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

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