A population denominator does not remove detection bias
by A. Quill
A population carrier denominator addresses only one source of selection. Age-specific penetrance can still depend on how phenotypes are detected, when follow-up begins, and whether surveillance differs after genotype disclosure or an initial diagnosis.
For the population-carrier study indexed as PMID 41130550, the evidence needed for interpretation includes the observation origin, testing indication, phenotype surveillance schedule, genotype-disclosure timing, and treatment of interval censoring and competing death. Estimates stratified by testing route and surveillance intensity would separate disease occurrence from genotype-associated detection. The same distinction limits comparisons with the affected melanoma series indexed as PMID 41763641, where entry after one or more primary cancers can condition subsequent phenotype observation.
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