Dataset Information

Introduction to Biochemical Genetics from the Clinical Laboratory Prospective: A Case-Based Discussion.

ABSTRACT:

Introduction

Inborn errors of metabolism (IEM) are individually rare, but their cumulative frequency is high. Most importantly, IEM are in the differential diagnosis for common clinical emergencies and childhood illnesses. Biochemical genetics (BCG) testing is used to diagnose IEM or follow-up with patients after treatment. A basic grasp of the strengths and limitations of biochemical testing is critical for clinicians to understand test results, identify when to seek a consultation with a specialist, or explain results to patients.

Methods

This resource is designed as an introduction to BCG testing for aminoacidopathies and urea cycle disorders, and includes eight cases. The resource was first developed for the Genetic Counseling Graduate Program at the University of Utah School of Medicine, and used in the last 2 years in small-group settings, where students were each engaged with one case (eight per session).

Results

Overall, students gave high ratings to the effectiveness of the examples used, and the interactive format encouraged students' questions. The resource has been tested with medical students and residents rotating through the Maternal Newborn Care Unit at the University Hospital. In this setting, a small-group case-based discussion was used. As expected, prior knowledge of IEM or BCG testing was low. Confidence in evaluating BCG testing after completing the learning activity improved.

Discussion

This resource facilitates the integration of specialized knowledge of IEM in a primary care-oriented setting. Genetics counseling students' feedback demonstrated the overall success of this activity in the specialized, genetics-oriented setting.

SUBMITTER: De Biase I

PROVIDER: S-EPMC6338164 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature

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Publications

Introduction to Biochemical Genetics from the Clinical Laboratory Prospective: A Case-Based Discussion.

De Biase Irene I Diaz-Ochu Margarita M Rindler Mary M Hobson-Rohrer Wendy L WL

MedEdPORTAL : the journal of teaching and learning resources 20170523

<h4>Introduction</h4>Inborn errors of metabolism (IEM) are individually rare, but their cumulative frequency is high. Most importantly, IEM are in the differential diagnosis for common clinical emergencies and childhood illnesses. Biochemical genetics (BCG) testing is used to diagnose IEM or follow-up with patients after treatment. A basic grasp of the strengths and limitations of biochemical testing is critical for clinicians to understand test results, identify when to seek a consultation with ...[more]

PMID: 30800788

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Project description:Deployment of highly effective artemisinin-based combination therapy for treating uncomplicated malaria calls for better targeting of malaria treatment to improve case management and minimize drug pressure for selecting resistant parasites. The Integrated Management of Malaria curriculum was developed to train multi-disciplinary teams of clinical, laboratory and health information assistants.Evaluation of training was conducted in nine health facilities that were Uganda Malaria Surveillance Programme (UMSP) sites. From December 2006 to June 2007, 194 health professionals attended a six-day course. One-hundred and one of 118 (86%) clinicians were observed during patient encounters by expert clinicians at baseline and during three follow-up visits approximately six weeks, 12 weeks and one year after the course. Experts used a standardized tool for children less than five years of age and similar tool for patients five or more years of age. Seventeen of 30 laboratory professionals (57%) were assessed for preparation of malaria blood smears and ability to interpret smear results of 30 quality control slides.Percentage of patients at baseline and first follow-up, respectively, with proper history-taking was 21% and 43%, thorough physical examination 18% and 56%, correct diagnosis 51% and 98%, treatment in compliance with national policy 42% and 86%, and appropriate patient education 17% and 83%. In estimates that adjusted for individual effects and a matched sample, relative risks were 1.86 (95% CI: 1.20,2.88) for history-taking, 2.66 (95%CI: 1.60,4.41) for physical examination, 1.77 (95%CI: 1.41,2.23) for diagnosis, 1.96 (95%CI: 1.46,2.63) for treatment, and 4.47 (95%CI: 2.68,7.46) for patient education. Results were similar for subsequent follow-up and in sub-samples stratified by patient age. Quality of malaria blood smear preparation improved from 21.6% at baseline to 67.3% at first follow-up (p < 0.008); sensitivity of interpretation of quality control slides increased from 48.6% to 70.6% (p < 0.199) and specificity increased from 72.1% to 77.2% (p < 0.736). Results were similar for subsequent follow-up, with the exception of a significant increase in specificity (94.2%, p < 0.036) at one year.A multi-disciplinary team training resulted in statistically significant improvements in clinical and laboratory skills. As a joint programme, the effects cannot be distinguished from UMSP activities, but lend support to long-term, on-going capacity-building and surveillance interventions.

Dataset Information

Introduction to Biochemical Genetics from the Clinical Laboratory Prospective: A Case-Based Discussion.

Introduction

Methods

Results

Discussion

Publications

Introduction to Biochemical Genetics from the Clinical Laboratory Prospective: A Case-Based Discussion.

Similar Datasets

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