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:BackgroundDue to racial, cultural, and linguistic marginalization, some populations experience disproportionate barriers to genetic testing in both clinical and research settings. It is difficult to track such disparities due to non-inclusive self-reported race and ethnicity categories within the electronic health record (EHR). Inclusion and access for all populations is critical to achieve health equity and to capture the full spectrum of rare genetic disease.ObjectiveWe aimed to create revised race and ethnicity categories. Additionally, we identified racial and ethnic under-representation amongst three cohorts: (1) the general Boston Children's Hospital patient population (general BCH), (2) the BCH patient population that underwent clinical genomic testing (clinical sequencing), and (3) Children's Rare Disease Cohort (CRDC) research initiative participants.Design and methodsRace and ethnicity data were collected from the EHRs of the general BCH, clinical sequencing, and CRDC cohorts. We constructed a single comprehensive set of race and ethnicity categories. EHR-based race and ethnicity variables were mapped within each cohort to the revised categories. Then, the numbers of patients within each revised race and ethnicity category were compared across cohorts.ResultsThere was a significantly lower percentage of Black or African American/African, non-Hispanic/non-Latine individuals in the CRDC cohort compared with the general BCH cohort, but there was no statistically significant difference between the CRDC and the clinical sequencing cohorts. There was a significantly lower percentage of multi-racial, Hispanic/Latine individuals in the CRDC cohort than the clinical sequencing cohort. White, non-Hispanic/non-Latine individuals were over-represented in the CRDC compared to the two other groups.ConclusionWe highlight underrepresentation of certain racial and ethnic populations in sequencing cohorts compared to the general hospital population. We propose a range of measures to address these disparities, to strive for equitable future precision medicine-based clinical care and for the benefit of the whole rare disease community.
| S-EPMC10445838 | biostudies-literature
Project description:Genetic variability is the main cause of phenotypic variation. Some variants may be associated with several diseases and can be used as risk biomarkers, identifying animals with higher susceptibility to develop the pathology. Genomic medicine uses this genetic information for risk calculation, clinical diagnosis and prognosis, allowing the implementation of more effective preventive strategies and/or personalized therapies. Periodontal disease (PD) is the inflammation of the periodontium induced mainly by bacterial plaque and is the leading cause of tooth loss. Microbial factors are responsible for the PD initiation; however, several studies support the genetic influence on the PD progression. The main purpose of the present publication is to highlight the main steps involved in the genomic medicine applied to veterinary patients, describing the flowchart from the characterization of the genetic variants to the identification of potential associations with specific clinical data. After investigating which genes might potentially be implicated in canine PD, the RANK gene, involved in the regulation of osteoclastogenesis, was selected to illustrate this approach. A case-control study was performed using DNA samples from a population of 90 dogs - 50 being healthy and 40 with PD. This analysis allowed for the discovery of four new intronic variations that were banked in GenBank (g.85A>G, g.151G>T, g.268A>G and g.492T>C). The results of this study are not intended to be applied exclusively to PD. On the contrary, this genetic information is intended to be used by other researchers as a foundation for the development of multiple applications in the veterinary clinical field.
| S-EPMC9638704 | 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:BackgroundOver the last few years, the concept of multidisciplinary pulmonary embolism response teams (PERTs) has emerged to encounter the increasing variety and complexity in managing acute pulmonary embolism (PE).PurposeTo investigate PERT's composition and added clinical value in a university center in Germany.MethodsOver 4 years (01/2019-11/2022), patients with confirmed PE were enrolled in a prospective single-center cohort study (PERT Mainz). We investigated the composition of PERT and compared, after propensity score matching, patients with acute PE before and after the initiation of PERT at our Medical University Centre. The primary outcome was in-hospital PE-related mortality.ResultsFrom 2019 to 2022, 88 patients with acute PE with a PERT decision were registered. Of those, 13 (14.8%) patients died during the in-hospital stay. Patients evaluated by a PERT had a median age of 68; 48.9% were females, and 21.7% suffered from malignancy. Right ventricular dysfunction was present in 76.1% of all patients. In total, 42.0% were classified as intermediate-high-risk PE and 11.4% as high-risk PE. First PERT contact mainly originated from emergency departments (33.3%) and intensive care units (30.0%), followed by chest pain units (21.3%) and regular wards (12.0%). The participation rate of medical specialties demonstrated that cardiologists (100%) or cardiac/vascular surgeons (98.6%) were included in almost all PERT consultations, followed by radiologists (95.9%) and anesthesiologists (87.8%). Compared to the PERT era, more patients in the pre-PERT era were classified as simplified pulmonary embolism severity index (sPESI) ≥ 1 (78.4% vs 71.6%) and as high-risk PE according to ESC 2019 guidelines (18.2% vs. 11.4%). In the pre-PERT era, low- and intermediate-low patients with PE received more frequently advanced reperfusion therapies such as systemic thrombolysis or surgical embolectomy compared to the PERT era (10.7% vs. 2.5%). Patients in the pre-PERT were found to have a considerably higher all-cause mortality and PE-related mortality rate (31.8% vs. 14.8%) compared to patients in the PERT era (22.7% vs. 13.6%). After propensity matching (1:1) by including parameters as age, sex, sPESI, and ESC risk classes, univariate regression analyses demonstrated that the PE management based on a PERT decision was associated with lower risk of all-cause mortality (OR, 0.37 [95%CI 0.18-0.77]; p = 0.009). For PE-related mortality, a tendency for reduction was observed (OR, 0.54 [95%CI 0.24-1.18]; p = 0.121).ConclusionPERT implementation was associated with a lower risk of all-cause mortality rate in patients with acute PE. Large prospective studies are needed further to explore the impact of PERTs on clinical outcomes.
| S-EPMC10954947 | biostudies-literature