Table 1.

Demographics and characteristics of the study participants

Characteristic	Participants with VUSs Result (N=14)	Participants with Negative Result (N=9)
Age at Time of Recruitment	28–69 years	29–71 years
Male	79% (11/14)	33% (3/9)
White	91% (13/14)	100% (9/9)
Estimated Annual Household Income
<$45,000	2	3
$45,000-$89,999	1	1
≥$90,000	10	5
Declined to answer	1	0
Education
Graduate School	8	1
College Graduate	5	6
Some College	1	1
High School	0	1
Length of Diagnostic Odyssey
6 months – 1 year	1	0
3–4 years	5	2
5–10 years	2	5
over 10 years	6	2
Approximate Time Passed Since Exome Result Disclosure, Range	1 month – 4.25 years	6 months – 2.5 years
Category of Undiagnosed Condition a
Neurologic/Ataxiab	7	3
Myopathyc	3	2
Cardiovasculard	1	1
Connective Tissuee	1	0
Ambiguousf	2	3
Intolerance of Uncertainty Short-Form Scaleg, mean (SD); Median	25.9 (8.34); 25	30.4 (8.50); 28
Perceptions of Uncertainties in Genome Sequencing Scaleh, mean (SD); Median	36 (9.90); 37.5	32.2 (6.38); 34

^a.Based solely on participant report of their symptoms. Conditions were characterized based on a majority of symptoms fitting into one particular category; therefore, some conditions may share symptoms from other categories.

^b.Refers to unspecific ataxia/movement diagnoses, or symptoms reflecting neurologic issues such as tremors or slurred speech.

^c.Refers to unspecific muscle-related diagnoses or symptoms such as muscle weakness and pain.

^d.Refers to cardiac conditions or events such as cardiomyopathy or aortic dissection.

^e.Refers to symptoms reflective of a connective tissue condition, such as hypermobility and joint pain.

^f.Refers to a symptomatology that did not have a majority of symptoms fitting into one distinct category.

^g.Higher scores convey greater intolerance of uncertainty. Range: 16–48.

^h.Higher scores convey greater certainty in patients’ perceptions of their genome sequencing results. Range: 20–50