Personalized Cancer Screening Based on Genetic Risk
Author Information
Author(s): Pashayan N, Duffy S W, Chowdhury S, Dent T, Burton H, Neal D E, Easton D F, Eeles R, Pharoah P
Primary Institution: Institute of Public Health, University of Cambridge
Hypothesis
Can a personalized screening approach based on polygenic risk profiles improve the efficiency of prostate and breast cancer screening compared to standard age-based screening?
Conclusion
A personalized screening approach could improve the efficiency of screening programs, potentially informing public health policy on cancer screening.
Supporting Evidence
- Personalized screening could reduce the number of people eligible for screening while still detecting most cancers identified through age-based programs.
- Screening based on polygenic risk may allow for earlier detection of cancer in younger individuals at high risk.
- Fewer screening tests may reduce anxiety and the harms associated with false positives.
Takeaway
This study suggests that using genetic information to decide who should be screened for prostate and breast cancer could help find cancers earlier while reducing unnecessary tests for others.
Methodology
The study modeled the efficiency of personalized screening based on age and polygenic risk profiles compared to standard age-based screening.
Potential Biases
The study acknowledges potential biases related to the normal distribution of polygenic risk and the assumptions made in the modeling.
Limitations
The study did not estimate the expected number of cases detected following a screening program, as this would depend on screening program sensitivity.
Participant Demographics
The study focused on men aged 45-79 for prostate cancer and women aged 35-79 for breast cancer in England.
Digital Object Identifier (DOI)
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