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'Quality in, quality out', a stepwise approach to EBM for rare diseases promoted by MEN1.

ABSTRACT: Rare diseases pose specific challenges in the field of medical research to provide physicians with evidence based guidelines derived from studies with sufficient quality. An example of these rare diseases is multiple endocrine neoplasia type 1 (MEN1), which is an autosomal dominant endocrine tumor syndrome with an estimated occurrence rate of 2-3 per 100.000. For this complex disease, characterized by multiple endocrine tumors, it proves difficult to perform both adequate and feasible studies. The opinion of patients themselves is of utmost importance to identify the gaps in the evidence based medicine regarding clinical care. In the search for scientific answers to clinical research questions, the aim for best available evidence is obvious. Observational studies within patient cohorts, although prone to bias, seem the most feasible study design regarding the disease prevalence. Knowledge and adaptation to all types of bias is demanded in the strive for answers. Guided by our research on MEN1 patients, we elaborate on strategies to identify sufficient patients, to maximize and maintain patient enrollment and to standardize the data collection process. Preferably, data collection is performed prospectively, however, under certain conditions data storage in a longitudinal retrospective database with a disease-specific framework is suitable. Considering the global challenges on observational research on rare diseases, we propose a stepwise approach from clinical research questions to scientific answers.

SUBMITTER: van Beek DJ

PROVIDER: S-EPMC6215791 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature

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'Quality in, quality out', a stepwise approach to EBM for rare diseases promoted by MEN1.

van Beek Dirk-Jan DJ van Leeuwaarde Rachel S RS Pieterman Carolina Rc CR Vriens Menno R MR Valk Gerlof D GD

Endocrine connections 20180901

Rare diseases pose specific challenges in the field of medical research to provide physicians with evidence based guidelines derived from studies with sufficient quality. An example of these rare diseases is multiple endocrine neoplasia type 1 (MEN1), which is an autosomal dominant endocrine tumor syndrome with an estimated occurrence rate of 2-3 per 100.000. For this complex disease, characterized by multiple endocrine tumors, it proves difficult to perform both adequate and feasible studies. T ...[more]

PMID: 30352412

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Project description:BackgroundEvidence-based medicine (EBM) is the use of the current best evidence for patient care. Medical students should critically appraise the research evidence to help them during their clinical practice in the future. We conducted this study to assess the skills, terms and attitude toward EBM.MethodWe conducted a cross-sectional study for medical students from governmental universities. Students completed an online validated questionnaire consisting of several sections to assess skills, attitude and knowledge about terms related to EBM. We used a scale ranging from 1(strongly disagree) to 5(strongly agree) for the 11 questions assessing the attitude and a scale ranging from 1(Poor) to 5(advanced) for EBM skills.ResultsA total of 761 medical students with a mean age of 21.97 ± 1.64 participated in the study. 327 (43 %) of them were males. The most commonly used search engines were Google 690 (91 %) and Wikipedia 465 (61 %). Medical books 719 (94 %) and lecture notes 353 (46 %) were the most common sources for health information. The majority of students rated their skills related to EBM as average and below average for all questions (overall = 2.18 ± 0.8). Students rated their skills as poor (31 %) in locating professional literature, as average (34 %) in searching online databases, poor (42 %) in critical appraisal of a scientific publication reporting findings from clinical research and poor (36 %) in Critical appraisal of available scientific literature. Regarding attitude, the overall mean score was 2.83 ± 0.76. There is no significant difference in attitude score between students with or without EBM training (P = 0.2). The terms with the highest understanding were case-control study (45 %) and case report (44 %) for study design. Median (44 %) and sample size (43 %) for statistics. Incidence (46 %) and prevalence (44 %) for epidemiology.ConclusionsMedical students have a knowledge gap in skills and terms related to EBM and an average attitude towards EBM. The majority of them were using a nonscientific search engine to obtain medical information. There is a need to educate students about the proper steps for getting the scientific literature and EBM skills.

Project description:Background: The Rare Disease Research Partnership (RAinDRoP) was established in 2018 to bring together a wide variety of diverse voices in the rare disease community in Ireland and form a research partnership. This approach enabled clinicians, patients, carers and researchers to work together to identify top research priorities for rare diseases, which focused on a life-course perspective rather than a disease-specific need. Methods: A participatory multiple phase approach was used to identify research priorities for rare diseases. The research process involved three main phases: Phase I, Public Consultation Survey on Research in Rare Diseases in Ireland (PCSRRDI); Phase II, Research Prioritisation Workshop (RPW); Phase III, Follow-up Public Consultation and Prioritisation Survey (FWPCPS). Results: In total, 240 individuals completed the phase I PCSRRDI, which comprised of a cross-section of health care professionals, researchers and people living with rare diseases. One thousand and fifteen statements were collected, reflecting issues and shared challenges in rare diseases. A shortlisting step by step was used to identify any statements that had received a total score of above 50% into 10-12 researchable questions or statements per the theme for the phase II workshop. Phase II was focused on three main themes: (1) Route to Diagnosis, (2) Living with Rare Disease, (3) Integrated and Palliative Care. In total, 62 individuals attended the overall workshop; 42 participated in the prioritisation sessions. A cross-section of health care professionals, researchers and people living with rare diseases were engaged at each workshop. Seventy-five individuals completed the final phase III public ranking by priority responses, and they ranked the top 15 research priorities defined by the multi-stakeholders at the phase II consensus meeting. Conclusions: This study identified priorities for rare diseases research aimed at improving the health and wellbeing of people living with rare diseases.

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'Quality in, quality out', a stepwise approach to EBM for rare diseases promoted by MEN1.

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'Quality in, quality out', a stepwise approach to EBM for rare diseases promoted by MEN1.

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