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Table 2 Number of patients identified as having met Cleveland Clinic criteria using informatics approach across the three sites

From: Validation of a computational phenotype for finding patients eligible for genetic testing for pathogenic PTEN variants across three centers

 

Boston Children’s Hospital

University of Washington

Children’s National Hospital

From January 2001 to October 2019

January 2001 to August 2019

From August 2012 to October 2019

Total patients with at least one ICD-9 or ICD-10 code available for review

1.78 M

2.7 M

2.11 M

Number of patients identified by informatics approach as having met Cleveland Clinic criteria

1,215

104

481

Number of patients identified by informatics approach as having met Cleveland Clinic criteria whose charts were manually reviewed

396

94

481

Number of patients who had any genetic testing (from among those whose charts were manually reviewed)

204

29

227

Number of patients who had any genetic testing which included PTEN sequencing and/or deletion duplication analysis (from among those whose charts were manually reviewed)

90

17

43

Number of patients who satisfied Cleveland Clinic criteria after human review (from among those whose charts were manually reviewed)

371

77

438

Number of patients with pathogenic or likely pathogenic variant in PTEN (from among those whose charts were manually reviewed)

14

0

13

Yield of the informatics approach in identifying patients who meet Cleveland Clinic criteria (from among those whose charts were manually reviewed)

371/396

(94%)

77/94

(82%)

438/481

(91%)

Number of patients with PHTS divided by number of those identified as having met Cleveland Clinic criteria using informatics approach whose charts were manually reviewed

3.54%

(14/396)

0

(0/94)

2.70%

(13/481)

Number of patients with PHTS divided by number of those identified as having met Cleveland Clinic criteria using informatics approach and who also had genetic testing which included detection of PTEN variants (from among those whose charts were manually reviewed)

15.6%

(14/90)

0%

(0/17)

30.2%

(13/43)