Table 1 Characteristics of the 65 NSIGHT1 probands

Sex

Female (n, %)

15 (47%)

11 (33%)

Male (n, %)

16 (50%)

21 (64%)

Undetermined (n, %)

1 (3%)

1 (3%)

Demographics

Caucasian (n, %)

25 (78%)

27 (82%)

African, African American (n, %)

2 (6%)

1 (3%)

Other race (n, %)

5 (16%)

5 (15%)

Hispanic (n, %)

2 (6%)

3 (9%)

Consanguinity (n, %)

1 (3%)

2 (6%)

Birth characteristics

Gestational age (average, wks)

36.0

35.9

Weight (average, kg)

2.5

2.4

Low birth weight (<2500 g, n, %)

14 (44%)

9 (27%)

Extremely low birth weight (<1000 g, n, %)

1 (3%)

3 (9%)

APGAR at 1 min (average)

6.1

5.1

APGAR at 5 min (average)

7.8

6.4

Symptom Onset (average day of life)

2.3

2.1

Primary system involved by disease

Congenital anomalies/musculoskeletal

10 (31%)

13 (39%)

Neurological

5 (16%)

11 (33%)

Cardiovascular findings

9 (28%)

2 (6%)

Endocrine/metabolic

1 (3%)

3 (9%)

Respiratory findings

4 (13%)

0 (0%)

Renal

1 (3%)

2 (6%)

Dermatologic

1 (3%)

0 (0%)

Multiple system

1 (3%)

0 (0%)

Hepatic

0 (0%)

0 (0%)

Enrollment and standard clinical tests^a

Day of life at enrollment (average, range)

22.8 (1–101)

22.0 (1–80)

Probands receiving standard clinical tests (n, %)

30 (93.8%)

33 (100%)

Day of life 1st standard clinical test ordered (average, range)

11.6 (0–66)

15.6 (0–120)

All standard clinical tests ordered (average, range)

2.8 (0–7)

3.4 (1–10)

Probands receiving Standard Clinical NGS panels, WES or WGS (n, %)

17 (53%)

24 (73%)

Standard Clinical NGS panels, WES and WGS Tests Ordered (n, range)

22 (0–2)

43 (0–4)

Probands receiving rWGS^b

32 (100%)

5 (15%)

Genetic disease diagnoses

Diagnosis (Standard Clinical Test or rWGS; n, %)^b

13 (41%)

8 (24%)

Diagnosis by Standard Clinical Tests (n, %)

7 (22%)

8 (24%)

Diagnosis by rWGS (n, %)^b

10 (31%)

2 (6%)

DOL diagnosis by Standard Clinical Test (median, range)

66 (16–151)

130 (37–451)

Time to Diagnosis by Standard Clinical Test (average, range)

45 (16–150)

110 (31–450)