What next for "counseling" in genetic counseling training: A reflection on how CBT and ACT approaches can contribute to the genetic counseling toolkit.

Counseling techniques are an important component of genetic counseling training and are focused on the person-centered counseling philosophy. While this has a long tradition within the profession and underpins the empowerment goal, it should not limit consideration of the potential benefits of education on other psychotherapeutic approaches such as the cognitive philosophy. The goal of empowerment in genetic counseling requires patients to receive information in a way that is accessible to them and to make sense of it in relation to their own health, lifestyle, and family information. This assimilation of new information is a complex cognitive process, and yet it is one that genetic counselors do not routinely actively facilitate. Rather the counseling component of genetic counseling has traditionally focused on emotionally supporting the patient which is driven by the person-centered philosophy that is covered in genetic counseling training. This paper argues for the potential for adopting more cognitive approaches informed by cognitive-behavioral therapy (CBT) and acceptance and commitment therapy (ACT), as these short interventions can have wide impact, including engaging patients who do not want to discuss feelings, helping people to make sense of information (not just gain knowledge), and helping people to change the relationship they have with their thoughts. This paper advocates for an introduction to CBT and ACT to be incorporated into prequalification training and for more advanced training to be available to postqualification genetic counselors.

What next for "counseling" in genetic counseling training: A co-production workshop exploring how CBT and ACT approaches can contribute to the genetic counseling toolkit.

Counseling techniques are an important part of genetic counseling, and teaching of the humanistic person-centered philosophy has been central to genetic counselor (GC) training. However, other psychotherapeutic approaches, especially cognitive approaches, may also be beneficial for the GC to have in their toolkit. This paper reports on a co-production workshop with newly qualified GCs where the potential for adopting more cognitive approaches informed by cognitive behavioral therapy (CBT) and acceptance and commitment therapy (ACT) was explored. Attendees were taught about the approaches and the rationale for their use in genetic counseling and had a chance to discuss their reactions and ideas for application. The attendees saw great potential for the approaches within their practice, feeling that these short interventions can have a wide impact, including engaging patients who do not want to discuss feelings, helping people to make sense of information (not just gain knowledge), and helping people to change the relationship they have with their thoughts. They were able to identify when they already use some cognitive approaches in their practice, and to see how they could build on this to provide better patient care. The paper advocates for an introduction to CBT and ACT to be incorporated into pre-qualification training, and for more advanced training to be available to post-qualification GCs.

BRCA gene testing in women with high-grade serous ovarian carcinoma.

The objective of this study was to compare the pick-up rate of pathogenic BRCA variants in those with a high-grade serous ovarian carcinoma (HGSOC) undergoing oncology-led testing with the traditional genetics family history-based testing model. With novel therapies, BRCA status can affect treatment. Welsh oncologists are now testing all women with HGSOC at diagnosis rather than referring to genetics, where family history is required for testing. The records of 332 women who underwent testing via oncology were analysed. The outcome measures were; percentage of women with a pathogenic BRCA variant and the difference in identification of pathogenic BRCA variants between the oncology-led and traditional genetics testing models. Of the 332 women, 25 women (7.5%) tested positive for a pathogenic BRCA variant. This was slightly lower than the detection rate of 9.8% for patients tested via the genetics service over the same period. Testing through genetics, using family history criteria would have identified only 19 (76%) of those with pathogenic variants in the oncology cohort. Since women with a pathogenic BRCA variant can be offered life-extending targeted treatment and a significant proportion of these women would be missed if testing was offered based on family history criteria alone, universal BRCA testing of all women with HGSOC is justified.Impact statement:What is already known on this subject? It is well established that individuals with a strong family history of breast and ovarian cancer are more likely to carry a pathogenic BRCA gene variant. With the use of tools such as the Manchester scoring system women are often invited for testing through clinical genetics services. Until recently there was no clinical impact for those already diagnosed with ovarian cancer.What do the results of this study add? Our study has shown that the diagnosis of high grade serious ovarian carcinoma alone without the need for any family history leads to a similar rate of detection of pathogenic BRCA variants as traditional methods. With the advent of targeted treatments such as olaparib, women with a pathogenic BRCA variant can access different life extending treatment options. With comparable pick-up rates to traditional family history based scoring systems, oncologists can now arrange BRCA gene testing directly.What are the implications of these findings for clinical practice and/or further research? Our study shows universal genetic testing of those with high-grade serious ovarian carcinoma by oncologists allows more women to access life extending treatment in a shorter timeframe compared to the traditional testing model used by clinical genetics services. We hope that other centres, both in the UK and beyond, will adopt this approach.

Perceptions of Pregnancy and Lactation from the Pregnancy and Lactation Autoimmune Network Registry.

OBJECTIVE: The Pregnancy and Lactation Autoimmune Network (PLAN) registry was established to evaluate the concerns of women with autoimmune or inflammatory rheumatic diseases (AIRD) pertaining to pregnancy and lactation. METHODS: The registry was started as a survey of patients with AIRD at a single rheumatology specialty center in November 2016 and included questions regarding fertility, pregnancy, miscarriages, and lactation before and after diagnosis. RESULTS: The study included 154 subjects from the PLAN registry. More than half (52%) of respondents indicated that their diagnosis negatively changed their views on pregnancy and nearly a third (30%) decided not to have children after AIRD diagnosis. Most (66%) women were concerned that medication use during the childbearing process would affect the baby. One-third (34%) indicated their views on breastfeeding negatively changed as a result of their disease diagnosis. The rates and duration of breastfeeding did not differ significantly for babies born before or after the mothers' diagnosis (p = 0.50 and p = 0.21, respectively). Eighteen women in our study avoided breastfeeding or stopped breastfeeding earlier than planned to start a medication (including etanercept, adalimumab, hydroxychloroquine, and certolizumab) they believed to be contraindicated during lactation. The PLAN registry included 19 women who breastfed 22 babies while being exposed to a disease-modifying antirheumatic drug or biologic. None of these 19 women reported a delay in their children's developmental milestones or higher infection rates. CONCLUSION: This study highlights an unmet need in patients with AIRD of childbearing potential for data and education regarding pregnancy and lactation.

The cross-cultural expression of internet gaming distress in North America, Europe, and China.

We compare the forms online gaming-related distress takes cross-culturally, and examine how much such distress resembles the World Health Organization's (WHO) "Gaming disorder," understood to be an "addiction." Our preliminary exploratory factor analysis (EFA) in North America (n = 2025), Europe (n = 1198), and China (n = 841) revealed a constant four-factor structure across the three regions, with classic "addiction" symptoms always clustering together on the first and most important factor, though with some variability in regional factors' exact item composition. In the present study, we use second-order confirmatory factor analysis (CFA) to further examine this factor structure and the cultural similarities and differences. Specifically, we focus on confirming the regional structure and composition of an ethnographically developed 21-item gaming distress scale, which contains a wider symptoms pool than typical gaming disorder scales, and thus allows us to better separate generalized gaming distress's "addictive" from other culturally-influenced "problem" experiences and behaviors in each regional case. We use propensity score matching to separate the impact on gaming-related distress of regional culture from demographic variables (North America/Europe: n = 1043 pairs; North America/China: n = 535 pairs). Although our results support current WHO formulations of gaming-related distress as an addictive disorder, we show how cultural forces can shape how "addictive" and "problem" gaming are experienced and thus psychiatrically presented in different parts of the world. In particular, generalized gaming distress's addictive and problematic dimensions seem to be shaped by culture-specific expressions of achievement motivations, social connection and disconnection, and unique psychosomatic experiences.

Distinguishing Core from Peripheral Psychiatric Symptoms: Addictive and Problematic Internet Gaming in North America, Europe, and China.

We explore the problem of distinguishing the relatively constant versus culturally variable dimensions of mental suffering and disorder in the context of a cross-cultural study of Internet gaming-related distress. We extend the conceptual contrast of "core" and "peripheral" symptoms drawn from game studies and use a framework that synthesizes cultural and neurobiological understandings of emotional distress. In our framework, "core" symptoms are relatively constant across cultures and therefore presumed to be more closely tied to a neurobiological base. By contrast, we treat as "peripheral" symptoms those that are more culturally variable, and thus less directly tied to the neurobiology of addiction. We develop and illustrate this approach with a factor analysis of cross-cultural survey data, resting on previous ethnographic work, through which we compare online gaming distress experienced in North America (n = 2025), Europe (n = 1198), and China (n = 841). We identify the same four-factor structure across the three regions, with Addiction always the first and most important factor, though with variability in regional factors' exact item composition. The study aims to advance an integrative biocultural approach to distinguishing universal as opposed to culturally contingent dimensions of human suffering, and to help resolve debates about whether problem gaming represents a form of addiction.