Scientific Rationale
Population screening for genetic conditions involves identifying individuals with pathogenic genetic variants before the onset of disease, allowing for timely interventions that can prevent or mitigate health issues. The benefit of population screening in disease prevention depends on the prevalence and clinical outcomes caused by the selected genes. While some genes, such as LDLR for familial hypercholesterolemia and BRCA2 for breast cancer, are well-established for population screening, many others remain unexplored in this context. Additionally, even well-established genes may benefit from further phenotypic characterization to enhance precision care for associated conditions. Our research will explore genes and variants related to cardiovascular disease, cancer, neurodevelopmental disorders, kidney disease, and mental health conditions, among others.
Research Question(s)
What is the prevalence of established and candidate genes for population screening in the UK Biobank?
What are the genotype and phenotype correlations associated with established and candidate population screening genes in the UK Biobank?
How do common small-effect genetic variants contribute to phenotypic differences among those with pathogenic variants in established and candidate population screening genes?
Research Objective(s)
Quantify the prevalence of pathogenic variants in genes identified as established or candidates for population screening.
Comprehensive descriptions of the natural history of genetic conditions that are established or candidates for population screening in the future. We will perform genetic epidemiological approaches including phenome-wide association studies to broadly examine the correlation between pathogenic variants in established or candidate genes for population screening.