Table 4.
Association between Condition-Specific Risk Estimates from Genomewide Profiling and Intended or Actual Completion of Screening Tests.*
| Screening Test and Condition | Assessment of Clinical Benefit of Screening Test | Completion of Screening Test† | Intention to Increase Frequency of Screening Test‡ | Completion of Screening Test | Intention to Increase Frequency of Screening Test | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Estimated Lifetime Risk | Orange Color Code§ | Estimated Lifetime Risk | Orange Color Code§ | ||||||||
| percent | odds ratio (95%CI) | P value | odds ratio (95%CI) | P value | odds ratio (95%CI) | P value | odds ratio (95%CI) | P value | |||
| Thyroid test for Graves' disease | No benefit | 24.8 | 9.5 | 1.04 (0.93–1.16) | 0.47 | 1.18 (0.91–1.52) | 0.22 | 1.01 (0.86–1.18) | 0.92 | 1.34 (0.93–1.94) | 0.11 |
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| |||||||||||
| Skin examination for psoriasis | No benefit | 23.2 | 15.9 | 0.99 (0.92–1.09) | 0.97 | 1.03 (0.82–1.29) | 0.82 | 1.05 (0.96–1.15) | 0.30 | 1.24 (0.96–1.60) | 0.09 |
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| Ophthalmic examination | 29.2 | 14.4 | |||||||||
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| Glaucoma | Possible benefit | 1.02 (0.98–1.07) | 0.32 | 1.22 (0.96–1.56) | 0.10 | 1.12 (1.06–1.18) | <0.001 | 1.63 (1.22–2.17) | 0.001 | ||
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| |||||||||||
| Macular degeneration | Possible benefit | 1.01 (1.00–1.03) | 0.04 | 1.14 (0.91–1.42) | 0.25 | 1.05 (1.04–1.06) | <0.001 | 2.02 (1.56–2.63) | <0.001 | ||
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| Glucose test for type 2 diabetes | Established benefit | 35.7 | 17.4 | 1.01 (0.99–1.02) | 0.18 | 1.14 (0.94–1.39) | 0.19 | 1.03 (1.02–1.04) | <0.001 | 1.88 (1.47–2.42) | <0.001 |
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| Electrocardiogram | 13.3 | 9.1 | |||||||||
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| |||||||||||
| Atrial fibrillation | No benefit | 0.99 (0.96–1.01) | 0.24 | 0.82 (0.61–1.09) | 0.17 | 1.03 (1.01–1.05) | 0.009 | 1.50 (1.10–2.06) | 0.01 | ||
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| Heart attack | No benefit | 0.99 (0.97–1.01) | 0.36 | 0.80 (0.56–1.14) | 0.22 | 1.01 (0.98–1.04) | 0.42 | 1.52 (0.99–2.35) | 0.06 | ||
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| Colonoscopy | 8.5 | 15.4 | |||||||||
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| Colon cancer | Established benefit | 1.08 (0.98–1.19) | 0.14 | 1.12 (0.79–1.59) | 0.54 | 1.21 (1.13–1.30) | <0.001 | 2.17 (1.68–2.79) | <0.001 | ||
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| |||||||||||
| Crohn's disease | No benefit | 0.98 (0.78–1.22) | 0.84 | 1.13 (0.76–1.68) | 0.54 | 1.17 (1.01–1.36) | 0.04 | 1.19 (0.88–1.60) | 0.26 | ||
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| Cholesterol test | 50.9 | 26.3 | |||||||||
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| Heart attack | Established benefit | 0.99 (0.98–1.02) | 0.92 | 0.80 (0.62–1.02) | 0.07 | 1.02 (1.00–1.04) | 0.04 | 1.36 (1.03–1.79) | 0.03 | ||
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| Type 2 diabetes | No benefit | 1.01 (0.99–1.02) | 0.13 | 1.08 (0.89–1.30) | 0.44 | 1.00 (0.99–1.01) | 0.68 | 0.98 (0.80–1.21) | 0.88 | ||
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| Chest radiography for lung cancer | No benefit | 8.0 | 7.3 | 1.01 (0.88–1.16) | 0.87 | 1.21 (0.70–2.08) | 0.49 | 1.02 (0.89–1.16) | 0.82 | 1.26 (0.72–2.19) | 0.42 |
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| Cardiac stress test | 5.7 | 10.6 | |||||||||
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| Atrial fibrillation | No benefit | 0.99 (0.96–1.02) | 0.44 | 0.81 (0.53–1.23) | 0.31 | 1.02 (1.00–1.05) | 0.02 | 1.36 (1.01–1.83) | 0.045 | ||
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| Heart attack | Possible benefit | 0.99 (0.96–1.02) | 0.41 | 0.89 (0.48–1.64) | 0.71 | 1.03 (1.01–1.06) | 0.007 | 1.48 (0.97–2.26) | 0.07 | ||
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| Blood test | 51.4 | 23.4 | |||||||||
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| Celiac disease | No benefit | 0.96 (0.64–1.44) | 0.84 | 1.04 (0.83–1.30) | 0.76 | 0.99 (0.62–1.60) | 0.99 | 1.13 (0.88–1.47) | 0.34 | ||
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| Colon cancer | No benefit | 0.99 (0.94–1.06) | 0.97 | 1.01 (0.83–1.24) | 0.92 | 1.07 (1.00–1.14) | 0.04 | 1.18 (0.94–1.49) | 0.14 | ||
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| |||||||||||
| Crohn's disease | No benefit | 0.89 (0.77–1.02) | 0.08 | 0.91 (0.73–1.14) | 0.42 | 1.03 (0.89–1.20) | 0.67 | 0.98 (0.75–1.28) | 0.87 | ||
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| |||||||||||
| Lupus | No benefit | 1.13 (0.83–1.52) | 0.44 | 0.99 (0.80–1.24) | 0.98 | 1.19 (0.89–1.60) | 0.24 | 1.10 (0.86–1.42) | 0.45 | ||
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| Rheumatoid arthritis | No benefit | 1.06 (0.99–1.13) | 0.09 | 1.23 (0.98–1.54) | 0.07 | 1.04 (0.97–1.12) | 0.30 | 1.16 (0.90–1.50) | 0.24 | ||
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| Breast self-examination for breast cancer | Possible benefit | 68.9 | 24.5 | 1.02 (0.98–1.06) | 0.40 | 1.13 (0.78–1.64) | 0.51 | 1.05 (1.01–1.09) | 0.02 | 1.90 (1.32–2.74) | 0.001 |
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| Mammography for breast cancer | Established benefit | 39.0 | 13.8 | 0.99 (0.96–1.03) | 0.73 | 0.81 (0.55–1.18) | 0.27 | 1.06 (1.01–1.11) | 0.02 | 2.42 (1.60–3.67) | <0.001 |
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| Prostate-specific antigen test for prostate cancer | Possible benefit | 22.6 | 18.6 | 1.02 (0.99–1.04) | 0.15 | 1.51 (1.05–2.17) | 0.03 | 1.06 (1.04–1.09) | <0.001 | 2.43 (1.71–3.45) | <0.001 |
Percentages for breast self-examination and mammography include only women, and those for prostate-specific antigen testing include only men. Additional information regarding the rationale behind the assessment of clinical benefit, current guidelines for screening tests, and relevant references are provided in Table 1 in the Supplementary Appendix.
The values in this category are the percentages of subjects who reported actually completing the listed screening test since receiving their genomic risk results.
The values in this category are the percentages of subjects who reported having an intention to increase the frequency of the listed screening test since receiving their genomic risk results. However, the percentages do not reflect the number of subjects who said they intended to complete a screening test after receiving their genomic results. Thus, the proportions of subjects in this category are generally lower than the proportions of subjects who reported actually completing the screening test.
Orange color coding represents a condition for which the subject's estimated lifetime risk was more than 20% above average or for which the overall lifetime risk was more than 25%.