Professor Catherine Williamson
Imperial College London
Genomic technology has developed rapidly in recent years such that whole exome sequencing (WES) and, more recently, whole genome sequencing (WGS) is available for many conditions where this may assist with making a diagnosis and individualising therapies. In the UK this may be through clinical pathways (e.g. for monogenic diabetes mellitus) and the NHS genomic medicine service (e.g. intrahepatic cholestasis of pregnancy). Genomics is also improving the understanding of the aetiology of gestational/ developmental disorders through targeted research programs such as the Genomics England-funded Prestige-PTB study for preterm birth. Similarly, pharmacogenomics is transforming and informing decisions around selection of drugs for genetic disorders and conditions with somatic mutations affecting drug efficacy, e.g. cancer.
Developments in genomics are of key relevance to maternal medicine. This talk will consider the impact of genomic technologies on understanding individual susceptibility to maternal medical disorders (both rare and common) in addition to the ways that fetal inheritance of specific genetic variants can influence pregnancy outcome. It is important to also consider ways to maximise access to genomic technologies, and to minimise inequalities related to geographic, economic and ethnic differences. Despite recent efforts, worldwide genomic datasets that inform variant interpretation remain predominantly composed of individuals of European ancestry. Education in genomics will be a priority going forward, as to deliver targeted diagnosis and therapies requires a workforce that is aware of the impact of genomics on obstetric medical disorders and practice.