Paula W. Yoon, ScD, MPH; Maren T. Scheuner, MD, MPH; Kris L. Peterson-Oehlke, MS, CGC; Marta Gwinn, MD, MPH; Andrew Faucett, MS, CGC; Muin J. Khoury, MD, PhD
Tables
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TABLE 1: Prevalence and relative risk estimates to family history for selected disease
| Cardiovascular disease |
58 million |
OR= 2.0 (one 1st-degree relative)38
OR= 5.4 (two or more 1st-degree relatives with onset <55yr)39 |
| Breast cancer |
3 million women |
RR= 2.1 (one 1st-degree relative)40
RR= 3.9 (three or more 1st-degree relatives)41 |
| Colorectal cancer |
Yearly incidence= 130,000 |
OR= 1.7 (one 1st-degree relative)26
OR= 4.9 (two 1st-degree relatives)27 |
| Prostate cancer |
Yearly incidence= 200,000 |
RR= 3.2 (one 1st-degree relative)42
RR= 11.0 (three 1st-degree relatives)43 |
| Melanoma |
200,000 |
OR= 2.7 (one or more 1st-degree relatives)44
OR= 4.3 (one 1st-degree relative)45 |
| Type II diabetes |
13 million |
RR= 2.4 (mother)46
RR= 4.0 (maternal and paternal relatives)47 |
| Osteoporosis |
8 million women
2 million men |
OR= 2.0 for osteoporotic fracture (female 1st-degree relative)48
RR= 2.4 for wrist fracture (father)49 |
| Asthma |
17 million |
OR= 3.0 (mother)50
RR= 7.0 (mother and father)51 |
TABLE 2: Suggested guidelines for risk stratification based on family history
High risk
- Premature disease in a 1st-degree relative
- Premature disease in a 2nd-degree relative (coronary artery disease only)
- Two affected 1st-degree relatives
- One 1st-degree relative with late or unknown disease onset and an affected 2nd-degree relative with premature disease from the same lineage
- Two 2nd-degree maternal or paternal relatives with at least one having permature onset of disease
- Three or more affected maternal or paternal relatives
- Presence of a "moderate risk" family history on both sides of the pedigree
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Moderate risk
- One 1st-degree relative with late or unknown onset of disease
- Two 2nd-degree relatives from the same lineage with late or unknown disease onset
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Average risk
- No affected relatives
- Only one affected 2nd-degree relative from one or both sides of the pedigree
- No known family history
- Adopted person with unknown family history
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From Scheuner et al.9
TABLE 3: Risk estimates for colorectal cancer for three risk groups as defined by family history
| Risk factor |
No 1st-degree relative with colorectal cancer26 |
Any 1st-degree relative with colorectal cancer after age 5026 |
Two 1st-degree relatives with colorectal cancer27,28 |
| Prevalence of the risk factor |
9/10 |
1/10 |
1/50-1/8,000 |
| Absolute risk |
0.04 |
0.06 |
0.20a-~1 |
| Relative risk |
reference |
1.7 |
4.9-~30 |
| Attributable fractionb |
- |
0.07 |
0.07-0.004 |
aEstimated based on a relative risk of 4.9 and compared woth people with no family history.
bCalculated using Levin's formula37 for population attributable risk.
TABLE 4: Preventive medical practrice in 2002: Results of family history screening for a hypothetical, healthy 23-year-old male
Cardiovascular disease |
One 1st-degree male relative diagnosed after age 60 |
Moderate |
2.0 |
60% |
Colorectal cancer |
Two 1st-degree relatives, one with onset before age 50 |
High |
8.0 |
50% |
Melanoma |
None |
Average |
1.0 |
<1% |
Diabetes type II |
One 1st-degree relative diagnosed after age 60 |
Moderate |
5.0 |
30% |
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