My Fulbright scholarship with the Genomes2People program and the International Consortium of Newborn Sequencing will help me gain expertise in using genomics in healthy populations. The aim is to translate the potential of genomic data into a cost-effective lifetime resource to improve population health and wellbeing.
Dr Lilian Downie is a clinical geneticist and researcher with a focus on translational genomics. Her clinical work is in perinatal and reproductive genetics, and her research focuses on implementing genomic technology for diagnostics, screening and population health.
Lil’s proposal is to design a life cycle genomics model. This would start with sequencing a baby’s DNA as part of newborn screening and then offering re-analysis at defined timepoints to identify risk of conditions that are treatable or avoidable if addressed early. The data would also be accessible for analysis if someone developed symptoms or became acutely unwell to aid diagnosis.