Skip to main content
Fig. 3 | Genome Medicine

Fig. 3

From: Application of a framework to guide genetic testing communication across clinical indications

Fig. 3

CADRe pre- and post-test rubric classifications by indication. Each bin represents the classifications for a communication recommendation (horizontal axis) and indication (vertical axis) and contains the circles of individual curations for a gene, condition, or testing modality. Standard indications classified were as follows: (1) confirmatory testing: individual with a clinical diagnosis of a genetic condition where genetic testing was expected to be confirmatory; (2) suggestive personal history: individual with a personal history suggestive of a genetic condition; (3) suggestive family history: unaffected individual with a suggestive family history in which the proband was not known to have undergone genetic testing; and (4) familial variant: unaffected individual with a known P/LP variant in a family member (e.g., predictive or cascade testing). Condition-specific indications were added or removed as applicable. ADD, autosomal dominant dementia; ALS, amyotrophic lateral sclerosis; ApoE, ApoE genotyping; c9orf, c9orf mediated FTD/ALS; ES, exome sequencing; Fabry M, Fabry testing in individual with male sex due to a chromosomal complement of XY, XYY, or other that causes risk for Fabry; FH, familial hypercholesterolemia; FTD, frontotemporal dementia; HD, Huntington Disease; LE HCM, limited evidence hypertrophic cardiomyopathy; MAP, MUTYH-associated polyposis; MHS, malignant hyperthermia susceptibility; ME HCM, moderate evidence hypertrophic cardiomyopathy

Back to article page