title: Assessing the risks and benefits of diagnosing genetic conditions with variable phenotypes through population screening: Klinefelter syndrome as an example.
abstract: Consideration of postnatal population-based genetic screening programs is becoming increasingly common. Assessing the medical and psychosocial impacts of this can be particularly complex for genetic conditions with variable phenotypes, especially when outcomes may be more related to quality of life rather than reducing physical morbidity and mortality. In this article, we present a framework for assessing these impacts, by comparing diagnosis and non-diagnosis at different age points. We use the example of Klinefelter syndrome, a common yet frequently under-diagnosed genetic condition for which interventions are available. This framework can be used to supplement established screening guidelines and inform decision-making.
authors.affiliation: Public Health Genetics, Murdoch Childrens Research Institute, Royal Children's Hospital, 10th Floor, Flemington Road, Parkville, VIC, Australia, 3052, amy.herlihy@mcri.edu.au.
authors.forename: Amy Simone
authors.initials: AS
authors.lastname: Herlihy
authors.forename: Jane
authors.initials: J
authors.lastname: Halliday
authors.forename: Rob I
authors.initials: RI
authors.lastname: McLachlan
authors.forename: Megan
authors.initials: M
authors.lastname: Cock
authors.forename: Lynn
authors.initials: L
authors.lastname: Gillam