Introducing extended consultations for patients with severe mental illness in general practice: Results from the SOFIA feasibility study.

BACKGROUND: People with a severe mental illness (SMI) have shorter life expectancy and poorer quality of life compared to the general population. Most years lost are due to cardiovascular disease, respiratory disease, and various types of cancer. We co-designed an intervention to mitigate this health problem with key stakeholders in the area, which centred on an extended consultations for people with SMI in general practice. This study aimed to1) investigate general practitioners' (GPs) experience of the feasibility of introducing extended consultations for patients with SMI, 2) assess the clinical content of extended consultations and how these were experienced by patients, and 3) investigate the feasibility of identification, eligibility screening, and recruitment of patients with SMI. METHODS: The study was a one-armed feasibility study. We planned that seven general practices in northern Denmark would introduce extended consultations with their patients with SMI for 6 months. Patients with SMI were identified using practice medical records and screened for eligibility by the patients' GP. Data were collected using case report forms filled out by practice personnel and via qualitative methods, including observations of consultations, individual semi-structured interviews, a focus group with GPs, and informal conversations with patients and general practice staff. RESULTS: Five general practices employing seven GPs participated in the study, which was terminated 3 ½ month ahead of schedule due to the COVID-19 pandemic. General practices attempted to contact 57 patients with SMI. Of these, 38 patients (67%) attended an extended consultation, which led to changes in the somatic health care plan for 82% of patients. Conduct of the extended consultations varied between GPs and diverged from the intended conduct. Nonetheless, GPs found the extended consultations feasible and, in most cases, beneficial for the patient group. In interviews, most patients recounted the extended consultation as beneficial. DISCUSSION: Our findings suggest that it is feasible to introduce extended consultations for patients with SMI in general practice, which were also found to be well-suited for eliciting patients' values and preferences. Larger studies with a longer follow-up period could help to assess the long-term effects and the best implementation strategies of these consultations.

The G213D variant in Nav1.5 alters sodium current and causes an arrhythmogenic phenotype resulting in a multifocal ectopic Purkinje-related premature contraction phenotype in human-induced pluripotent stem cell-derived cardiomyocytes.

AIMS: Variants in SCN5A encoding Nav1.5 are associated with cardiac arrhythmias. We aimed to determine the mechanism by which c.638G>A in SCNA5 resulting in p.Gly213Asp (G213D) in Nav1.5 altered Na+ channel function and how flecainide corrected the defect in a family with multifocal ectopic Purkinje-related premature contractions (MEPPC)-like syndrome. METHODS AND RESULTS: Five patients carrying the G213D variant were treated with flecainide. Gating pore currents were evaluated in Xenopus laevis oocytes. The 638G>A SCN5A variant was introduced to human-induced pluripotent stem cell (hiPSC) by CRISPR-Cas9 gene editing and subsequently differentiated to cardiomyocytes (hiPSC-CM). Action potentials and sodium currents were measured in the absence and presence of flecainide. Ca2+ transients were measured by confocal microscopy. The five patients exhibited premature atrial and ventricular contractions which were suppressed by flecainide treatment. G213D induced gating pore current at potentials negative to -50 mV. Voltage-clamp analysis in hiPSC-CM revealed the activation threshold of INa was shifted in the hyperpolarizing direction resulting in a larger INa window current. The G213D hiPSC-CMs had faster beating rates compared with wild-type and frequently showed Ca2+ waves and alternans. Flecainide applied to G213D hiPSC-CMs decreased window current by shifting the steady-state inactivation curve and slowed the beating rate. CONCLUSION: The G213D variant in Nav1.5 induced gating pore currents and increased window current. The changes in INa resulted in a faster beating rate and Ca2+ transient dysfunction. Flecainide decreased window current and inhibited INa, which is likely responsible for the therapeutic effectiveness of flecainide in MEPPC patients carrying the G213D variant.

The SOFIA pilot trial: a cluster-randomized trial of coordinated, co-produced care to reduce mortality and improve quality of life in people with severe mental illness in the general practice setting.

BACKGROUND: People with severe mental illness (SMI) have an increased risk of premature mortality, predominantly due to somatic health conditions. Evidence indicates that primary and tertiary prevention and improved treatment of somatic conditions in patients with SMI could reduce this excess mortality. This paper reports a protocol designed to evaluate the feasibility of a coordinated co-produced care program (SOFIA model, a Danish acronym for Severe Mental Illness and Physical Health in General Practice) in the general practice setting to reduce mortality and improve quality of life in patients with severe mental illness. METHODS: The SOFIA pilot trial is designed as a cluster randomized controlled trial targeting general practices in two regions in Denmark. We aim to include 12 practices, each of which is instructed to recruit up to 15 community-dwelling patients aged 18 and older with SMI. Practices will be randomized by a computer in a ratio of 2:1 to deliver a coordinated care program or usual care during a 6-month study period. A randomized algorithm is used to perform randomization. The coordinated care program includes educational training of general practitioners and their clinical staff educational training of general practitioners and their clinical staff, which covers clinical and diagnostic management and focus on patient-centered care of this patient group, after which general practitioners will provide a prolonged consultation focusing on individual needs and preferences of the patient with SMI and a follow-up plan if indicated. The outcomes will be parameters of the feasibility of the intervention and trial methods and will be assessed quantitatively and qualitatively. Assessments of the outcome parameters will be administered at baseline, throughout, and at end of the study period. DISCUSSION: If necessary the intervention will be revised based on results from this study. If delivery of the intervention, either in its current form or after revision, is considered feasible, a future, definitive trial to determine the effectiveness of the intervention in reducing mortality and improving quality of life in patients with SMI can take place. Successful implementation of the intervention would imply preliminary promise for addressing health inequities in patients with SMI. TRIAL REGISTRATION: The trial was registered in Clinical Trials as of November 5, 2020, with registration number NCT04618250 . Protocol version: January 22, 2021; original version.

Genetic Protection Modifications: Moving Beyond the Binary Distinction Between Therapy and Enhancement for Human Genome Editing.

The current debate and policy surrounding the use of genome editing in humans typically relies on a binary distinction between therapy and human enhancement. Here, we argue that this dichotomy fails to take into account perhaps the most significant potential uses of CRISPR-Cas9 genome editing in humans. We argue that genetic treatment of sporadic Alzheimer's disease, breast and ovarian cancer predisposing BRCA1/2 mutations, and the introduction of human immunodeficiency virus resistance in humans should be considered within a new category of genetic protection treatments. We suggest that if this category is not introduced, life-altering research might be unnecessarily limited by current or future policy. Otherwise ad hoc decisions might be made, which introduce a risk of unforeseen moral costs, and might overlook or fail to address some important opportunities.

Multimorbidity and mortality: A 15-year longitudinal registry-based nationwide Danish population study.

BACKGROUND: Knowledge about prevalent and deadly combinations of multimorbidity is needed. OBJECTIVE: To determine the nationwide prevalence of multimorbidity and estimate mortality for the most prevalent combinations of one to five diagnosis groups. Furthermore, to assess the excess mortality of the combination of two groups compared to the product of mortality associated with the single groups. DESIGN: A prospective cohort study using Danish registries and including 3.986.209 people aged ≥18 years on 1 January, 2000. Multimorbidity was defined as having diagnoses from at least 2 of 10 diagnosis groups: lung, musculoskeletal, endocrine, mental, cancer, neurological, gastrointestinal, cardiovascular, kidney, and sensory organs. Logistic regression (odds ratios, ORs) and ratio of ORs (ROR) were used to study mortality and excess mortality. RESULTS: Prevalence of multimorbidity was 7.1% in the Danish population. The most prevalent combination was the musculoskeletal-cardiovascular (0.4%), which had double the mortality (OR, 2.03) compared to persons not belonging to any of the diagnosis groups but showed no excess mortality (ROR, 0.97). The neurological-cancer combination had the highest mortality (OR, 6.35), was less prevalent (0.07%), and had no excess mortality (ROR, 0.94). Cardiovascular-lung was moderately prevalent (0.2%), had high mortality (OR, 5.75), and had excess mortality (ROR, 1.18). Endocrine-kidney had high excess mortality (ROR, 1.81) and cancer-mental had low excess mortality (ROR, 0.66). Mortality increased with the number of groups. CONCLUSIONS: All combinations had increased mortality risk with some of them having up to a six-fold increased risk. Mortality increased with the number of diagnosis groups. Most combinations did not increase mortality above that expected, that is, were additive rather than synergistic.

The consultation as an interpretive dialogue about the child's health needs.

BACKGROUND: Though uniquely placed in the health care system, GPs only become aware of a small number of children with behavioural and emotional problems. Research evaluating the challenges and barriers in general practice for identifying children with problems is therefore important. OBJECTIVES: To identify and articulate GPs' experiences and perceptions of the GP-parent dialogue about children's health problems, in order to broaden our understanding of the challenges inherent to the dialogue. METHODS: The GPs' experiences and recollections were explored in a qualitative study comprising four focus group discussions and nine individual interviews. The focus of study was to explore GP consultations with children 0-5 years of age and their parent/s. RESULTS: Though expressing a family-focused approach to the child consultation, the GPs often did not succeed in making the consultation family focused. The analysis revealed that the GPs often were 'stuck' in the traditional role of expert and this made it difficult for them to explore the child's well-being. The consultation became more family focused when the GPs moved away from the role of expert. The GPs experienced that by sharing their uncertainty with parents, they often got more insight into the child's everyday life and family circumstances. CONCLUSION: The study indicates that through open reflective dialogue the GP is able to assess the child and strengthen mutual trust in the doctor-parent relationship to the benefit of children with special needs.

Role of biographical experience and bodily sensations in patients' adaptation to hypertension.

OBJECTIVE: To explore patients' adaptation to hypertension and to describe its impact on their sense of body, biographical experience, approach to life and daily activities. METHODS: A qualitative interview study with nine men and eight women (age: 35-50 years) with hypertension from four general practices in Denmark. The informants differed in type and duration of treatment. RESULTS: Adaptation to hypertension was influenced by the patients' biographical experiences and involved changes in body perception. The process affected patients' daily activities and they actively tested their physical abilities. Patients gradually adopted behaviour and attitudes to reduce their risk of cardiovascular disease. CONCLUSION: A diagnosis of hypertension constitutes a biographical disruption and has an impact on daily life. Patients' adaptation to hypertension combines biographical and bodily experiences. PRACTICE IMPLICATIONS: Attention to patients' biographies and images of hypertension is an important element of hypertensive treatment.

The doctor as focus group moderator--shifting roles and negotiating positions in health research.

BACKGROUND: Any research is inextricably entwined with the researcher's positions adopted while collecting data. This represents an important challenge to focus group moderators whose positions within the group influence data collection. This situation is particularly important in health research where moderators are doctors. OBJECTIVES: This study explores the moderator's social interaction with the group, in particular the moderator's position and how it affects data collection, the research process and knowledge production. METHODS: A qualitative study exploring group dynamics and the moderator's positions in focus group discussions, in particular the interaction between the moderator's position and her role as a doctor. RESULTS: The social construction and negotiation of the doctor's position depended both on the participants' view of the moderator and on the moderator's situational response. The moderator dealt with the participants' expectations and alternated between different positions: those she chose for herself and those chosen for her by the participants. Adoption of an active strategy outlining the moderator's position clarified the framework of data collection. CONCLUSIONS: Doctors using focus groups as research tool to gain insight into people's ideas about illness must be conscious about how their medical background influences their positions during data collection. The focus group moderator must balance between letting participants discuss the topics without being disturbed and actively intervening in the discussion to clarify the process. The researcher has to set the boundaries and guidelines as to how the research is conducted.

"In really great danger..." The concept of risk in general practice.

The language of risk has many meanings, and in this article we demonstrate a discrepancy between individually perceived risk and the medical understanding of risk as understood and communicated by general practitioners (GPs). Risk is experienced and interpreted by people in a cultural context, i.e. the same objective risk can be perceived in many different ways and given a different meaning in daily life. GPs' evaluation of risk is made on the basis of our epidemiological knowledge, the medical culture of risk perception and the GP's personal experience and interpretation. The theoretical focus in the article is a synthesis of two theories: patient-centred general practice and theory based in anthropology about risk as culturally and socially constructed. We use empirical data from a qualitative study to illuminate the discussion.

Reflexivity--a strategy for a patient-centred approach in general practice.

Reflexivity as a strategy in general practice can be used to implement a patient-centred approach in the consultation. General practice has long represented a tradition attempting to integrate both illness and disease. For the GP, it is natural to focus on the patient's whole situation, and the GP's experience with patients is often based on a long-term relationship. Reflexivity implies having a self-conscious account of the production of knowledge as it is being produced. We believe that GPs can gain access to additional knowledge by consciously using reflexivity as a strategy in the consultation. In the present article, we discuss reflexivity in relation to the notions of empathy, personal experience and self-knowledge. By using reflexivity in order to rely on personal experience, the GP can gain access to patients' understanding of their health. Reflexivity can be a valuable concept for the GP in patient-centred medicine and can contribute to bridging the gap between the patient's perspective and the doctor's understanding of the patient's health.