Table 2.

Summary of findings from whole genome sequencing.^*

	Variants Related to Condition			Monogenic Disease Risk Secondary Findings			Carrier Findings
Variant Classification	Patients with this result (%)	Mean per patient (sd)	Range per patient	Patients with this result (%)	Mean per patient (sd)	Range per patient	Patients with this result (%)	Mean per patient (sd)	Range per patient
Cardiology cohort (n=49)
Any results	24 (49%)	0.6 (0.6)	0–2	8 (16%)	0.2 (0.4)	0–1	41 (84%)	1.9 (1.4)	0–6
Pathogenic	12 (24%)	0.2 (0.4)	0–1	2 (4%)	0.0 (0.2)	0–1	33 (67%)	1.2 (1.1)	0–4
Likely pathogenic	4 (8%)	0.1 (0.3)	0–1	3 (6%)	0.1 (0.2)	0–1	18 (37%)	0.4 (0.6)	0–2
VUS: Favor pathogenic	4 (8%)	0.1 (0.3)	0–1	1 (2%)	0.0 (0.1)	0–1	6 (12%)	0.2 (0.6)	0–3
VUS*	5 (10%)	0.1 (0.5)	0–2	-	-	-	-	-	-
Risk allele†	0 (0%)	0.0 (0.0)	0	2 (4%)	0.0 (0.2)	0–1	1 (2%)	0.0 (0.1)	0–1
Primary care cohort (n=50)				Monogenic Disease Risk Findings			Carrier Findings
All results				13 (26%)	0.3 (0.4)	0–1	50 (100%)	2.7 (1.5)	1–7
Pathogenic				6 (12%)	0.1 (0.3)	0–1	45 (90%)	1.9 (1.3)	0–5
Likely pathogenic				3 (6%)	0.1 (0.2)	0–1	21 (42%)	0.6 (0.8)	0–3
VUS: Favor pathogenic				3 (6%)	0.1 (0.2)	0–1	10 (20%)	0.2 (0.5)	0–2
Risk allele†				1 (3%)	0.0 (0.1)	0–1	0 (0%)	0 (0.0)	0

^*Variants of uncertain significance (VUS) where evidence did not favor pathogenicity were only disclosed if they potentially explained a cardiology patient’s diagnosis of hypertrophic or dilated cardiomyopathy. All patients also received polygenic risk predictions about 8 cardiometabolic traits and pharmacogenomic results about 5 drugs. See Appendix 6 and Appendix 7, respectively

^†Two cardiology patients and one primary care patient were identified with risk alleles for Factor V Leiden thrombophilia, which were reported as monogenic disease risk findings. In addition, one cardiology patient was identified with an allele associated with HEXA pseudodeficiency which was reported as a carrier finding.