The Elective Genome: What We Owe the Healthy Patient Who Asks to Be Sequenced

Abstract

Population genetic screening has historically followed a single logic: test the many to protect the few who are silently at risk. Elective genomic testing (EGT), in which healthy adults request genome or exome sequencing independently of phenotype or family history, extends that logic rather than departing from it. This editorial traces the lineage of EGT through newborn screening, expanded carrier screening and CDC Tier 1 population genomic screening, and argues that a single elective genome returns three complementary layers of information: rare, actionable monogenic findings; near-universal pharmacogenomic results relevant to future prescribing; and polygenic risk estimates for common chronic diseases. Published evidence on morbidity, mortality and cost-effectiveness supports the value of Tier 1 findings, while our own 400-person program in a Spanish checkup clinic identified clinically relevant variants in 19.8% of asymptomatic adults. Important gaps remain, including penetrance estimates derived from ascertained families, under-representation of non-European ancestries in reference databases and polygenic scores, downstream healthcare costs, and limited legal protection against genetic discrimination. We argue that EGT should be delivered as a longitudinal, participatory clinical service with proportionate counseling, curated gene panels, standardized handling of variants of uncertain significance, and quality assurance across the entire testing pathway. Building this infrastructure, rather than expanding test menus, is the work that lies ahead.