Genetics and gynaecological disease

Abstract

The large number of gene–disease associations that have been discovered through the use of high-throughput genomics have revolutionized our understanding of complex disease biology. Genomics holds ample scope from the clinical perspective, particularly with regards to disease risk prediction, improving disease classification, risk stratification and drug selection. Elucidating the functional impact of genomic variants is a critical challenge that should further facilitate the ‘bench to bedside’ translation. Additionally, healthcare systems need to acknowledge the necessity of updating and adapting current practices to ensure direct and cost-effective translation of modern genomics to the clinic.