Doctor about to begin operation on a pregnant woman in surgery

Genomics in practice: obstetrics and gynaecology

Dr Edward Morris explains the important role played by genomics in the practice of obstetrics and gynaecology – and its impact on patient care

As a programme involved with the implementation of genomics across the NHS, we’re always on the lookout for real-world examples of how genetics and genomics are being used in practice.

Here, we speak to the president of the Royal College of Obstetricians and Gynaecologists (RCOG), Dr Edward Morris, who explains how genomics is being implemented in his field, the importance of effective training, and the benefits and challenges that come with adopting these new technologies.

How do you use genomics in your daily practice?

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 raison d’être, making ‘transgenerational genomics’ important and unique to our speciality.

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

What is the promise of genomics and how may it improve obstetric and gynaecological care?

The rapid advances in genomics are taking our specialty into some of the most controversial areas of genomics: next-generation sequencing (NGS) for preimplantation genetic testing (PGT), prenatal whole genome sequencing, and the possibility of extending the postnatal blood spot or ‘Guthrie test’ with whole genome screening.

The use of mitochondrial replacement therapy for parents who have pathogenic genetic variants in their mitochondrial DNA (mtDNA) – for which the UK has developed unique legislation and regulation -, and the future possibilities of heritable human genome editing, the subject of a recent consensus study report from the US National Academies of Medicine and Sciences and the UK Royal Society – to which we contributed, are also interesting.

You recently completed one of the courses run by the Genomics Education Programme – would you recommend it and why?

As a college, one of our key challenges is engaging the generation of practising obstetricians and gynaecologists who trained prior to the genomic era. Part of this is the encouragement of all our clinicians (and also midwives, working collaboratively with the Royal College of Midwives) to take it upon themselves to improve basic knowledge in genomics.

I decided that it would be appropriate for me and my fellow senior officers of the RCOG to lead by example and take some of the excellent courses being offered by the programme. I took the course Genomics 101: Genomics in Healthcare to get the ball rolling and found that this course reinforced some areas I knew about already, but also further inspired me to go out and find more information about different areas, such as pharmacogenomics.

What are the challenges of embedding genomic medicine into standard care pathways in your field?

The rapidity of changes and progress in the field means that we need to encourage all members of our profession – and those allied to it – to be familiar with the new technologies, as well as those that might be coming. To that end, we have established a genomics taskforce with a membership of highly knowledgeable individuals, broad in their expertise and chaired by King’s College London emeritus professor of obstetrics and gynaecology, Professor Peter Braude.

As part of its overall remit to embed genomics in the obstetrics and gynaecology discipline, the taskforce will review the available education resources, in order to direct our professionals to relevant existing online teaching sites and, further, to develop a series of bespoke teaching materials where there may be gaps.

How will the taskforce ensure that its recommendations are effective?

We have divided our recommendations according to levels of knowledge: those who have little or no previous experience; those in training; and those who wish to extend their knowledge into more specialist areas. For example, we would recommend the GEP’s online course, Genomics 101: Investigating the Genome Parts 1 and 2, and also the NIPT training programme by FutureLearn (free to NHS employees), to all clinicians and midwives.

For those who wish to progress further, we have also highlighted the excellent Whole Genome Sequencing: Decoding the Language of Life and Health programme, which will run again this November.

The taskforce will also seek to develop an MSc programme in transgenerational genomics tailored to our specialty, building on the broad MSc in Genomic Medicine course offered by the GEP, and we are in discussion with HEE to do so.

What is the impact of incorporating genomics on patient care?

I feel that clinicians really do need to understand the fundamental principles of genomics and how they apply to their chosen specialty. I have already had patients come to me to talk about genomic tests that they have paid to have done independently. Having even a basic understanding allows an appropriately professional response to such queries, and the knowledge to seek further expertise, if required. While this is far from an everyday experience at the moment, I do not feel it will be too long before it is.

Dr Edward Morris is the president of the Royal College of Obstetricians and Gynaecologists, a consultant gynaecologist at Norfolk and Norwich University Hospital and honorary senior lecturer at the University of East Anglia.

Find out more about genomics in different medical specialties on our dedicated web pages, featuring resources, courses and interviews with clinicians.