The effectiveness of psychiatric genetic counseling training: An analysis of 13 international workshops.

Studies have consistently shown that psychiatric genetic counseling (pGC) helps people with psychiatric conditions by increasing empowerment and self-efficacy, and addressing emotions like guilt. Yet, it is not routinely provided. Genetic counselors and trainees express low confidence in their ability to provide meaningful pGC, especially in the absence of adequate training. Therefore, to address this gap a "Psychiatric Genetic Counseling for Genetic Counselors" (PG4GC) workshop was developed and delivered to 13 groups of participants (primarily qualified genetic counselors and trainees) between 2015 and 2023 (10 workshops were delivered in-person, and three virtually). Participants completed quantitative questionnaires both before and after completing the workshop to assess their comfort, knowledge, behavior, and feeling of being equipped to provide pGC. In total, 232 individuals completed the pre-workshop questionnaire and 154 completed the post-workshop questionnaire. Participants felt more comfortable, knowledgeable, and equipped to provide pGC, and reported being more likely to address psychiatric concerns after the workshop, regardless of whether they were trainees or practicing professionals and whether they completed the workshop in-person or virtually. This study suggests that the PG4GC workshop is an effective educational tool in pGC training that may aid in broader implementation of the service.

A New Intervention for Implementation of Pharmacogenetics in Psychiatry: A Description of the PSY-PGx Clinical Study.

(1) Background Pharmacological treatment for psychiatric disorders has shown to only be effective in about one-third of patients, as it is associated with frequent treatment failure, often because of side effects, and a long process of trial-and-error pharmacotherapy until an effective and tolerable treatment is found. This notion emphasizes the urgency for a personalized medicine approach in psychiatry. (2) Methods This prospective patient- and rater-blinded, randomized, controlled study will investigate the effect of dose-adjustment of antidepressants escitalopram and sertraline or antipsychotics risperidone and aripiprazole according to the latest state-of-the-art international dosing recommendations for CYP2C19 and CYP2D6 metabolizer status in patients with mood, anxiety, and psychotic disorders. A total sample of N = 2500 will be recruited at nine sites in seven countries (expected drop-out rate of 30%). Patients will be randomized to a pharmacogenetic group or a dosing-as-usual group and treated over a 24-week period with four study visits. The primary outcome is personal recovery using the Recovery Assessment Scale as assessed by the patient (RAS-DS), with secondary outcomes including clinical effects (response or symptomatic remission), side effects, general well-being, digital phenotyping, and psychosocial functioning. (3) Conclusions This is, to our knowledge, the first international, multi-center, non-industry-sponsored randomized controlled trial (RCT) that may provide insights into the effectiveness and utility of implementing pharmacogenetic-guided treatment of psychiatric disorders, and as such, results will be incorporated in already available dosing guidelines.

Assessment highlights need for improvement in standards of development of core outcome sets for rare genetic diseases.

OBJECTIVES: A rare disease is classified as such if it affects less than one person in 2,000. The Core Outcome Set STandards for Development (COS-STAD) is a set of standards that represent the minimum recommendations to be considered in the process of core outcome set (COS) development. The aim of this study was to provide a baseline assessment of COS development standards for rare genetic diseases. STUDY DESIGN AND SETTING: Core Outcome Measures in Effectiveness Trials (COMET) database contains nearly 400 published COS studies according to the latest systematic review. Studies focusing on COS development for rare genetic diseases were eligible for inclusion and were assessed by two independent evaluators. RESULTS: Nine COS studies were included in the analysis. Eight different rare genetic diseases were investigated. None of the studies met all the standards for development. The number of standards met ranged from 6 to 10, and the median was 7. CONCLUSION: This study is the first study to assess COS-STAD for rare genetic diseases, and it highlights a great need for improvement. First in terms of numbers of rare diseases considered for COS developments, second in methodology, particularly regarding the consensus process, and third in reporting of the COS development studies.

An European overview of genetic counselling supervision provision.

Genetic testing is becoming more commonplace in general and specialist health care, and should always be accompanied by genetic counselling, according to legislation in many European countries and recommendations by professional bodies. Personal and professional competence is necessary to provide safe and effective genetic counselling. Clinical and counselling supervision of genetics healthcare practitioners plays a key role in quality assurance, providing a safe environment not only for patients but for professionals too. However, in many European countries, genetic counsellors are still an emerging professional group and counselling supervision is not routinely offered and there are no enough evidences on the impact of these insufficiencies. This study aimed to explore the current status of genetic counselling supervision provision across Europe and to ascertain factors that might be relevant for the successful implementation of counselling supervision. A total of 100 practitioners responded to an online survey; respondents were from 18 countries, with the majority working in France (27%) and Spain (17%). Only 34 participants reported having access to genetic counselling supervision. Country of origin, the existence of a regulation system and years of experience were factors identified as relevant, influencing access and characteristics of counselling supervision. Although there is a growing number of genetic counsellors trained at European level, just a few countries have implemented and required as mandatory the access to genetic counselling supervision. Nevertheless, this is essential to ensure a safe and effective genetic counselling and should be regulated at the European genetic healthcare services.

The impact of psychiatric disorders on caregivers: An integrative predictive model of burden, stigma, and well-being.

PURPOSE: The study investigates the predictors of caregivers' experienced burden, stigma, and well-being, when looking after family members diagnosed with a psychiatric disorder. DESIGN AND METHODS: This cross-sectional study included 168 caregivers; perceived burden, stigma, well-being, knowledge, illness perception, and medical variables were assessed. FINDINGS: A number of correlates of burden, stigma, and well-being have been identified and are being discussed. The integrative predictive model showed that the caregiver's emotional representation of illness best predicts burden (ß = 0.38, p < 0.001), stigma (ß = 0.53, p < 0.001) and well-being (ß = -0.36, p < 0.001). PRACTICE IMPLICATIONS: Our results can enable health professionals to tailor psychosocial interventions addressed to family members of individuals living with a psychiatric condition.

Families with complex needs: an inside perspective from young people, their carers, and healthcare providers.

Complex health needs are demanding and often require additional medical, psychological and social support. All those involved (e.g., patients, carers, professionals) face a unique set of challenges and needs, especially in families where the patient is a child or a young person with a lifelong condition. The aim of the study was to explore carers' and young people's needs when living with long term conditions, as well as the views of the healthcare professionals supporting them. Semi-structured interviews with 30 participants (11 professionals, 10 parents, and 9 young people) were conducted. Interviews focused on 3 main areas-(1) medical needs, (2) psychological needs, and (3) communication needs-and were analyzed using thematic analysis. Four main themes emerged: (1) Acceptance takes time refers to the often long and challenging process of adapting to the diagnosis and living with the condition; (2) Close guidance captures the importance of specialised and long term guidance in accessing and managing the complexities of the medical system; (3) Open communication shows the families' need to be collaboratively connected to healthcare providers and other families facing similar difficulties; and (4) Long-term support underlines the importance of long term formal and informal support strategies. The participants' experiences and views have provided us with insight and guidance for developing and implementing personalized and integrated services. This inside perspective is key for future research aimed at better understanding the impact of complex conditions and meaningful ways to support families throughout their journeys.

Mapping psychosocial interventions in familial colorectal cancer: a rapid systematic review.

BACKGROUND: Approximately 5% of colorectal cancer (CRC) cases are part of a well-defined inherited genetic syndrome and up to approximately 30% of these cases have a clinically defined familial basis. Psychosocial interventions in familial colorectal cancer address aspects mainly focused on affective, cognitive and behavioural outcomes. The present review aims to systematically map out the available psychosocial interventions for individuals with a family history of CRC and describe the current state of the research. METHODS: An extensive electronic search was conducted to investigate the literature published until June 2020. Inclusion criteria consisted of quantitative studies published in English that explored the impact of psychosocial interventions for familial CRC, clearly defined the psychosocial intervention offered and included participants with a family history of CRC. RESULTS: The analysis included 52 articles. Genetic counselling, educational interventions, psychological interventions and multimodal interventions were identified across the studies. In terms of diagnoses, Lynch Syndrome, Familial Adenomatous Polyposis, Familial Colorectal Cancer were the main conditions included in the studies. Affective, cognitive, behavioural aspects and quality of life emerged as the most frequently explored outcomes. The studies included individuals with both personal and familial history of CRC or family history alone. CONCLUSIONS: Our rapid review provides an overview of the literature exploring the impact of psychosocial interventions for familial CRC. The psychosocial interventions identified had an overwhelmingly positive impact across all types of outcomes measured. Genetic counselling appeared to be most beneficial, and this is expected as it is purposively designed to address genetic conditions. Further quantitative analysis of primary empirical research is needed to determine the efficacy and effectiveness of psychosocial interventions as well as the mechanisms through which they exert their effect.

Developing genetic counselling services in an underdeveloped healthcare setting.

Genetic counselling services are well established in North America, Western Europe and Australia. In other regions, genetic counselling services are still emerging. Where this is the case, an in-depth understanding of the main stakeholders' needs, challenges and opportunities will inform the changes and innovations required to bring genetic counselling closer to the community. The present study explored the needs and challenges of patients, family members and professionals with a view to setting up a cancer genetic counselling service in Romania. In order to get a comprehensive outlook, key stakeholders were interviewed using data source triangulation method. Thirty-four semi-structured interviews were conducted (13 patients, 11 family members and 10 professionals). Thematic analysis was used to explore and identify needs, barriers and opportunities in emerging cancer genetic counselling services. Three major themes were identified: (1) the "Needs" theme mainly focuses on various types of support that participants mentioned wanting: psychosocial, peer and additional support; (2) the "Challenges" theme includes aspects related to limited access to healthcare, lack of integrated services and pressure on the families; (3) the "Hopes" theme highlights the wish for integrated healthcare and an empathic rapport with healthcare providers. Our findings highlighted the main needs, challenges and hopes the patients, family members and professionals have and provides the groundwork for setting up cancer genetic counselling services.

Screeners vs. Non-screeners for Colorectal Cancer among People over 50 Years of Age: Factual and Psychological Discriminants.

BACKGROUND AND AIMS: Colorectal cancer (CRC) is the third most frequent form of cancer worldwide, and approximately one third of cases have a positive family history of CRC or associated cancers. Colonoscopy is one of the most effective methods of screening for CRC. Uptake of colonoscopy is suboptimal, and many countries lack a national screening programme. Our study aims at exploring and ranking several factual and psychological variables according to their accuracy in discriminating between screeners and non-screeners for CRC in a convenience sample of people over 50 years of age. METHODS: The study included 103 individuals aged over 50 years, recruited from day centres for the elderly. We explored socio-demographic variables, frequency of colonoscopy, previous recommendations for screening, health literacy and family history of cancer. Receiver operating characteristic (ROC) analysis was used to establish the discriminative value for each variable between the positive and negative decision for colonoscopy screening. Areas under the curve (AUC) and their equivalent Cohen's d values were calculated. RESULTS: Almost a quarter (25.75%) of participants reported previous colonoscopy screening. ROC curve analysis shows that colonoscopy uptake is best discriminated by perceived benefits of screening (AUC=0.71, d=0.78, p<0.001), previous recommendations for screening (AUC=0.68, d=0.69, p<0.001) and previous recommendations for preventive measures (AUC=0.67, d=0.64, p<0.001). CONCLUSIONS: Recommendations from healthcare professionals lead to improved colonoscopy uptake when emphasising the benefits of screening. Results can further inform psychosocial interventions by bringing empirical evidence to emphasize screening benefits and explicit recommendations for individuals at risk for CRC cancer.

Cognitive evolutionary therapy versus standard cognitive therapy for depression: A single-blinded randomized clinical trial.

OBJECTIVE: To compare the efficacy of cognitive evolutionary therapy (CET) with cognitive therapy (CT) for depression. METHODS: Ninety-seven participants (78 females/19 males) were randomized to a single-blinded controlled trial (CET: n = 51 vs. CT: n = 46). Assessments were conducted at baseline, Sessions 4 and 8, posttreatment, and 3-month follow-up. Clinical diagnoses were made with Structured Clinical Interview for DSM-IV (SCID) and self-reports for depression and secondary outcomes. RESULTS: Although both groups showed significant reductions in depressive symptomatology, the overall Time × Treatment group interaction in the intent to treat analysis was not significant (p = .770, posttreatment: d = 0.39). However, CET was superior to CT at increasing engagement in social and enjoyable activities (p = .040, posttreatment: d = 0.83, p = .040) and showed greater reductions than the CT group in behavioral inhibition/avoidance (p = .047, d = 0.62). The between-group differences generally diminished at the 3-month follow-up. CONCLUSIONS: CET is a novel therapy for depression that may add therapeutic benefits beyond those of CT.

Evaluating a genetic counseling narrative group session for people who have tested positive for the Huntington's disease expansion: An interpretative phenomenological analysis.

Huntington's disease (HD) is an inherited neurodegenerative disorder characterized by motor problems, cognitive impairment, and mood disturbances. Given the emotional elements of both HD itself and the testing process for it, psychological interventions may be helpful for those families impacted by HD. A stand-alone genetic counseling narrative group has been offered by one regional genetics clinic in the north of England to support people's coping following predictive genetic testing for HD. Groups are held 4-5 times per year with patients attending a group on a single occasion. This study assessed participants' experiences of attending a group using the qualitative method interpretative phenomenological analysis (IPA). Telephone interviews were conducted with 12 people who had a mutation-positive HD predictive test result and who had taken part in a genetic counseling narrative group session between November 2017 and February 2018. Participants were asked about their experiences of the group and any impact it had had on their lives. Four themes emerged: 'The power of the group, 'Active elements of the narrative exercise', 'Subsequent impact of the session', and 'Another voice'. Participants described the positive impact of being able to meet and empathize with others in a similar situation, the group's positive impact on their mood and future outlook, and its beneficial impact on disclosure. While most participants were positive about the session, the final theme presented the voices of two participants for whom the groups were poorly timed. Given the sessions' generally positive impact, we recommend other centers consider offering people impacted by HD similar sessions.

Improving follow up after predictive testing in Huntington's disease: evaluating a genetic counselling narrative group session.

Recently updated Huntington's disease (HD) predictive testing guidelines emphasise clinicians' responsibility to facilitate emotional support following testing, regardless of the result. Yet models of post-test counselling support are poorly defined. Moreover, it is unclear how these might be best delivered. In this project, a genetic counsellor and clinical psychologist developed standalone group sessions using collective narrative practices for individuals post-predictive testing. Here we present an evaluation of the experiences of one group of six people who have tested mutation positive for HD and remain pre-symptomatic. Two partners also attended the session. Observations, evaluation forms and telephone interviews were used in data collection. Interview data was available from five mutation-positive individuals and one partner. Qualitative data were analysed using a thematic framework approach. Responses were overwhelmingly positive, emphasising the importance of a specifically arranged time and space to share experiences in a structured way. This was typically the first time participants had spoken openly with someone in their situation. Narrative facilitation of discussion encouraged participants to re-discover their strengths and resiliences, with similar experiences being discovered through connections with others. The evaluation was successful in implementing group narrative interventions as part of the predictive test counselling support for Huntington's disease. Participants suggested that the approach could be extended and adopted for other genetic conditions.

Psychiatric genetic counseling: A mapping exercise.

Psychiatric genetic counseling (PGC) is gradually developing globally, with countries in various stages of development. In some, PGC is established as a service or as part of research projects while in others, it is just emerging as a concept. In this article, we describe the current global landscape of this genetic counseling specialty and this field's professional development. Drawing on information provided by expert representatives from 16 countries, we highlight the following: (a) current understanding of PGC; (b) availability of services for patients; (c) availability of training; (d) healthcare system disparities and cultural differences impacting practice; and (e) anticipated challenges going forward.

The Global State of the Genetic Counseling Profession.

The profession of genetic counseling (also called genetic counselling in many countries) began nearly 50 years ago in the United States, and has grown internationally in the past 30 years. While there have been many papers describing the profession of genetic counseling in individual countries or regions, data remains incomplete and has been published in diverse journals with limited access. As a result of the 2016 Transnational Alliance of Genetic Counseling (TAGC) conference in Barcelona, Spain, and the 2017 World Congress of Genetic Counselling in the UK, we endeavor to describe as fully as possible the global state of genetic counseling as a profession. We estimate that in 2018 there are nearly 7000 genetic counselors with the profession established or developing in no less than 28 countries.

Deterioration rates in Virtual Reality Therapy: An individual patient data level meta-analysis.

Ample evidence supports the use of Virtual Reality (VR) for anxiety disorders. Nonetheless, currently there is no evidence about moderators or potential negative effects of VR treatment strategies. An Individual Patient Data (IPD) approach was employed with 15 retrieved datasets. The current study sample was composed of 810 patients. Randomized control trials (RCTs) for each primary outcome measure were performed, in addition to moderator analyses of the socio-demographic variables. Deterioration rates were 14 patients (4.0%) in VR, 8 (2.8%) in active control conditions, and 27 (15%) in the WL condition. With regard to receiving treatment, patients in a waiting list control condition had greater odds of deteriorating than in the two active conditions, odds ratios (ORs) 4.87, 95% confidence interval (CI) [0.05, 0.67]. In the case of the socio-demographic variables, none of them were associated with higher or lower odds of deterioration, with the exception of marital status in the WL condition; married people presented a significantly lower probability of deterioration, OR 0.19, 95% CI [0.05, 0.67]. Finally, when comparing pooled effects of VR versus all control conditions, the OR was 0.61 (95% CI 0.31-1.23) in favor of VR, although this result was not statistically significant. This study provides evidence about the deterioration rates of a therapeutic VR approach, showing that the number of deteriorated patients coincides with other therapeutic approaches, and that deterioration is less likely to occur, compared to patients in WL control groups.

Predictors of outcome in cognitive and behavioural interventions for irritable bowel syndrome. A meta-analysis.

BACKGROUND AND AIMS: Cognitive behavioural therapy (CBT) has small to medium effects in alleviating emotional distress and psychosomatic symptoms in irritable bowel syndrome (IBS). However, the mechanism through which CBT exerts its effects is less studied. Mediation analysis examines the extent to which intermediate variables explain the effect of the intervention on outcomes. The meta-analysis aims to identify and assess the impact of CBT mediators identified in previous research on IBS. METHODS: An extensive search of studies investigating the effects of CBT for IBS published before January 2018 was conducted. A total of 699 studies were identified through database search and 6 studies including data from 638 patients were analysed. The selected studies had to clearly define the CBT intervention, include IBS patients, report sufficient data to allow calculation of effect sizes and provide a clear mediation analysis of one or several variables on the outcome. RESULTS: The total effect of CBT was significant for both categories of outcomes (i.e. IBS symptom severity and psychosocial distress), with a low-to-moderate effect on psychosocial distress (r=0.222) and a medium-to-large effect on IBS symptom severity (r=0.413). In fact, the total effect of CBT on IBS symptom severity is significantly higher than the total effect on psychosocial distress Q(1)= 5.06, p= 0.024. Both behaviours and emotions (r=0.158) as well as cognitions (r=0.141) generated significant mediated effects on psychosocial distress, with no significant differences between them (Q(1)= 0.05, p=0.825). Behaviours and emotions mediated 71.1% of the total effect of CBT on psychosocial distress and cognitions mediated 63.5% of the total effect. CONCLUSION: Although significant for both outcomes, the statistical analysis revealed CBT interventions have a greater effect on alleviating IBS symptoms severity rather than on reducing psychological distress. Of the mediators investigated, behaviours, emotions and cognitions seem to have a small to moderating effect in reducing IBS symptom and psychological distress.

Genetic Counselling and Narrative Practices: A Model of Support following a "Negative" Predictive Test for Huntington's Disease.

BACKGROUND: Predictive testing for Huntington's disease (HD) has been available for individuals at risk of HD by direct mutation analysis since 1993. International Predictive test guidelines recommend that support is offered following the result regardless of test outcome. However, there is lack of an evidence base regarding what this support should look like and how it might work in practice. OBJECTIVE: A service improvement initiative looked at the feasibility of offering a narrative group session co-facilitated by a genetic counsellor and clinical psychologist, to individuals who had tested mutation negative for HD. The narrative session was evaluated from the perspective of group participants. METHODS: Individuals who tested mutation negative at a genetic centre in the North of England over a 5-year period were invited to attend a narrative group session. 52 people were contacted and 9 people agreed to participate. Participants completed standardised questionnaires (PHQ-9 and GAD-7) before and after the session and a detailed written evaluation. Participants' comments were analysed thematically. RESULTS: Participants were overwhelmingly positive about the narrative session finding it a safe and enjoyable way to explore difficult life experiences. Reported benefits included feeling less isolated, being inspired by other people's stories and connecting as a group. All 9 participants said they would recommend the narrative session to anyone impacted by HD. CONCLUSIONS: The narrative group session was considered an interesting and useful approach to facilitating adaptation following a negative predictive test result for HD.

The Efficacy of Genetic Counseling for Psychiatric Disorders: a Meta-Analysis.

Psychiatric illnesses are complex, highly heritable disorders that have substantial implications for both affected individuals and their families. Though genetic testing is currently limited in its clinical usefulness in this area, interest in genetic counseling for psychiatric disorders has a relatively long history and many positive outcomes have been posited. Yet, empirical studies of genetic counseling outcomes have been emerging only more recently. The aim of the current meta-analysis was to analyze the efficacy of genetic counseling and explore potential moderators of its effect. An extensive electronic search was conducted investigating the literature published until July 2016. The initial search resulted in 2367 articles, four of which met the inclusion criteria and were included in the quantitative meta-analysis. Effect size parameters and sample sizes for all variables in each study were included. The efficacy has ben demonstrated both at post-intervention and at follow up, with an overall statistically significant effect size of moderate intensity. Implications of this study are discussed in detail.