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

BMC Medical Education

Table 2 Breakdown of variant classifications given by learners in course exercises

Course	Fundamental Principles (FP)
Variant	V1: FOXG1 (NM_005249.4) c.695A > G p.(Asn232Ser)					V2: NANS (NM_018946.4) c.452G > A p.(Arg151His)					V3: WDR26 (NM_025160.6) c.490C > T p.(Arg164Ter)					V4: REEP1 (NM_022912.2) c.471del p.(Thr158fs)
No. of learners	90					78					75					72
Variant classification	B	LB	VUS	LP	P	B	LB	VUS	LP	P	B	LB	VUS	LP^a	P	B	LB	VUS	LP	P
No. of learners	2.2% (2)	3.3% (3)	13.3% (12)	71.1% (64)	10.0% (9)	2.6% (2)	11.5% (9)	70.5% (55)	12.8% (10)	2.6% (2)	2.7% (2)	6.7% (5)	12.0% (9)	46.7% (35)	32.0% (24)	0.0% (0)	5.6% (4)	8.3% (6)	65.3% (47)	20.8% (15)
Course	Inherited Cancer Susceptibility (ICS)
Variant	V5: CSG123 (NM_000045.6) c.786A > G p.(Thr262Ala)^b					V6: MLH1 (NM_000249.3) c.122A > G p.(Asp41Gly)					V7: BRCA2 (NM_000059.4) c.8351G > A p.(Arg2784Gln)
No. of learners	91					88					83
Variant classification	B	LB	VUS	LP	P	B	LB	VUS	LP	P	B		LB		VUS		LP ^c		P
No. of learners	3.3% (3)	8.8% (8)	72.5% (66)	13.2% (12)	2.2% (2)	2.3% (2)	4.5% (4)	6.8% (6)	18.2% (16)	68.2% (60)	6.0% (5)		3.6% (3)		24.1% (20)		63.9% (53)		2.4% (2)

B Benign, LB Likely Benign, VUS Variant of Uncertain Significance, LP Likely Pathogenic, P Pathogenic Correct classifications are in bold
These data were anonymous and included learners taking part in the MOOCs who were not part of the evaluation cohort
^a Likely Pathogenic would be the correct classification under ACMG criteria alone, however, Pathogenic is correct as per ACGS adaptions
^b Variant fabricated as a pedagogical device to scaffold learning
^c With the information provided in the exercise, this was the appropriate classification, however, with broader data, VUS would be the correct final classification

ISSN: 1472-6920