010). Major depressive disorder and BP clearly have an important genetic component (Trippitelli et al. 1998; Bienvenu et al., 2010), yet results from genetic testing research have been largely confusing and contradictory (Jordan and Tsai, 2010). However, recent progress in the identification of millions of genetic markers and in powerful detection technologies has made it feasible to perform large-scale association analyses that have enough statistical power to identify genes exerting a relatively minor effect on the likelihood of a particular ailment (Bienvenu et al., 2010; Jordan and Tsai, 2010). In the current DNA-centered mindset, genetic tests are often seen as the first step towards new therapies, and many patient groups are lobbying for their development in the belief that such testing can be helpful in selecting the best treatment (as may occasionally be the case) or in reassuring anxious parents (Jordan and Tsai, 2010). Companies involved in molecular diagnostics, a $20 billion market in the United States, strive to develop diagnostic kits and systems, (Jordan and Tsai, 2010). Tests claiming to indicate increased genetic risks for BP and antidepressant response are already available commercially from companies, such as 23andMe. Great hopes are attached to psychiatric genetics with the goal of both better treatment and prevention and the anticipated de-stigmatizing effect of attributing mental illness to biological causes (Smits et al., 2007; Braff and Freedman, 2008; Couzin, 2008; Laegsgaard et al., 2009; Hoop et al., 2010; Facio et al., 2011). For carriers of variants that influence risk, genetic testing provides the potential to improve outcomes through prevention, early detection, tailored medication, and a better-quality basis for making reproductive decisions (Meiser et al., 2008). Studies have found positive attitudes towards predictive genetic testing for predisposition to psychiatric disorders among various stakeholders. These stakeholders have included: people with an unspecified psychiatric diagnosis (Laegsgaard and Mors, 2008), individuals affected by BP (Trippitelli et al., 1998; Laegsgaard et al., 2009) or MDD (Laegsgaard et al., 2009), people with multiple relatives affected by BP (Jones et al., 2002; Meiser et al., 2005, 2008), psychiatrists (Jones et al., 2002; Hoop et al., 2010), psychology students (Laegsgaard and Mors, 2008), and the general public (Wilde et al., 2010). This interest in psychiatric genetic testing seems to remain even without available preventative treatment options (Laegsgaard and Mors, 2008, 2009) and even if results offer only a probabilistic rather than definitive risk (Wilde et al., 2010). In spite of the positive attitudes toward genetic testing for mood disorders demonstrated by these studies, key related topics have not been explored in depth. There is limited research examining: specific reasons why individuals are interested in genetic tests for mood disorders (Trippitelli et al., 1998; Mesier et al., 2008; Wilhelm et al., 2009), how the level of test predictability affects interest in genetic testing for mood disorders, and the preferred manner to receive genetic test results for mood disorders (Wilde et al., 2010; Borry et al., 2010). This study explored these issues with individuals with a personal and/or family history of mood disorders as well as individuals with no personal or family history of mood disorders. The study examined potential reasons why stakeholders might be interested in genetic testing for risk of mood disorders, how predictive value affects level of interest in testing and preferences for the best manner to receive test results. It also hopes to add further insights to the ongoing debate about the potential impact of genetic attribution on the stigma associated with mental illness (Mechanic et al., 1994; Meiser et al., 2007; Laegsgaard and Mors, 2008; Meiser et al., 2008; Wilde et al., 2010).

Knowledge and Attitudes about Personalized Mental Health Genomics: Narratives from Individuals Coping with Serious Mental Illness

The present qualitative study examined the personal accounts, elicited via semi-structured interview, of nine United States military veterans with serious mental illness to describe their knowledge, attitudes, and beliefs about psychiatric genetics, genetic testing and counseling for mental illness. The aim of the research was to elucidate issues from the perspective of adults with mental illness that may inform the education and training of mental health providers on basic genetic counseling. Findings suggest that participants had some basic knowledge about genetics, were interested in psychiatric genetic testing, and had an awareness of both positive and negative aspects of genetic test results. Participants tended to have overly optimistic ideas about current advances in psychiatric genetics and were motivated to undergo genetic testing for the good of their families and to benefit society. Implications of findings for research and practice are discussed.

The perceived and predicted implications of psychiatric genetic knowledge among persons with multiple cases of depression in the family

Psychiatric genetic research raises hope regarding better treatment and prevention, but also regarding a possible de-stigmatizing effect of attributing mental illness to genetics. This study explores i) the impact on family relations of participating in a genetic study; ii) the impact of biogenetic attributions on perceptions of depression and stigma and iii) the perceived benefits and concerns regarding psychiatric genetic testing. Focus groups were conducted with 17 participants suffering from depression, with multiple cases of depression in the family, and previously participating in a genetic study. Participating in a genetic study caused more openness about depression in most families. A biogenetic explanation of depression was perceived as having the potential of diminishing self stigma. Testing of self and children was widely accepted, whereas prenatal testing raised concern. Persons suffering from depression may benefit from endorsing a biogenetic explanation, especially in relation to self-understanding and self-stigma.

Potential Consumers' Attitudes Toward Psychiatric Genetic Research and Testing and Factors Influencing Their Intentions to Test

Psychiatric genetic research brings on the possibility of psychiatric genetic testing. The optimal and responsible utilization of genetic testing depends on knowledge of the potential consumers' attitudes and expectations regarding testing. The aim of this study was to assess potential consumers' attitudes and expectations toward psychiatric genetics and factors influencing their intentions to test. A questionnaire constructed to assess attitudes and intentions toward psychiatric genetic testing was mailed or given in person to individuals participating in different genetic studies aiming at identifying genes predisposing for mental illness. A total of 397 persons diagnosed with major depression, bipolar disorder, schizophrenia, or anxiety disorder participated in the survey. A large majority of the sample expressed an intention for themselves and their children to participate in psychiatric genetic testing. Support for prenatal testing was considerably less strong. A large minority expressed intention to test regardless of treatment possibilities. Intentions to test were positively associated with being a parent, trust in researchers, and expecting to feel better prepared for fighting the disorder when knowing of the presence of risk genes. Intentions were negatively associated with the fear of psychiatric genetic research bringing on too many difficult choices and fearing not to be able to cope with the results of a psychiatric genetic test. These results indicate that psychiatric genetic testing is not just perceived as a way to better treatment. Other expectations may motivate testing even though the clinical validity of the test is poor.

Potential Consumers' Attitudes Toward Psychiatric Genetic Research and Testing and Factors Influencing Their Intentions to Test

Potential Consumers' Attitudes Toward Psychiatric Genetic Research and Testing and Factors Influencing Their Intentions to Test

Psychiatric genetic testing: Attitudes and intentions among future users and providers

Psychiatric genetic research may eventually render possible psychiatric genetic testing. Whereas all genetic knowledge has certain characteristics raising ethical, legal, and social issues, psychiatric genetic knowledge adds more controversial issues. Ethical principles have been proposed as a guide in this field, but the optimal utilization of genetic testing has also been recognized to depend on knowledge of the potential consumers' attitudes. To provide knowledge to inform the public debate on mental illness and genetics, and the future conducting of psychiatric genetic testing and counseling, we surveyed attitudes toward psychiatric genetic testing among 397 patients with a psychiatric diagnosis, 164 of their relatives and 100 medical and psychology students. The results showed widespread interest in psychiatric genetic testing of self and child, but less support for prenatal testing. Psychiatric and somatic genetic testing attracted the same amounts of accept. General attitudes toward access to psychiatric genetic testing and information revealed substantial support for bioethical principles of autonomy and privacy. However, questions describing more specific situations revealed contradictions mirroring the bioethical dilemmas recognized in the field and variations in attitudes between groups with different levels of knowledge of genetics, different kinds of experience with mental illness, and different motives and preconceptions regarding psychiatric genetics. The contradictions and differences in attitudes among possible future users and providers of psychiatric genetic testing and counseling indicate ambivalence, insecurity, and perceived lack of knowledge in relation to psychiatric genetics. These results should inform further research and the future integration of psychiatric genetics into practice.

Einstellung zu genetischen Untersuchungen auf Alzheimer-Demenz

Most neuropsychiatric disorders have a complex aetiology. Discovery of the underlying genetics will provide insights into the disorders and allow the subsequent development of therapeutic interventions based upon an understanding of causality. The first vulnerability genes in Alzheimer's disease (AD) have been identified. The contribution of each vulnerability gene to the disorder is limited and does not enable prediction of course and onset in individual cases, only modification of the a priori risk. However, people may wish to be informed about this modification. Professionals have not favoured this form of predictive testing due to an awareness of its limitations and its potential for harm. However, little is known about public attitudes and understanding of such genetic testing in neuropsychiatric disorders. The aim of our study was to assess the attitudes of the general population and to explore the influence on these attitudes of knowledge about the illness and the understanding of risk information. In our study, a representative sample of the German general population (n=2001), relatives of patients with Alzheimer's disease (n=101) and physicians (n=43) were interviewed about their attitudes towards genetic tests for Alzheimer's disease and their perception and interpretation of risk information. To assess the influence of genetic counselling on these factors, 234 people were questioned before, and four weeks after, they were provided with detailed relevant information. Our results indicate that a substantial proportion of the German population (57%) is in favour of psychiatric genetic testing for AD in general. Even when the explanatory power of a genetic test is limited, a substantial proportion of the population (47%) expressed an interest in genetic testing. Counselling slightly decreased the interest in having a genetic test for oneself (from 47% to 38%). Physicians were more hesitant than both relatives and the general population concerning predictive genetic testing. Only a minority (11%) favoured prenatal genetic testing. Our results also show that both knowledge about AD and the capacity to interpret risk estimates are limited. While physicians' estimation of their personal risk for developing AD approximated to the actual average risk for the population, people in the general population and the relatives of AD patients tended to overestimate their personal risk. However, most of the general population still perceived this risk as average or low. While most physicians could correctly interpret information regarding the probability of risk, only one third of AD patients' relatives or members of the general population could. As the decision of an individual to undergo predictive testing relies mainly on his understanding of risk, the ability to correctly interpret risk information will be of crucial importance in the future. From a medical perspective, the prevailing approach of professional associations to genetic testing appears reasonable and therefore should not be changed at present.