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Comment
. 2018 Jul 1;110(7):687-689.
doi: 10.1093/jnci/djx282.

Population Testing for High Penetrance Genes: Are We There Yet?

Nicolas Wentzensen  1 , Christine D Berg  1
Affiliations
Comment

Population Testing for High Penetrance Genes: Are We There Yet?

Nicolas Wentzensen et al. J Natl Cancer Inst. .
No abstract available

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Figures

Figure 1.
Figure 1.
Population-wide genetic testing vs testing of high-risk individuals. The figure highlights differences between population genetic testing and genetic testing of women with a family history of a specific cancer using a hypothetical example. In this example, the population is divided into four groups, described here in order of the population prevalence. Most women do not have a mutation and do not develop cancer in their lifetime (gray). The second group includes women who do not have a mutation, but who will develop cancer in their lifetime (yellow). The third group includes women who do have a mutation but do not develop cancer (blue). The fourth group includes women who have a mutation and who develop cancer during their lifetime (red). The subset of women with a family history of cancer is indicated by the dashed box. In this hypothetical example, testing based on family history would be restricted to one-fifth of the population. Population-wide genetic testing would detect two additional cancers, but six additional women who tested negative for mutations would develop cancer, and five additional women would undergo unnecessary interventions compared with genetic testing of women with a family history. The penetrance estimate for the subgroup of women with a family history would be 71%, compared with 50% for the complete population. Accurate estimates of these proportions are important when considering population-wide genetic testing.
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References

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