SUPPLEMENTAL TABLES
Table SI. Reported Disease Risk Values for a Caucasian OSU-CPMC Participant
Disease / Genetic Variant RR / Family History RR** / BMI RR / Smoking RR / Diabetes RRAMD / 2.4, 6.0 / 4.0 / NA / 1.4a, 2.0b / NA
CAD / 1.3, 1.7 / 1.2F, 1.4M / NA / 2.1M,2.7F / 1.7M, 2.4F
DM1 / 0.08, 0.3 / 2.3; 6.6 / NA / NA / NA
DM2 / 1.2, 1.3 / 1.9 / 2.3c, 5.9d / NA / NA
HH / 1.0M, 27.0M*** / NA / NA / NA / NA
LUP / 1.4, 2.0 / 4.1, 11.3 / NA / 1.0a, 1.5b / NA
MEL / 1.7, 3.0 / 2.2 / NA / NA / NA
PRO / 1.5M, 1.5M / 1.9M / NA / NA / NA
AMD: Age Related Macular Degeneration
CAD: Coronary Artery Disease
DM1: Type 1 Diabetes
DM2: Type 2 Diabetes
HH: Hemochromatosis
LUP: Systemic Lupus Erythematosus
MEL: Melanoma
PRO: Prostate cancer
RR: Relative Risk
NA: not applicable risk factor
M: Male
F: Female
a former smoker
b current smoker
c BMI=25.0 - 29.9 kg/m2
d BMI=≥ 30 kg/m2
**Positive family history defined as follows:
AMD: one or more first-degree relatives with age-related macular degeneration
CAD: one or both parents diagnosed with coronary artery disease
DM1: one (RR 2.3) or more (RR 6.6) first-degree relatives diagnosed with type 1 or type 2 diabetes
DM2: one or both parents with type 2 diabetes
LUP: one (RR 4.1) or two or more (RR 11.3) first-degree relatives with a history of any of the following autoimmune diseases: systemic lupus erythematosus (SLE/lupus) , Sjogren's syndrome, rheumatoid arthritis, vitiligo, multiple sclerosis, celiac disease, type 1 diabetes, autoimmune hyperthyroidism-Grave's disease, autoimmune hypothyroidism, Crohn’s disease, ulcerative colitis and psoriasis.
MEL: one or more first-degree relatives with melanoma
PRO: father and/or any brothers diagnosed with prostate cancer
*** RR only provided to males. Male heterozygotes and homozygote wild type received an RR of 1.0; females got absolute risk: homozygotes received 16% lifetime risk, heterozygotes and wild type homozygotes received a lifetime risk of 1%.
Table SII. Self-Reported Diagnoses of Study Participants
Disease / Genomic Counseling Intervention / Control / TotalAge Related Macular Degeneration / 6 / 2 / 8
Coronary Artery Disease / 19 / 17 / 36
Type 1 Diabetes / 4 / 1 / 5
Type 2 Diabetes / 16 / 22 / 38
Hemochromatosis / 0 / 1 / 1
Systemic Lupus Erythematosus / 1 / 0 / 1
Melanoma / 0 / 2 / 2
Prostate cancer / 1 / 3 / 4
Total / 47 / 48 / 95
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Table SIII. Number of Participants with at Least One Risk Factor
Disease / Risk Factor / Number of counts for each risk variable * / % of Participants With At Least One Risk VariableAMD / Smoking (former history) / 77
Smoking (current history) / 9
Family History / 17
Variant (heterozygous) / 77
Variant (homozygous) / 11
0.731
CAD / Diabetes / 29
Smoking / 7
Family History / 100
Variant (heterozygous) / 101
Variant (homozygous) / 39
0.893
DM1 / Family History / 43
Variant (heterozygous) / 28
Variant (homozygous) / 98
0.117
DM2 / BMI (BMI 25-29.9) / 69
BMI (BMI ≥ 30) / 85
Family History (one parent) / 35
Variant (heterozygous) / 90
Variant (homozygous) / 22
0.924
HH / Variant (homozygous) / 1
0.005
LUP / Smoking / 9
Family History (one-first degree relative) / 36
Family History (two first-degree relatives) / 20
Variant (heterozygous) / 68
Variant (homozygous) / 15
0.518
MEL / Family History / 26
Variant (heterozygous) / 32
Variant (homozygous) / 1
0.269
PRO / Family History / 9
Variant (heterozygous and homozygous risk) / 13
0.107
*Some participants had more than one risk variable for a given disease
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Table SIV. Number of Days Between Survey Completion, Report Release, Report Viewing and Genomic Counseling
Baseline Survey Completion to Genomic Counseling / Release of Test Reports to Genomic Counseling / Viewing of First Test Report to Genomic Counseling / Genomic Counseling to Completion of Follow-up SurveyMinimum / 82 / 18 / 39 / 29
Median / 176 / 59 / 41 / 99
Mean / 224 / 90 / 52 / 168
Maximum / 661 / 405 / 173 / 991
Table SV. Causal Attributes of Genetic Variant, Family History, and Environmental Disease Risk:
General Composite Score Across All Eight Diseases Under Study (Intention to Treat)
Estimate / CI (lower) / CI (upper) / Std. Error / P value / FDR p valueGenetic Variant / 0.397 / 0.09 / 0.70 / 0.155 / 0.011 / 0.111
Family History / 0.108 / -0.15 / 0.37 / 0.132 / 0.418 / 0.71
Environmental / 0.056 / -0.215 / 0.33 / 0.137 / 0.681 / 0.84
Additional Analyses: Causal Attributes of Genetic Variant Disease Risk (Intention to Treat)
Disease / Risk Factor / Estimate / Std. Error / P ValueAMD / Genetic Variant / 0.362 / 0.347 / 0.297
CAD / Genetic Variant / 0.382 / 0.350 / 0.274
DM1 / Genetic Variant / 0.975 / 0.354 / 0.006
DM2 / Genetic Variant / 0.111 / 0.344 / 0.747
HH / Genetic Variant / 1.139 / 0.371 / 0.0021
LUP / Genetic Variant / 1.321 / 0.379 / 0.0005
MEL / Genetic Variant / 0.637 / 0.346 / 0.066
PRO / Genetic Variant / 1.007 / 0.358 / 0.005
Legend:
Survey Question: How much do you think having a genetic risk variant determines whether or not a person will develop each of the following conditions?
Null Hypothesis: Genomic counseling does not influence the importance that participants place on a given factor (genetic variant, family history, environment) on determining disease risk
Estimate: The estimated coefficient in the model for Intervention Arm participants. The range of possible values is –infinity to +infinity
AMD: Age Related Macular Degeneration
CAD: Coronary Artery Disease
DM1: Type 1 Diabetes
DM2: Type 2 Diabetes
FDR: False discovery rate
HH: Hemochromatosis
LUP: Systemic Lupus Erythematosus
MEL: Melanoma
PRO: Prostate cancer
Table SVI. Baseline Personal Awareness of Family History and Environmental Risk Factors
Per Protocol
Risk Variable / Estimate / Standard Error / P Value / FDR P ValueAMD / Smoking / −0.466 / 0.817 / 0.568 / 0.744
Family / −0.553 / 0.612 / 0.366 / 0.647
CAD / Diabetes / 0.147 / 0.476 / 0.758 / 0.882
Smoking / −0.358 / 0.502 / 0.474 / 0.744
Family / −0.121 / 0.579 / 0.834 / 0.891
DM1 / Family / 0.251 / 0.598 / 0.675 / 0.832
DM2 / BMI / 1.25 / 0.733 / 0.0872 / 0.309
Family / 0.213 / 0.612 / 0.727 / 0.870
LUP / Smoking / −24.71 / 13269.909 / 0.999 / 1.000
LUP / Family / 1.837 / 1.060 / 0.083 / 0.307
MEL / Family / −1.332 / 1.204 / 0.268 / 0.574
PRO / Family / −1.203 / 2.256 / 0.59376445900 / 0.753
Intention to Treat
Risk Variable / Estimate / Standard Error / P Value / FDR P ValueAMD / Smoking / −0.609 / 0.813 / 0.453 / 0.720
Family / −0.636 / 0.610 / 0.296 / 0.600
CAD / Diabetes / 0.009 / 0.464 / 0.984 / 1.000
Smoking / −0.478 / 0.491 / 0.329 / 0.637
Family / −0.211 / 0.577 / 0.7142 / 0.843
DM1 / Family / 0.310 / 0.596 / 0.6021 / 0.800
DM2 / BMI / 1.248 / 0.705 / 0.0764 / 0.292
Family / 0.149 / 0.612 / 0.807 / 0.924
LUP / Smoking / −24.72 / 12841.942 / 0.998 / 1.000
LUP / Family / 1.811 / 1.074 / 0.091 / 0.311
MEL / Family / −0.977 / 1.112 / 0.379 / 0.658
PRO / Family / −1.203 / 2.25 / 0.593 / 0.800
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AMD: Age Related Macular Degeneration
CAD: Coronary Artery Disease
DM1: Type 1 Diabetes
DM2: Type 2 Diabetes
GC: Genomic Counseling
HH: Hemochromatosis
LUP: Systemic Lupus Erythematosus
MEL: Melanoma
PRO: Prostate cancer
FDR: False Discovery Rate
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Table SVII: Participant Awareness of an Increase in Disease Risk Due to a Genetic Variant (Intention to Treat)
Yes / No / FET p value / FDR p valueAMD
GC intervention / 34 / 23 / 0.054 / 0.248
Control / 13 / 35
CAD
GC intervention / 36 / 24 / 0.013 / 0.112
Control / 31 / 18
DM1
GC intervention / 12 / 48 / 0.004 / 0.068
Control / 11 / 37
DM2
GC intervention / 34 / 26 / 0.007 / 0.107
Control / 16 / 33
HH
GC intervention / 9 / 45 / 0.122 / 0.346
Control / 6 / 40
LUP
GC intervention / 17 / 40 / 0.019 / 0.140
Control / 8 / 38
MEL
GC intervention / 19 / 41 / 0.001 / 0.023
Control / 7 / 38
PRO
GC intervention / 5 / 47 / 0.034 / 0.212
Control / 2 / 35
Legend:
Survey Question: Do you have an increased risk for any of the following conditions due to a CPMC genetic risk variant?
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AMD: Age Related Macular Degeneration
CAD: Coronary Artery Disease
DM1: Type 1 Diabetes
DM2: Type 2 Diabetes
HH: Hemochromatosis
LUP: Systemic Lupus Erythematosus
MEL: Melanoma
PRO: Prostate cancer
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FDR: False Discovery Rate
FET: Fisher’s Exact Test
GC: Genomic Counseling
Table SVIII. Perceived Risk (Intention to Treat)
Disease / Risk Factor / Genomic Counselingp Value / Actual Risk
p Value / Genomic Counseling FDR p Value / Actual Risk FDR p Value
AMD / Family / 0.134 / 0.290 / 0.367 / 0.600
Smoking / 0.282 / 0.992 / 0.598 / 1.000
Variant / 0.109 / 0.815 / 0.331 / 0.924
CAD / Diabetes / 0.600 / 0.468 / 0.799 / 0.723
Family / 0.227 / 0.549 / 0.551 / 0.799
Smoking / 0.316 / 0.540 / 0.624 / 0.799
Variant / 0.710 / 0.071 / 0.843 / 0.291
DM1 / Family / 0.098 / 0.750 / 0.318 / 0.873
Variant / 0.044 / 0.485 / 0.232 / 0.737
DM2 / BMI / 0.458 / 0.001 / 0.720 / 0.040
Family / 0.675 / 0.067 / 0.843 / 0.289
Variant / 0.909 / 0.009 / 0.985 / 0.112
LUP / Family / 0.134 / 0.290 / 0.367 / 0.600
Variant / 0.282 / 0.992 / 0.599 / 1.000
MEL / Family / 0.109 / 0.815 / 0.331 / 0.924
Variant / 0.601 / 0.468 / 0.800 / 0.723
Legend:
Survey Question: What do you think is your chance of developing each of the following diseases in your lifetime?
Null hypothesis: genomic counseling and actual risk do not have an influence on a participant’s belief that they will/will not develop the disease
Hemochromatosis (HH) was not included because there were no participants with HFE mutation (the only reported risk factor) that completed follow up.
Prostate cancer (PRO) was not included because the number of participants with a risk factor was too small to estimate model
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AMD: Age Related Macular Degeneration
CAD: Coronary Artery Disease
DM1: Type 1 Diabetes
DM2: Type 2 Diabetes
HH: Hemochromatosis
LUP: Systemic Lupus Erythematosus
MEL: Melanoma
PRO: Prostate cancer
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FDR: False Discovery Rate
Table SIX. Response to Numeracy Questions at Baseline and Follow up
Expanded Numeracy / BL GC / BL Control / FUP GC / FUP ControlIf the chance of getting a disease is 10%, how many people out of 100 would be expected to get the disease
Correct / 73 / 89 / 58 / 55
Incorrect / 3 / 6 / 4 / 1
If the chance of getting a disease is 10%, how many people out of 1000 would be expected to get the disease
Correct / 70 / 84 / 54 / 52
Incorrect / 6 / 11 / 7 / 4
General Numeracy
Imagine that we rolled a fair, six-sided die 1,000 times. Out of 1,000 rolls, how many times do you think the die would come up even (2, 4, or 6)?
Correct / 51 / 56 / 34 / 34
Incorrect / 25 / 39 / 16 / 16
In the ACME PUBLISHING SWEEPSTAKES, the chance of winning a car is 1 in 1,000. What percent of tickets to ACME PUBLISHING SWEEPSTAKES win a car?
Correct / 41 / 33 / 15 / 12
Incorrect / 35 / 62 / 22 / 23
Relative Risk Numeracy
People without a family history of coronary artery disease have a 20% risk to develop coronary artery disease. People with a family history have a relative risk of 2.0 (they are 2 times as likely to develop coronary artery disease as those without a family history).What is the risk for someone with a family history?
Correct / 65 / 88 / 48 / 46
Incorrect / 11 / 7 / 14 / 10
If a person has a genetic variant that gives a relative risk for developing type 2 diabetes of 1.3, how likely are they to develop Type 2 diabetes compared to someone with no copies of that genetic variant?
Correct / 13 / 27 / 13 / 13
Incorrect / 63 / 68 / 49 / 42
Legend:
BL GC: Baseline response for participants receiving genomic counseling intervention
BL Control: Baseline response for control participants
FUP GC: Follow up response for participants receiving genomic counseling intervention
FUP Control: Follow up response for control participants
Table SX. General and Relative Risk Numeracy, Combined Question Response
Coefficient / Estimate / CI (lower) / CI (upper) / Std. ErrorGender / 0.038 / −0.025 / 0.0912 / 0.029
Age / 0.0005 / −0.002 / 0.003 / 0.001
Diagnosis / −0.014 / −0.074 / 0.043 / 0.029
Education / 0.022 / 0.0003 / 0.043 / 0.011
Baseline % Correct / 0.528 / 0.394 / 0.645 / 0.064
Group (NoGC) / 0.044 / -0.014 / 0.102 / 0.029
Genomic Counseling Intervention FDR p=0.39
NoGC: No Genomic Counseling
Estimate: The estimated coefficient in the model for Intervention Arm participants. The range of possible values is –infinity to +infinity
Table SXI. Personal Rating of Genetic Knowledge
Better Than Most People / About Average / Less Than Most People / Did Not Want To AnswerBaseline
Genomic Counseling Intervention / 17 / 47 / 11 / 1
Control / 22 / 56 / 16 / 1
Follow up
Genomic Counseling Intervention / 20 / 35 / 4 / 1
Control / 15 / 29 / 10 / 1
Table SXII. Complex and Simple Genetic/Genomic Knowledge Questions
Complex / BL GC / BL Control / FUP GC / FUP Control