Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study.
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ABSTRACT:
SUBMITTER: Ormondroyd E
PROVIDER: S-EPMC5427178 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Carcinoid heart disease (CHD) is a consequence of valvular fibrosis triggered by vasoactive substances released from neuroendocrine tumours, classically in those with metastatic disease and resulting in tricuspid and pulmonary valve failure. CHD affects 1 in 5 patients who have carcinoid syndrome (CS). Valve leaflets become thickened, retracted and immobile, resulting most often in regurgitation that causes right ventricular dilatation and ultimately, right heart failure. The development of CHD heralds a significantly worse prognosis than those patients with CS who do not develop valvular disease. Diagnosis requires a low threshold of suspicion in all patients with CS, since symptoms occur late in the disease process and clinical signs are difficult to elicit. As a result, routine screening is recommended using the biomarker, N-terminal pro-natriuretic peptide, and regular echocardiography is then required for diagnosis and follow-up. There is no direct medical therapy for CHD, but the focus of non-surgical care is to control CS symptoms, reduce tumour load and decrease hormone levels. Valve surgery improves long-term outcome for those with severe disease compared to medical management, although peri-operative mortality remains at between 10-20% in experienced centres. Therefore, care needs to be multidisciplinary at all stages, with clear discussion with the patient and between teams to ensure optimum outcome for these often-complex patients.
| S-EPMC6933832 | biostudies-literature
Project description:BackgroundA multi-disciplinary approach to promote engagement, inform decision-making and support clinicians and patients is increasingly advocated to realise the potential of genome-scale sequencing in the clinic for patient benefit. Here we describe the results of establishing a genomic medicine multi-disciplinary team (GM-MDT) for case selection, processing, interpretation and return of results.MethodsWe report a consecutive case series of 132 patients (involving 10 medical specialties with 43.2% cases having a neurological disorder) undergoing exome sequencing over a 10-month period following the establishment of the GM-MDT in a UK NHS tertiary referral hospital. The costs of running the MDT are also reported.ResultsIn total 76 cases underwent exome sequencing following triage by the GM-MDT with a clinically reportable molecular diagnosis in 24 (31.6%). GM-MDT composition, operation and rationale for whether to proceed to sequencing are described, together with the health economics (cost per case for the GM-MDT was £399.61), the utility and informativeness of exome sequencing for molecular diagnosis in a range of traits, the impact of choice of sequencing strategy on molecular diagnostic rates and challenge of defining pathogenic variants. In 5 cases (6.6%), an alternative clinical diagnosis was indicated by sequencing results. Examples were also found where findings from initial genetic testing were reconsidered in the light of exome sequencing including TP63 and PRKAG2 (detection of a partial exon deletion and a mosaic missense pathogenic variant respectively); together with tissue-specific mosaicism involving a cytogenetic abnormality following a normal prenatal array comparative genomic hybridization.ConclusionsThis consecutive case series describes the results and experience of a multidisciplinary team format that was found to promote engagement across specialties and facilitate return of results to the responsible clinicians.
| S-EPMC6659244 | biostudies-literature
Project description:BackgroundAlcohol cessation improves mortality in alcohol-associated liver disease (ALD), but access to treatment is limited. To address this gap, implementation and early feasibility and outcomes of a multidisciplinary ALD clinic are described.MethodsThe clinic comprised a hepatologist, psychiatrist, psychologist, nurse, and social worker. Patients included those with alcohol-associated cirrhosis or acute alcoholic hepatitis who were not in the transplant evaluation process, who had less than 6 months' sobriety and willingness to engage in alcohol use treatment. Psychosocial metrics in addition to routine hepatic function labs were collected. Treatment plans were tailored based on patient preferences and needs after multidisciplinary discussion.Results89 patients were referred from both inpatient and outpatient settings, with 51 seen during the initial year. 38 remained active in clinic (4 died, 6 discharged, 3 moved to transplant clinic). 55% were women, 88% were white, 61% had private insurance. 49% had alcoholic hepatitis. 71% were decompensated. 80% had severe alcohol use disorder (AUD) and 84% had at least 1 comorbid psychiatric or substance use disorder. 63% chose one-on-one AUD treatment, 57% were prescribed relapse prevention medications. Mean MELD-Na score improved from baseline of 14 (SD 6.6) to 11.3 at 6 months (p=0.01). Hospital utilization significantly declined when comparing 6 months before to 6 months after initial visit (emergency department visits: 0.51 to 0.20 per person-month; inpatient admission: 0.34 to 0.14 per person-month; (β= -0.89, 95% CI -1.18 to -0.60).ConclusionsA multidisciplinary ALD clinic was feasible with encouraging early outcomes. Further research should explore ways to expand this model and increase clinic capacity.
| S-EPMC8478703 | biostudies-literature
Project description:National virtual multidisciplinary team meetings have been established in Swedish cancer care in response to centralized treatment of rare cancers. Though national meetings grant access to a large multidisciplinary network, we hypothesized that video-based meetings may challenge participants' contributions to the case discussions. We investigated participants' views and used observational tools to assess contributions from various health professionals during the multidisciplinary team meetings. Data on participants' views were collected using an electronic survey distributed to participants in six national multidisciplinary team meetings for rare cancers. Data from observations were obtained from the multidisciplinary team meetings for penile cancer, anal cancer, and vulvar cancer using the standardized observational tools Meeting Observational Tool and Metric of Decision-Making that assess multidisciplinary team meeting functionality and participants' contributions to the case discussions. Participants overall rated the multidisciplinary team meetings favorably with high scores for development of individual competence and team competence. Lower scores applied to multidisciplinary team meeting technology, principles for communicating treatment recommendations, and guidelines for evaluating the meetings. Observational assessment resulted in high scores for case histories, leadership, and teamwork, whereas patient-centered care and involvement of care professionals received low scores. National virtual multidisciplinary team meetings are feasible and receive positive ratings by the participants. Case discussions cover medical perspectives well, whereas patient-centered aspects achieve less attention. Based on these findings, we discuss factors to consider to further improve treatment recommendations from national multidisciplinary team meetings.
| S-EPMC6506921 | biostudies-literature
Project description:ObjectiveTo elicit expert views to define the aims, optimal design, format and function of an inflammatory bowel disease (IBD) multidisciplinary team (MDT) with the overall purpose of enhancing the quality of MDT-driven care within an IBD service provision.DesignThis study was a multicentre, prospective, qualitative study using a standard semistructured interview methodology.ParticipantsA multidisciplinary sample of 28 semistructured interviews of which there are six consultant colorectal surgeons, six IBD nurse specialists, seven consultant gastroenterologists, five consultant radiologists and four consultant histopathologists.SettingParticipants were recruited from 10 hospitals, which were a mixture of community hospitals and specialist IBD centres between June and October 2013.ResultsExperts argued that the main goal of MDT-driven IBD care is to improve patient outcomes via sharing collective expertise in a formalised manner. Themes regarding the necessary requirements for an IBD MDT to occur included good attendance, proactive contribution, a need to define core members and appropriate and functional computer facilities. Emergent themes regarding the logistics of an effective IBD MDT included an eligibility criterion for case selection and discussion and appropriate scheduling. Themes regarding the overall design of the IBD MDT included a 'hub-and-spoke' model versus a 'single-centre' model.ConclusionsDefining key elements for an optimal design format for the IBD MDT is necessary to ensure quality of care and reduce variation in care standards. This study has produced a set of expert-based standards that can be used to structure the IBD MDT. These standards now require larger scale validation and consensus prior to becoming a practical guideline for the management of IBD care.
| S-EPMC5369592 | biostudies-literature
Project description:BACKGROUND:Multidisciplinary teams (MDTs) are an integral component in the delivery of health care. This is particularly evident in the delivery of cancer care, where multidisciplinary teams are internationally recognized as the preferred method for service delivery. The use of health information systems and technology are key enabling factors for building the capacity of MDTs to engage in improvement and implementation projects but there is scant research on how MDTs make use of technology and information systems or the kinds of systems needed for them to undertake improvement and implementation research. This paper reports findings on how seven MDTs in cancer care utilized technological and information systems and the barriers and enabling factors that impacted on their uptake. METHODS:Seven multidisciplinary teams from two large metropolitan hospitals participated in the study. Qualitative methods including structured observations and semi structured interviews that explored how teams engaged in research and improvement activities were utilized. Participants were also observed and interviewed in relation to their use of data and health information systems. Findings were subject to content analysis and key themes were identified. Interviews were transcribed and de-identified and key themes were subsequently discussed with participants to allow for member checking and further clarification of findings. RESULTS:A total of 43 MDT meetings across seven tumor streams were observed. Of these, observation notes from 13 meetings contained direct references to emerging technologies and health information systems. Findings from 15 semi-structured interviews were also analyzed in relation to how MDTs used technology in weekly meetings, and the perceived impact of technology. Three broad themes emerged: (1) methods for data collection and use by MDTs, (2) the impact of technology on the MDT meeting environment, and (3) the impact of technology and information systems on clinical decision making. CONCLUSION:The study demonstrates that real time data collection and imaging may improve patient centered care coordination. However, ICTs can be used sub-optimally by teams. We therefore urge additional research to identify the enabling factors that support better collection and use of outcome data from ICT.
| S-EPMC6001028 | biostudies-literature
Project description:BackgroundEarly mobility is underutilized in critical care.ObjectiveDescribe multidisciplinary intensive care unit (ICU) providers beliefs about the conduct of early mobility during critical illness.MethodsA 7-item elicitation survey was administered to a multidisciplinary sample of ICU team members. We conducted independent thematic analysis of n = 95 surveys.ResultsAnalysis resulted in three themes: immediate risk vs. long-term reward conflict, nurse is the initiator and coordinator of early mobilization, and situational factors. Staffing was the primary facilitator and barrier to early mobility. Enablers included protection from complications of hospitalization, reduced hospital length of stay, and improved patient morale. Barriers strongly revolved around team member risk aversion (e.g., falls, hemodynamic instability, line dislodgment). Nurses were equally identified as positive and negative referents for early mobility.ConclusionsStrong positive and negative attitudinal beliefs were elicited. Early mobility is a protective behavior that requires sufficient numbers of trained staff and equipment.
| S-EPMC7738426 | biostudies-literature
Project description:On March 29th 2020, 97,689 cases of COVID-19 have been diagnosed only in Italy, with 73,880 actually positive cases, a daily increase of 3815 cases, 27,386 hospitalized and 3906 patients in intensive care units, causing a total of 10,779 known deaths. In all urological departments, quickly inpatient and outpatient services have been significantly reduced. Even in this COVID-19 situation, urological neoplasm care must go on, but significant changes need to be made in the way some care is delivered. We compared diagnostic and therapeutic elective procedures requested and performed for PC management from our multidisciplinary team (MDT) during 1 month activity in the highest national level of COVID-19 infection (March 2020) and under restrictions for all the population, with the management performed in a no-COVID-19 month (March 2019) 1 year ago. The only management that did not received a significant reduction are medical therapies for advanced hormone sensitive (HS) or castration resistant (CR) PC. We describe our MDT identifications of elective undeferrable PC management in this COVID-19 time. These suggestions have been considered for a country (ITALY) under a rapid increase of COVID-19 cases and complications, but in a region with an actual lower impact (2914 actual positive and 1079 hospitalized cases) from the infection and in an hospital not completely converted to COVID-19 management. Indications should be different and restricted only to emergencies on the basis of COVID-19 pandemic situation and hospital involvement.
| S-EPMC7233331 | biostudies-literature
Project description:BackgroundWhile the home is the most common setting for the provision of palliative care in Australia, a common problem encountered here is the inability of patient/carers to manage medications, which can lead to misadventure and hospitalisation. This can be averted through detection and resolution of drug related problems (DRPs) by a pharmacist; however, they are rarely included as members of the palliative care team. The aim of this study was to pilot a model of care that supports the role of a pharmacist in a community palliative care team. A component of the study was to develop a cost-effective model for continuing the inclusion of a pharmacist within a community palliative care service.MethodsThe study was undertaken (February March 2009-June 2010) in three phases. Development (Phase 1) involved a literature review; scoping the pharmacist's role; creating tools for recording DRPs and interventions, a communication and education strategy, a care pathway and evidence based patient information. These were then implemented in Phase 2. Evaluation (Phase 3) of the impact of the pharmacist's role from the perspectives of team members was undertaken using an online survey and focus group. Impact on clinical outcomes was determined by the number of patients screened to assess their risk of medication misadventure, as well as the number of medication reviews and interventions performed to resolve DRPs.ResultsThe pharmacist screened most patients (88.4%, 373/422) referred to the palliative care service to assess their risk of medication misadventure, and undertook 52 home visits. Medication reviews were commonly conducted at the majority of home visits (88%, 46/52), and a variety of DRPs (113) were detected at this point, the most common being "patient requests drug information" (25%, 28/113) and "condition not adequately treated" (22%, 25/113). The pharmacist made 120 recommendations in relation to her interventions.Fifty percent of online survey respondents (10/20) had interacted 10 or more times with the pharmacist for advice. All felt that the pharmacist's role was helpful, improving their knowledge of the different medications used in palliative care. The six team members who participated in the focus group indicated that there were several benefits of the pharmacist's contributions towards medication screening and review.ConclusionsThe inclusion of a pharmacist in a community palliative care team lead to an increase in the medication-related knowledge and skills of its members, improved patients' medication management, and minimised related errors. The model of care created can potentially be duplicated by other palliative care services, although its cost-effectiveness was unable to be accurately tested within the study.
| S-EPMC3215169 | biostudies-literature
Project description:"Genomic medicine" refers to the diagnosis, optimized management, and treatment of disease--as well as screening, counseling, and disease gene identification--in the context of information provided by an individual patient's personal genome. Genomic medicine, to some extent synonymous with "personalized medicine," has been made possible by recent advances in genome technologies. Genomic medicine represents a new approach to health care and disease management that attempts to optimize the care of a patient based upon information gleaned from his or her personal genome sequence. In this review, we describe recent progress in genomic medicine as it relates to neurological disease. Many neurological disorders either segregate as Mendelian phenotypes or occur sporadically in association with a new mutation in a single gene. Heritability also contributes to other neurological conditions that appear to exhibit more complex genetics. In addition to discussing current knowledge in this field, we offer suggestions for maximizing the utility of genomic information in clinical practice as the field of genomic medicine unfolds.
| S-EPMC3133694 | biostudies-other