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. Author manuscript; available in PMC: 2013 Sep 30.
Published in final edited form as: N Engl J Med. 2011 Jan 12;364(6):524–534. doi: 10.1056/NEJMoa1011893

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

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

Ophthalmic examination 29.2 14.4

 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

 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

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

Electrocardiogram 13.3 9.1

 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

 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

Colonoscopy 8.5 15.4

 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

 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

Cholesterol test 50.9 26.3

 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

 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

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

Cardiac stress test 5.7 10.6

 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

 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

Blood test 51.4 23.4

 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

 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

 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

 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

 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

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

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

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%.