Looking for Trouble: Preventive Genomic Sequencing in the General Population and the Role of Patient Choice

Advances in genomics have led to calls for developing population-based preventive genomic sequencing (PGS) programs with the goal of identifying genetic health risks in adults without known risk factors. One critical issue for minimizing the harms and maximizing the benefits of PGS is determining the kind and degree of control individuals should have over the generation, use, and handling of their genomic information. In this article we examine whether PGS programs should offer individuals the opportunity to selectively opt out of the sequencing or analysis of specific genomic conditions (the menu approach) or whether PGS should be implemented using an all-or-nothing panel approach. We conclude that any responsible scale-up of PGS will require a menu approach that may seem impractical to some, but that draws its justification from a rich mix of normative, legal, and practical considerations.     

The Care of the Ultra-Orthodox Jewish Patient

The Ultra-Orthodox Jewish community embraces a system of values and a rigorous behavioral code that are deeply rooted in religious tradition and history. Here we describe some of the unique challenges that stem from the encounter between modern medical practice and the Ultra-Orthodox world. Through examples of clinical and ethical scenarios ranging from prenatal care to end-of-life decisions, we illustrate problems related to observance of age-old practices in a modern hospital setting, balancing acceptance of Divine will with standard risk assessment, reconciliation of patient autonomy with deference to rabbinic authority and fear of stigma associated with mental illness in a traditional society. We also offer a generalizable model where inquiry precedes pre-formulated judgment to help clinicians provide enhanced care for this population.     

Care of the Patient Undergoing Sex Reassignment Surgery

SUMMARY

Sex reassignment surgery (SRS) has proven to be an effective intervention for the patient with gender dysphoria. As with any surgery, the quality of care provided before, during, and after SRS has a significant impact on patient outcomes. This article is intended to help primary care providers who are already familiar with routine transgender care to understand the specialized processes involved in SRS. Topics include guidelines for the recommendation of SRS, feminizing and masculinizing surgical procedures, suggested timelines for various interventions, expected course and recovery, risks and complications, and revisional surgery that may be required.     

Maternal Care and Individual Differences in Defensive Responses

Abstract— Familial transmission of mental illness is common. Recent studies in behavioral neuroscience and biological psychiatry reveal the importance of epigenetic mechanisms of transmission that center on the developmental consequences of variations in parental care. Studies with rats suggest that environmental adversity results in patterns of parent–offspring interactions that increase stress reactivity through sustained effects on gene expression in brain regions known to regulate behavioral, endocrine, and autonomic responses to stress. While such effects might be adaptive, the associated cost involves an increased risk for stress-related illness.     

Patient Autonomy and Quality of Care in Telehealthcare

Telemedicine is a complex field including various applications and target groups. Especially telehealthcare is seen by many as a means to revolutionize medicine. It gives patients the opportunity to take charge of their own health by using self-tracking devices and allows health professionals to treat patients from a distance. To some, this means an empowerment of patient autonomy as well as an improvement in the quality of care. Others state the dangers of depersonalization of medicine and the pathologization of daily life. This paper examines the ethical implications of telehealthcare, focusing on patient autonomy and quality of care by analyzing metareviews, randomized controlled trials and narrative ethical analyses on the topic. As a result, we conclude that the technically enhanced encounter between patients and health professionals may mean an empowerment of patient autonomy when it goes along with a personal relationship based on trust, assistance and support. When it comes to the quality of care, telehealthcare may lead to an improvement as long it is adopted to the patient’s individual needs.     

A Preventive Coping Perspective of Individual Response to Terrorism in Canada

A plethora of studies on terrorism underscores the challenges of managing the psychological and behavioural impacts of terrorist events. This literature also emphasizes the idea that the global pending threat of terrorism, prior to the occurrence of any event, may also give rise to significant reactions among members of the public. Drawing from the literature on proactive coping, the current study presents the results of factor analyses performed on sections of a national survey that assessed appraisals of as well as actual responses to the threat of terrorism in Canada (N = 1,502). Findings revealed that items assessing individual response to terrorism were represented by three factors in this context: Individual Preparedness, Information Seeking, and Avoidance Behaviour. Further analyses demonstrated a tendency for actual preparedness behaviours to be associated with decreased psychological stress, and actual avoidance behaviours to be associated with heightened psychological stress. Furthermore, the divergent patterns of relationships of terrorism response appraisals and corresponding actual responses with psychological stress emphasized the need to distinguish different stages in the process of preventive coping with terrorism. Theoretical and practical implications of findings for individual preparedness in Canada are discussed.

尝析颅内压增高病人护理中的哲学思维

颅内压增高是神经外科最常见的临床病理综合征,若得不到及时的诊断和救护则可诱发急性脑疝而死亡。“三分治疗,七分护理”,护理的作用是不可低估的。在护理中必须遵循科学的哲学思维,以辨证规律指导错综复杂的护理工作,才能制定和实施严密的个体化整体护理计划,以取得良好的护理效果。     

尝析颅内压增高病人护理中的哲学思维

颅内压增高是神经外科最常见的临床病理综合征,若得不到及时的诊断和救护则可诱发急性脑疝而死亡."三分治疗,七分护理",护理的作用是不可低估的.在护理中必须遵循科学的哲学思维,以辨证规律指导错综复杂的护理工作,才能制定和实施严密的个体化整体护理计划,以取得良好的护理效果.     

从社会医学角度整体地关照病人的需要

医学模式代表了三个主要历史时代发生的特征性变化,这三个时代是前工业化时代,工业时代及我们目前正在步入的后工业化时代,需要讨论的是,如果要展开真正有效的社会医学实践,不仅医学知识,并且医务人员必须经历一个根本的转变,从历史上看,医生学到的是将医学界定为应用生物学及将疾病界定为机体器官,组织的结构和功能的不正常。但社会科学观点可以帮助医生认识病和症的区别,即它们仅仅是在病理心理学过程与病人的实际疾病的体验之间上有所区别。     

"以病人为中心"医疗服务模式的理念与发展

纵观20世纪医疗服务的发展历程,医疗服务的发展经历了“以疾病为中心”的传统医疗服务模式到“以病人为中心”的新的医疗服务模式的转变;目前,以“以病人为中心”的医疗服务模式已经成为我国现代医院改革与发展的主题。因此,在阐述医疗服务模式变革与发展的基础上,系统论述了“以病人为中心”的医疗服务模式的内涵与特点,新的理念、新的认识,也带来了新的希望,新的医疗服务模式将不断地改善与提高人们的健康状况与生活质量。     

Trauma-Informed Medical Care: Patient Response to a Primary Care Provider Communication Training

Trauma exposure predicts mental disorders and health outcomes; yet there is little training of primary care providers about trauma’s effects, and how to better interact with trauma survivors. This study adapted a theory-based approach to working with trauma survivors, Risking Connection, into a 6-hour CME course, Trauma-Informed Medical Care (TI-Med), to evaluate its feasibility and preliminary efficacy. We randomized four primary care sites to training or wait-list conditions; PCPs at wait-list sites were trained after reassessment. Primary care providers (PCPs) were Family Medicine residents (n = 17; 2 sites) or community physicians (n = 13; 2 sites). Outcomes reported here comprised a survey of 400 actual patients seen by the PCPs in the study. Patients, mostly minority, completed surveys before or after their provider received training. Patients rated PCPs significantly higher after training on a scale encompassing partnership issues. Breakdowns showed lower partnership scores for those with trauma or posttraumatic stress symptoms. Future studies will need to include more specific trauma-related outcomes. Nevertheless, this training is a promising initial approach to teaching trauma-informed communication skills to PCPs.     

Death in Hospital: The Place of Religion in the Care of the Patient

The reflections in this article are based on my experience over the past ten years as hospital chaplain of a large district general hospital within the UK National Health Service. I realize the limitations of this experience, but I hope that I may achieve some insights that have a wider application. I attempt to bring my hospital experience into a creative relationship with other aspects of my life, which include a commitment to Christian–Muslim dialogue, and a background of life and work in the Middle East, where I worked for the Anglican Church in Lebanon and Syria from 1973 until 1982.     

Impact of Genomic Counseling on Informed Decision-Making among ostensibly Healthy Individuals Seeking Personal Genome Sequencing: the HealthSeq Project

Personal genome sequencing is increasingly utilized by healthy individuals for predispositional screening and other applications. However, little is known about the impact of ‘genomic counseling’ on informed decision-making in this context. Our primary aim was to compare measures of participants’ informed decision-making before and after genomic counseling in the HealthSeq project, a longitudinal cohort study of individuals receiving personal results from whole genome sequencing (WGS). Our secondary aims were to assess the impact of the counseling on WGS knowledge and concerns, and to explore participants’ satisfaction with the counseling. Questionnaires were administered to participants (n = 35) before and after their pre-test genomic counseling appointment. Informed decision-making was measured using the Decisional Conflict Scale (DCS) and the Satisfaction with Decision Scale (SDS). DCS scores decreased after genomic counseling (mean: 11.34 before vs. 5.94 after; z = ?4.34, p < 0.001, r = 0.52), and SDS scores increased (mean: 27.91 vs. 29.06 respectively; z = 2.91, p = 0.004, r = 0.35). Satisfaction with counseling was high (mean (SD) = 26.91 (2.68), on a scale where 6 = low and 30 = high satisfaction). HealthSeq participants felt that their decision regarding receiving personal results from WGS was more informed after genomic counseling. Further research comparing the impact of different genomic counseling models is needed.