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Table 3 Comparison of clinically actionable variants identified in FH not available and available cohorts

From: Family history assessment significantly enhances delivery of precision medicine in the genomics era

  

Increased FH risk n = 73

Average FH risk n = 793

RR (95% CI)

p value

Increased FH risk n = 73

FH not available n = 884

RR (95% CI)

p value

Cancer gene panel

 No of clinically actionable variants (%)

10 (13.7)

17 (2.1)

6.39 (3.0–13.4)

0.0001

10 (13.7)

17 (1.9)

7.1 (3.3–14.9)

0.0001

ACMG SF v2.0 cancer genes

 No of clinically actionable variants (%)

5 (6.8)

3 (0.4)

18.1 (4.4–74.2)

0.0002

5 (6.8)

4 (0.5)

15.13 (4.1–55.1)

0.0001

  1. RR relative risk, CI confidence interval
  2. Increased FH risk: participants assessed at increased cancer risk based on their family history
  3. Average FH risk: participants who were not found to be at increased risk based on their family history
  4. FH not available: participants where family history was not available