Penetrance Estimation in Family-based Studies with the penetrance R package

Reliable methods for penetrance (age-specific risk among those who carry a genetic variant) estimation are critical to improving clinical decision making and risk assessment for hereditary syndromes. We introduce penetrance, an open-source R package, to estimate age-specific penetrance using family-history pedigree data. The package employs a Bayesian estimation approach, allowing for the incorporation of prior knowledge through the specification of priors for the parameters of the carrier distribution. It also includes options to impute missing ages during the estimation process, addressing incomplete age information which is not uncommon in pedigree datasets. Our software provides a flexible and user-friendly tool for researchers to estimate penetrance in complex family-based studies, facilitating improved genetic risk assessment in hereditary syndromes. The penetrance R package is freely available on CRAN, with accompanying documentation and examples.