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. 2019 May 16;104(6):1088–1096. doi: 10.1016/j.ajhg.2019.04.006

Table 2.

Intervention Sub-domains and Concepts

Sub-domains Concepts
Genomics-informed intervention components type: of genetic & genomic testing, sequencing
purpose: to evaluate/inform risk assessment, diagnosis, therapy
disclosure of results: how and by whom
education: of individuals receiving care, families, clinicians
Intervention characteristics cost, evidence, complexity
Laboratory quality and processes technical attributes, bioinformatics pipelines, variant interpretation processes
Genomic findings pathogenicity, actionability, diagnostic yield