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Table 1 PhenX Toolkit measures employed in the current study and availability/comparability of PMRP data for validation

From: Validation of PhenX measures in the personalized medicine research project for use in gene/environment studies

PhenX ID PhenX measure name Available PMRP data source for comparison Comparability of measures (N/A for not applicable where there are no data for comparison)
010101 Current age EMR Not identical but expect congruence because construct is same
010201 Birthplace No data N/A
010301 Birthplace of parents No data N/A
010401 Birthplace of grandparents No data N/A
010501 Ethnicity Enrollment questionnaire (US Census question) Fewer forced options were available on the PMRP questionnaire then the PhenX questionnaire based on expected responses prior to the “other/please specify” option. Construct is the same.
010601 Race Enrollment questionnaire (US Census question) Fewer forced options were available on the PMRP questionnaire then the PhenX questionnaire based on expected responses prior to the “other/please specify” option. Construct is the same.
010701 Gender EMR Not identical but expect congruence because construct is same
010801 Current address EMR Not identical but expect congruence because construct is same
010901 Current marital status No data N/A
011001 Current educational attainment Questionnaire for subset post enrollment Not identical but expect congruence because construct is same, fewer forced categories for lower levels of education in PMRP questionnaire based on expected responses
011301 Current employment status Enrollment questionnaire (US Census question) Similar construct, but not identical questions. PhenX includes 8 choices for current working status. PMRP questionnaire asked about being employed in the previous 5 years (yes/no)
011401 Household roster – relationships No data N/A
011501 Health insurance coverage EMR Not identical but expect congruence because construct is same
020602 Hand dominance (12 years and older) No data N/A
020704 Self-reported height Measured at enrollment, EMR Same construct, but expect some over-reporting based on literature
021502 Self-reported weight Measured at enrollment, EMR Same construct, but expect some under-reporting based on literature
030101 Alcohol – lifetime use No data N/A
030201 Alcohol – age of first use No data N/A
030301 Alcohol – 30-day frequency and quantity Enrollment questionnaire Same construct, but PhenX did not have forced category responses. PhenX had open-ended number of days and number of drinks per day. PMRP had forced categories of response (<1, 1–2, 3–4, 5–7 days per week and 1, 2, 3–4, 50 or more drinks per day)
030401 Alcohol – maximum drinks in 24 hours No data N/A
030501 Alcohol – lifetime abuse and dependence No data N/A
030602 Tobacco – smoking status (adult protocol) Enrollment questionnaire Identical questions
030702 Tobacco – age of initiation of use (adult protocol) No data N/A
030802 Tobacco – 30-day quantity and frequency (adult protocol) Enrollment questionnaire Identical questions
030902 Tobacco – age of offset of use (adult protocol) No data N/A
031001 Tobacco – nicotine dependence No data N/A
040101 Family history of heart attack Family history of heart or stroke from enrollment questionnaire Similar construct but definition of relatives is different and two health outcomes were included in the PMRP questionnaire
060101 Characteristics of current residence No data N/A
060701 Current environmental tobacco smoke exposure No data N/A
060801 Sibship/birth order No data N/A
061301 Ultraviolet light exposure No data N/A
070301 Passive smoke exposure No data N/A
120402 Hypomania/mania symptoms - adult No data N/A
120502 Depression – adult No data N/A
130301 History of stroke – ischemic infarction and hemorrhage EMR Similar construct but difficult to determine if people completing PhenX questionnaire understand medical terms
150901 Total physical activity screener No comparable data N/A