Evaluation of two Massive Open Online Courses (MOOCs) in genomic variant interpretation for the NHS workforce

Abstract Background The implementation of the National Genomic Medicine Service in the UK has increased patient access to germline genomic testing. Increased testing leads to more genetic diagnoses but does result in the identification of genomic variants of uncertain significance (VUS). The rigorou...

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Main Authors: Beth Coad, Katherine Joekes, Alicja Rudnicka, Amy Frost, Mark Robert Openshaw, Katrina Tatton-Brown, Katie Snape
Format: Article
Language:English
Published: BMC 2023-07-01
Series:BMC Medical Education
Subjects:
Online Access:https://doi.org/10.1186/s12909-023-04406-x
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author Beth Coad
Katherine Joekes
Alicja Rudnicka
Amy Frost
Mark Robert Openshaw
Katrina Tatton-Brown
Katie Snape
author_facet Beth Coad
Katherine Joekes
Alicja Rudnicka
Amy Frost
Mark Robert Openshaw
Katrina Tatton-Brown
Katie Snape
author_sort Beth Coad
collection DOAJ
description Abstract Background The implementation of the National Genomic Medicine Service in the UK has increased patient access to germline genomic testing. Increased testing leads to more genetic diagnoses but does result in the identification of genomic variants of uncertain significance (VUS). The rigorous process of interpreting these variants requires multi-disciplinary, highly trained healthcare professionals (HCPs). To meet this training need, we designed two Massive Open Online Courses (MOOCs) for HCPs involved in germline genomic testing pathways: Fundamental Principles (FP) and Inherited Cancer Susceptibility (ICS). Methods An evaluation cohort of HCPs involved in genomic testing were recruited, with additional data also available from anonymous self-registered learners to both MOOCs. Pre- and post-course surveys and in-course quizzes were used to assess learner satisfaction, confidence and knowledge gained in variant interpretation. In addition, granular feedback was collected on the complexity of the MOOCs to iteratively improve the resources. Results A cohort of 92 genomics HCPs, including clinical scientists, and non-genomics clinicians (clinicians working in specialties outside of genomics) participated in the evaluation cohort. Between baseline and follow-up, total confidence scores improved by 38% (15.2/40.0) (95% confidence interval [CI] 12.4–18.0) for the FP MOOC and 54% (18.9/34.9) (95%CI 15.5–22.5) for the ICS MOOC (p < 0.0001 for both). Of those who completed the knowledge assessment through six summative variant classification quizzes (V1–6), a mean of 79% of respondents classified the variants such that correct clinical management would be undertaken (FP: V1 (73/90) 81% Likely Pathogenic/Pathogenic [LP/P]; V2 (55/78) 70% VUS; V3 (59/75) 79% LP/P; V4 (62/72) 86% LP/LP. ICS: V5 (66/91) 73% VUS; V6 (76/88) 86% LP/P). A non-statistically significant higher attrition rate was seen amongst the non-genomics workforce when compared to genomics specialists for both courses. More participants from the non-genomics workforce rated the material as “Too Complex” (FP n = 2/7 [29%], ICS n = 1/5 [20%]) when compared to the specialist genomics workforce (FP n = 1/43 [2%], ICS n = 0/35 [0%]). Conclusions After completing one or both MOOCs, self-reported confidence in genomic variant interpretation significantly increased, and most respondents could correctly classify variants such that appropriate clinical management would be instigated. Genomics HCPs reported higher satisfaction with the level of content than the non-genomics clinicians. The MOOCs provided foundational knowledge and improved learner confidence, but should be adapted for different workforces to maximise the benefit for clinicians working in specialties outside of genetics.
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spelling doaj.art-508b698479e4471e875fc6b598fce4792023-07-30T11:18:15ZengBMCBMC Medical Education1472-69202023-07-0123111210.1186/s12909-023-04406-xEvaluation of two Massive Open Online Courses (MOOCs) in genomic variant interpretation for the NHS workforceBeth Coad0Katherine Joekes1Alicja Rudnicka2Amy Frost3Mark Robert Openshaw4Katrina Tatton-Brown5Katie Snape6St George’s University of LondonSt George’s University of LondonSt George’s University of LondonNational Genomics Education, NHS EnglandInstitute of Cancer and Genomics, University of BirminghamNational Genomics Education, NHS EnglandSt George’s University of LondonAbstract Background The implementation of the National Genomic Medicine Service in the UK has increased patient access to germline genomic testing. Increased testing leads to more genetic diagnoses but does result in the identification of genomic variants of uncertain significance (VUS). The rigorous process of interpreting these variants requires multi-disciplinary, highly trained healthcare professionals (HCPs). To meet this training need, we designed two Massive Open Online Courses (MOOCs) for HCPs involved in germline genomic testing pathways: Fundamental Principles (FP) and Inherited Cancer Susceptibility (ICS). Methods An evaluation cohort of HCPs involved in genomic testing were recruited, with additional data also available from anonymous self-registered learners to both MOOCs. Pre- and post-course surveys and in-course quizzes were used to assess learner satisfaction, confidence and knowledge gained in variant interpretation. In addition, granular feedback was collected on the complexity of the MOOCs to iteratively improve the resources. Results A cohort of 92 genomics HCPs, including clinical scientists, and non-genomics clinicians (clinicians working in specialties outside of genomics) participated in the evaluation cohort. Between baseline and follow-up, total confidence scores improved by 38% (15.2/40.0) (95% confidence interval [CI] 12.4–18.0) for the FP MOOC and 54% (18.9/34.9) (95%CI 15.5–22.5) for the ICS MOOC (p < 0.0001 for both). Of those who completed the knowledge assessment through six summative variant classification quizzes (V1–6), a mean of 79% of respondents classified the variants such that correct clinical management would be undertaken (FP: V1 (73/90) 81% Likely Pathogenic/Pathogenic [LP/P]; V2 (55/78) 70% VUS; V3 (59/75) 79% LP/P; V4 (62/72) 86% LP/LP. ICS: V5 (66/91) 73% VUS; V6 (76/88) 86% LP/P). A non-statistically significant higher attrition rate was seen amongst the non-genomics workforce when compared to genomics specialists for both courses. More participants from the non-genomics workforce rated the material as “Too Complex” (FP n = 2/7 [29%], ICS n = 1/5 [20%]) when compared to the specialist genomics workforce (FP n = 1/43 [2%], ICS n = 0/35 [0%]). Conclusions After completing one or both MOOCs, self-reported confidence in genomic variant interpretation significantly increased, and most respondents could correctly classify variants such that appropriate clinical management would be instigated. Genomics HCPs reported higher satisfaction with the level of content than the non-genomics clinicians. The MOOCs provided foundational knowledge and improved learner confidence, but should be adapted for different workforces to maximise the benefit for clinicians working in specialties outside of genetics.https://doi.org/10.1186/s12909-023-04406-xGenomics educationMOOCsOnline learningGenomic variantsCancer genomics
spellingShingle Beth Coad
Katherine Joekes
Alicja Rudnicka
Amy Frost
Mark Robert Openshaw
Katrina Tatton-Brown
Katie Snape
Evaluation of two Massive Open Online Courses (MOOCs) in genomic variant interpretation for the NHS workforce
BMC Medical Education
Genomics education
MOOCs
Online learning
Genomic variants
Cancer genomics
title Evaluation of two Massive Open Online Courses (MOOCs) in genomic variant interpretation for the NHS workforce
title_full Evaluation of two Massive Open Online Courses (MOOCs) in genomic variant interpretation for the NHS workforce
title_fullStr Evaluation of two Massive Open Online Courses (MOOCs) in genomic variant interpretation for the NHS workforce
title_full_unstemmed Evaluation of two Massive Open Online Courses (MOOCs) in genomic variant interpretation for the NHS workforce
title_short Evaluation of two Massive Open Online Courses (MOOCs) in genomic variant interpretation for the NHS workforce
title_sort evaluation of two massive open online courses moocs in genomic variant interpretation for the nhs workforce
topic Genomics education
MOOCs
Online learning
Genomic variants
Cancer genomics
url https://doi.org/10.1186/s12909-023-04406-x
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