Our project focussed on the delivery of the R21 test – or prenatal rapid exome sequencing. The project was completed in November 2023 and covered the East of England and East Midlands.
What is rapid exome sequencing?
Rapid prenatal exome sequencing (opens in a new tab) is relatively new within the NHS. It looks for a limited number of gene changes responsible for specific fetal anomalies. The test reads all the DNA (opens in a new tab) letters in the fetal exome (opens in a new tab) – the part of the genome (opens in a new tab) 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 (opens in a new tab). It is intended for pregnancies where an ultrasound scan reveals 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 we did
Our aim was 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 established baseline data on current provision of the R21 pathway across prenatal teams in the East GMSA region. This included:
- Mapping all Fetal Medicine and prenatal teams within the region.
- Undertaking engagement to understand current pathways, including gaps and challenges.
- Baseline activity data for R21.
Watch our R21 Genomics BITE education session
Watch our R21 Genomics BITE learning session from 26 September 2023
Who we worked with
- Feto-Maternal and prenatal services across the East GMSA region.
Progress and next steps
- Resources have been developed for healthcare professionals to support awareness of the R21 testing criteria and pathway overview.
- Completed a Clinical Pathway Initiative for the R21 test.
- E-learning module is in the final stages of development and will be circulated to all stakeholders when available.
- Templates developed to improve data capture of prenatal testing activity and service user feedback.
- Establishment of the East Genomics Prenatal Forum to support ongoing discussions between prenatal health professionals within our region.
Useful links for patients
- Genetic tests that give a diagnosis (definite yes/no answer) - Antenatal Results and Choices (ARC) website (opens in a new tab)
- Prenatal Invasive Testing videos and information (opens in a new tab):
- Family History of a Known Genetic Condition
- Following a Higher Chance Screening Result
- Following an Unexpected Ultrasound Finding
Meet our team
- Katarzyna Gajewska-Knapik, Prenatal Care Lead for Genomic Services, East GMSA and Consultant in Obstetrics and Feto-Maternal Medicine Subspecialist, Cambridge University Hospitals NHS Foundation Trust (firstname.lastname@example.org)
- Lauren Capacchione, Feto Maternal Senior Midwifery Project Lead, East GMSA (email@example.com)
- Jo Hargrave, Lead Midwife, East GMSA (Joanne.Hargrave@nnuh.nhs.uk)
- Melissa Cambell-Kelly, Associate Nurse, East GMSA (firstname.lastname@example.org)
- Katy Blakely, Regional Programme Manager, East GMSA (Katy.email@example.com)