We are collecting information on genomic testing for unborn babies. Our project covers the East of England and East Midlands and we are focussing on the delivery of R21 – or prenatal rapid exome sequencing.
What is rapid exome sequencing?
Rapid prenatal exome sequencing is relatively new within the NHS. It looks for a limited number of specific fetal anomalies. The test reads all the DNA letters in the fetal exome – the part of the genome where most changes that cause genetic conditions are found. DNA differences between an unborn baby and their parents are looked for, to find changes that may be causing a genetic condition.
This type of testing is available on the National Genomic Test Directory. It is intended for pregnancies where an ultrasound scan reveals multiple foetal anomalies with a likely monogenic cause. This means caused by a variation in a single gene. Testing is provided by all seven Genomic Laboratory Hubs in England.
What are we doing?
Our aim is to identify any existing differences in terms of access to this type of genetic testing. This is to ensure people get equal access to services, no matter where they live, or which hospital they are treated at.
Our project will establish baseline data on current provision of the R21 pathway across prenatal teams in the East GMSA region. This will include:
- Mapping all Feto-Maternal and prenatal teams within the region
- Undertaking engagement to understand current pathways, including gaps and challenges
- Baseline activity data for R21
By September 2023 we will provide a set of recommendations for achieving a standardised R21 pathway within the region. Our aim is to establish what best practice looks, in order to present to stakeholders an evidence-based model for providing equal care for all patients eligible for prenatal exome sequencing.
Who are we working with?
- Feto-Maternal and prenatal services across the East GMSA region.
Progress and next steps
- Scope agreed with key stakeholders following survey in December 2022.
- Recruitment undertaken for Feto-Maternal Senior Midwifery Project Lead – start date tbc
- Further engagement with teams to take place once Project Lead is in post, likely to start in February 2023, with project completing in September 2023.
- We will provide a set of recommendations for achieving a standardised R21 pathway within the region, including what best practice looks like, so stakeholders have an evidence-based model for providing equal care for all patients eligible for PES (by Sep 23).
Useful links for healthcare professionals
Meet our team
- Katarzyna Gajewska-Knapik, Prenatal Care Lead for Genomic Services EGMSA and Consultant in Obstetrics and Feto-Maternal Medicine Subspecialist, Cambridge University Hospitals NHS Foundation Trust (email@example.com)
- Lauren Capacchione, Feto Maternal Senior Midwifery Project Lead (firstname.lastname@example.org)
- Melissa Cambell-Kelly, Associate Nurse EGMSA (email@example.com)
- Katy Blakely, Regional Programme Manager, EGMSA (Katy.firstname.lastname@example.org)