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Genomics: Introduction and importance in O&G

Genomics in the UK

The UK is fast becoming a leader in the science and application of genomics which is already revolutionising the way we practise medicine. The unique 100,000 genomes project provided a kick start to a national approach to genomic diagnosis and therapy.

Our NHS is fully committed to the delivery of this revolution in practice, and expects all clinicians to have a working understanding of genomics in their specialty, as well as being aware of changes in the way that the genetics services will support that shift.

Why is this important?

Genomics is already an essential part of routine antenatal care as it underlies key aspects of preconceptual, preimplantation, prenatal and postnatal genetic diagnosis. Taking care of the mother and of the next generation is our primary purpose, making Transgenerational Genomics important and unique to our speciality.

In addition, the incorporation of genomic testing of cancers and pharmacogenomics is playing a central role in the diagnosis and treatment of gynaecological malignancies.

Our profession must stay at the forefront

The rapid advances in genomics are taking our specialty into some of the most controversial areas of genomics, including Next Generation Sequencing (NGS) for preimplantation genetic testing (PGT), prenatal whole genome sequencing (WGS), and the possibility of extending the postnatal heel prick ‘Guthrie test’ with whole genome screening.

It's important for us as a profession to become fully engaged with the new technologies and to participate in the decisions that affect our patients.

Our genomic challenge

The pace of change is rapid and dramatic, with information from only 5 years ago now becoming out of date. Although some of our trainees are developing in this new world, the RCOG is aware that many of our members qualified long before this, and will need help getting up to speed, so that their practice does not lag behind the expectations of the NHS genomics programme.

Our commitment

The RCOG is committed to ensuring that all members of our profession – trainees, consultants, midwives and SAS doctors – receive the appropriate level of education in genomics either as part of self-directed learning or as part of formal meetings. These web pages have been constructed as a first step to fulfil this need.