Brief Counseling for Alcohol Misuse Among Trauma Patients: Two Interventions and Influence of Baseline Use

This study examined whether baseline trauma patient characteristics and randomized participation in 1 of 2 brief interventions predicted changes in alcohol use at 6 months postintervention. Higher total Alcohol Use Disorders Identification Test (AUDIT) scores predicted greater changes, and specific AUDIT items were significant predictors.     

Reimagining the Cuckoo’s Nest

One Flew Over the Cuckoo's Nest (1962) by Ken Kesey and The Devil in Silver (2012) by Victor LaValle are two novels that focus on mental hospitalization as a medical and social practice. Published fifty years apart, however, the books possess important differences in setting, method, and message reflecting the times that spawned them. The purpose of this paper is to examine the changing documentary and metaphorical uses of the asylum novel by comparing an iconic work in the genre with a respectful, but divergent, successor. What emerges from this comparison is an appreciation of the literary conventions shared by Kesey and LaValle but also the ingredients that separate their work. Whereas Kesey produced an enduring tribute to the virtue of nonconformity, LaValle's social criticism expresses itself as a disturbing portrayal of class-based disparities and administrative dysfunction inside the contemporary American mental health system.     

Beyond Pathologizing Harm: Understanding PTSD in the Context of War Experience

An alternative to objectifying approaches to understanding Post-traumatic Stress Disorder (PTSD) grounded in hermeneutic phenomenology is presented. Nurses who provided care for soldiers injured in the Iraq and Afghanistan wars, and sixty-seven wounded male servicemen in the rehabilitation phase of their recovery were interviewed. PTSD is the one major psychiatric diagnosis where social causation is established, yet PTSD is predominantly viewed in terms of the usual neuro-physiological causal models with traumatic social events viewed as pathogens with dose related effects. Biologic models of causation are applied reductively to both predisposing personal vulnerabilities and strengths that prevent PTSD, such as resiliency. However, framing PTSD as an objective disease state separates it from narrative historical details of the trauma. Personal stories and cultural meanings of the traumatic events are seen as epiphenomenal, unrelated to the understanding of, and ultimately, the therapeutic treatment of PTSD. Most wounded service members described classic symptoms of PTSD: flashbacks, insomnia, anxiety etc. All experienced disturbance in their sense of time and place. Rather than see the occurrence of these symptoms as decontextualized mechanistic reverberations of war, we consider how these symptoms meaningfully reflect actual war experiences and sense of displacement experienced by service members.     

Identification as a Mutation Carrier and Effects on Life According to Experiences of Finnish Male BRCA1/2 Mutation Carriers

Earlier studies have explored post-identification experiences of male BRCA1/2 mutation carriers, but more detailed knowledge of both their experiences and effects of identification as a carrier on their lives is required to improve genetic counseling. Thus, the aim of this study was to acquire deeper and broader insights into their experiences. Qualitative data were collected from theme-based interviews with 31 men carrying BRCA1/2 mutations in Finland, and analyzed using inductive content analysis. Three categories of the participants’ responses to identification as BRCA1/2 mutation carriers were identified (personal, offspring-related and related to other relatives), mainly concerning issues associated with cancer, hereditary transmission of their mutations, and life decisions. Although there were many neutral responses regarding the issues, there were also strong emotional reactions and cancer worries. Identification as a carrier also had several effects on participants’ lifestyles, including adoption of healthier and disease-preventing behavior, and social well-being, such as family planning and attitudes to life. The results provide detailed information about several aspects of male BRCA1/2 mutation carriers’ experiences, which could be used to develop a tentative model of tailored genetic counseling for them.     

Genetic Counseling in the Era of Genomics: What’s all the Fuss about?

As genomic sequencing becomes more widely available in clinical settings for diagnostic purposes, a number of genetic counseling issues are gaining precedence. The ability to manage these issues will be paramount as genetic and non-genetic healthcare professionals navigate the complexities of using genomic technologies to facilitate diagnosis and inform patient management. Counseling issues arising when counseling for diagnostic genomic sequencing were identified by four genetic counselors with 10 years of collective experience providing genetic counseling in this setting. These issues were discussed and refined at a meeting of genetic counselors working in clinical genomics settings in Melbourne, Australia. Emerging counseling issues, or variations of established counseling issues, were identified from the issues raised. Illustrative cases were selected where pre- and post-test genetic counseling was provided in clinical settings to individuals who received singleton or trio WES with targeted analysis. Counseling issues discussed in this paper include a reappraisal of how genetic counselors manage hope in the genomic era, informed consent for secondary use of genomic data, clinical reanalysis of genomic data, unexpected or unsolicited secondary findings, and trio sequencing. The authors seek to contribute to the evolving understanding of genetic counseling for diagnostic genomic sequencing through considering the applicability of existing genetic counseling competencies to managing emerging counseling issues and discussing genetic counseling practice implications.     

“Bridge to the Literature”? Third-Party Genetic Interpretation Tools and the Views of Tool Developers

Patients and health care consumers can obtain access to their “raw,” or uninterpreted, genetic data from direct-to-consumer genetic testing companies, researchers, or providers and pursue self-directed analysis via third-party interpretation tools. Yet relatively little is known about the nature of currently available interpretation tools or the motivations of tool developers. We conducted a structured content analysis of 23 third-party interpretation tool websites and supporting information, tracking features such as types of information returned, modes of generating and presenting that information, and privacy and security measures. We additionally conducted qualitative interviews with a subset of 10 tool developers. A majority of tools (16 of 23, or 70%) offer some type of health or wellness-related information, often extracted from publicly available variant annotation databases. Half of those interviewed characterized their activities as “bridging” users to the scientific literature rather than interpretation, for which they gave a variety of scientific, ethical, and regulatory justifications. The scale, heterogeneity, and complexity of information available from third-party interpretation are unprecedented. While developers aim to enlighten and empower tool users, interpretation-free “bridging” to rapidly evolving databases may instead impose burdens on genetic counselors and other health care providers asked to provide further contextualization and explanation.     

An Evidence-Based,Community-Engaged Approach to Develop an Interactive Deliberation Tool for Pediatric Neuromuscular Trials

Duchenne/Becker muscular dystrophy (DBMD) and spinal muscular atrophy (SMA) are rare neuromuscular disorders that present challenges to therapeutic and clinical trial decision making. We developed an interactive, evidence-based online tool designed to encourage thoughtful deliberation of the pros and cons of trial participation and to inform meaningful discussions with healthcare providers. Prior research demonstrates the importance of tool availability at the time each family is considering trial participation, which may be prior to the informed consent process. The tool is intended to be easily modified to other pediatric disease communities. Tool development was informed by prior qualitative research, literature reviews, and stakeholder input. Specific items were derived based on an online exploratory questionnaire of parents whose children participated in a trial for DBMD or SMA to understand motivations for participation. Parent participants in the exploratory survey reported strong impact of altruistic and individual benefit motivations and placed much greater emphasis on anticipated trial benefits than on harms when making participation decisions. We used this data to develop the evidence-based deliberation tool using a community-engaged approach. We initially targeted the tool for DBMD while using SMA survey data to evaluate ease of transition to that population. We conducted two iterative sets of activities to inform development and refinement of the tool: (1) community engagement of key stakeholders and (2) user experience testing. These activities suggest that the tool may increase deliberation and the weighing of benefits and harms. Ongoing evaluation will determine the acceptability and efficacy of this online intervention.     

Breast Cancer Genetics Knowledge and Testing Intentions among Nigerian Professional Women

Genetic testing services for breast cancer are well established in developed countries compared to African populations that bear a disproportionate burden of breast cancer (BC). The objective of this study is to examine the knowledge of professional Nigerian women about BC genetics and their intentions to utilize genetic testing services when it is made available in Nigeria. In this study, 165 lecturers and 189 bankers were recruited and studied using a validated self-administered questionnaire. The respondents’ mean age was 34.9 years (SD?=?10.9), 6.5% had family history of BC, and 84.7% had limited knowledge of breast cancer genetics. The proportion of women with genetic testing intentions for breast cancer was 87.3%. Health care access (OR?=?2.35, 95% CI, 1.07–5.13), religion (OR?=?3.51, 95% CI, 1.03–11.92), and perceived personal risk if a close relative had breast cancer (OR?=?2.31, 95% CI, 1.05–5.08) independently predicted testing intentions. The genetic testing intentions for BC were high despite limited knowledge about breast cancer genetics. Promotion of BC genetics education as well as efforts to make BC genetic testing services available in Nigeria at reduced cost remains essential.     

Utilization of the Tablet Application Proband in Pedigree Construction and Assessment

Many medical institutions have converted to a digital model for record keeping due to the Health Information Technology for Economic and Clinical Health Act. This Act provides incentives to health care systems to accelerate and encourage the adoption of electronic health record (EHR) systems. The pedigree as a tool in medicine provides an efficient method to assess and represent an individual’s health and family health risks that may otherwise not be apparent in the medical record in a clearly identifiable way (Schuette, J. L., & Bennett 2009). Many clinicians continue to construct pedigrees using pen and paper method despite findings of improved identification of at risk patients with similar electronic intake tools (Arar et al. in Personalized Medicine 2011 8:523–32). The goal of this study was to explore the patient and practitioner experience with electronic pedigree programs using Proband, an application developed at The Children’s Hospital of Philadelphia for genetic counselors to construct pedigrees during genetic counseling sessions directly on iPads. The first part of this study looked at the patient experience and assessed time to take the pedigree and the impact of using an electronic pedigree tool on the relationship between participant and genetic counselor. This involved 50 participants and was compared with the traditional paper method of taking a pedigree. There was no statistical significance found between the two different mediums in accuracy, speed, and rapport with provider. The second part of the study assessed the usability of Proband by ten genetic counselors. Overall, the application received a system usability score of 90/100 with a majority (7/10) of counselors agreeing that they would use this application in their clinic. The positive outcome of this study encourages future work to assess the impact and usability of programs on a larger scale as they continue to integrate into current electronic health records.