Fetal Genomics Pathways
Advances in genomic testing have resulted in an increase in the availability of prenatal and postnatal genomic testing options for parents.
Genetic testing is now available in the following scenarios – when there is a family history of a likely or confirmed genetic condition, a current pregnancy with an unexpected scan finding, or a pregnancy loss with a likely genetic cause.
Project Overview
Access to prenatal and postnatal genomic testing varies across the North East and Yorkshire for multiple reasons. The NEY GMS worked with the three tertiary fetal medicine and clinical genetics centres in Leeds, Sheffield and Newcastle to try to understand some of the reasons why variation exists, identify and share areas of good practice, and design and evaluate resources to improve equity of access.
The data collected and resources generated led to the current perinatal genomics transformation project, which is supporting the further exploration of equitable access to perinatal genomics in two local Trusts. Experienced midwives have been seconded into this project to provide valuable insights into local services.
Achievements
Regional datasets were interrogated to describe current access to local perinatal genomic services. The findings allowed us to highlight areas for further exploration.
A number of resources (listed below) were developed to educate maternity staff in genomics and provide practical support to help them access timely expertise within the system.
Patient resources were also produced to support families to understand more about genetic testing and make informed decisions about their care.
Genetics Advice in Pregnancy (GAP) was successfully trialled and implemented to improve referral rates into Clinical Genetics Services. It allows direct email access to expert advice for maternity staff if they are uncertain and has led to a noticeable increase in appropriate referrals.
Delphi Consensus was used to capture expert opinion on bereavement care to guide further recommendations.
Collaboration with a range of partners – clinical experts, laboratory colleagues, informatics and communications specialists – proved hugely valuable throughout this project.
Further Information & Resources
Patient Videos and Leaflets – resources have been created (in multiple languages) to provide more personalised support for patients faced with making decisions about having an invasive test during pregnancy.
A number of staff resources have been produced, including:
A Perinatal Genomic (Peri-Gen) Passport – to improve awareness of genomics in pregnancy and facilitate communication of care plans between the pregnant person and the multi-disciplinary team involved in their care. This was developed to overcome the challenges of managing care across different hospitals, due to the lack of shared patient records across our region.
Flash Cards and Role Play Videos – created to increase awareness of the importance of gaining relevant information at the booking appointment.
GeNotes (Fetal and Women’s Health) – the clinical team contributed to the creation of practical genomic resources for clinicians working in women’s health: GeNotes
Contact us to learn more.
Our project team are:
Dr. Kelly Cohen, Project Lead, Consultant in Fetal Medicine
Dr. Jennifer Campbell, Project Lead, Consultant in Clinical Genetics
Denise Barnes, Lead Midwife for NEY GMSA