BORN SEQUENCED: SHOULD PHARMACOGENETICS START ON DAY ONE?

Individual Abstract This presentation encourages an interactive exchange if pharmacogenetic testing should be considered for newborns. Current evidence and expert guidelines support implementing pharmacogenetic testing at the bedside and is gaining traction in clinical practice. However, delays between sample collection (e.g., cheek swab) and result reporting are frequently cited as barriers to wider implementation. The prospect of providing pharmacogenetic testing at birth would mitigate this limitation, but raises a fundamental question at the intersection of precision medicine, ethics, and public health: should genomic information guiding drug response be universally available from the very start of life? Proponents argue that preemptive pharmacogenetic profiling could enhance medication safety and efficacy across the lifespan. Early identification of variants affecting drug metabolism (e.g., in CYP enzymes or transporters) may reduce adverse drug reactions, enable faster therapeutic optimization, and support more rational prescribing in pediatrics and beyond. From a systems perspective, embedding such data in electronic health records could create long-term efficiencies, avoiding repeated testing and facilitating population-level learning. On the other side, substantial challenges temper this vision. First, the clinical utility of many pharmacogenetic markers remains context-dependent, with variable evidence across drugs and populations. The predictive value of testing at birth may therefore be limited in time, particularly as pharmacotherapy evolves. Second, ethical concerns arise around consent and autonomy: newborns cannot consent, yet results may have lifelong implications, including incidental findings or reinterpretations as science advances. Issues of data privacy, potential misuse, and inequitable access further complicate implementation, risking exacerbation of existing health disparities if benefits are not evenly distributed. This approach might be even more challenging in the context whole genome sequencing scenarios. Economic considerations are also unresolved. While upfront testing may reduce downstream costs, robust cost-effectiveness data across diverse healthcare systems are limited. Additionally, infrastructure requirements—including data storage, clinical decision support, and provider education—pose nontrivial barriers. In conclusion, while pharmacogenetic testing at birth holds promise as a cornerstone of lifelong precision medicine, ethical and public health challenges are yet not globally resolved likely favoring a more targeted approach for the time being. Selective testing in high-risk contexts, coupled with ongoing evaluation of clinical utility, ethical safeguards, and equitable access, may represent a pragmatic path forward until broader implementation is justified.