Table 1.

Comparison of the main characteristics of selected clinical genetics workflows.

Workflow characteristic		HeartCare	All of Us	eMERGEa	INSIGHTb	Rapid NICUc
Genetic test type		Panel	Panel	Panel	WESd	WGSe
Approximate positive rate, %		8	~2-3	3	>40	>30
Up-front phenotype term collection		Main disease areas	None	Main disease areas	Detailed	—f
Return of results
	Return of results by clinician	Yes	No	No	Yes	Yes
	Return of results by genetic counselor	Partial	Yes	Yes	Partial	Yes
Report characteristics
	Form of report is easily EHRg-integratable	Yes	Somewhat	Yes	Yes	Yes
	Report is focused on one disease area	Yes	No	No	Yes	No
	Report contains pharmacogenomics	Yes	Yes	Yes	Yes	Yes
	Report contains polygenic risk score	Yes	No	No	No	No
Usage of genetic information
	Reanalysis of genetic information desired	Yes	Yes	Yes	Yes	Sometimes
	Reanalysis enables future diagnosis on other diseases	No	Yes	Yes	Yes	Yes
	Supports genotype-phenotype analysis	Yes	Yes	Yes	Yes	Yes
Generalizability
	Overall reporting framework generalizable to other diseases	Yes	Yes	Yes	Yes	Yes
	Generalization requires development of specialty-specific systems	No	No	No	No	No

^aeMERGE: Electronic Medical Records and Genomics.

^bINSIGHT: Implementation Science for Genomic Health Translation.

^cNICU: neonatal intensive care unit.

^dWES: whole exome sequencing.

^eWGS: whole genome sequencing.

^fProject is in development and data are not available.

^gEHR: electronic health record.