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. Author manuscript; available in PMC: 2023 Apr 1.
Published in final edited form as: Am J Med Genet A. 2022 Jan 3;188(4):1088–1101. doi: 10.1002/ajmg.a.62619

Table 2:

Types and Quality of Perceived Utility and Disutility

Diagnosed (n=13) Undiagnosed (n=17) All (n=30)
Health Status or Outcomes
 Positive 1 (7.7%) 0 (0.0%) 1 (3.3%)
 No Impacts 12 (92.3%) 17 (100%) 29 (96.7%)
Healthcare Management and Access
 Positive 7 (53.8%) 2 (11.8%) 9 (30.0%)
 Mixed (both positive and negative) 1 (7.7%) 2 (11.8%) 3 (10.0%)
 Negative 0 0 0
 No Impact 5 (38.5%) 13 (76.5%) 18 (60.0%)
Psychological or Emotional Well-Being
 Positive 4 (30.8%) 3 (17.6%) 7 (23.3%)
 Mixed (both positive and negative) 8 (61.5%) 6 (35.3%) 14 (46.7%)
 Negative 0 4 (23.5%) 4 (13.3%)
 No Impact 1 (7.7%) 4 (23.5%) 5 (16.7%)
Social Connections and Research Opportunities
 Positive 5 (38.5%) 2 (11.8%) 7 (23.3%)
 Mixed (both positive and negative) 2 (15.4%) 0 2 (6.7%)
 Negative 0 0 0
 No Impact 6 (46.1%) 15 (88.2%) 20 (70.0%)
  Not attempted 5 9 1
  Not available 1 2 3
  Already connected 0 4 4