Cystic Renal Disease Project

2 min read

This project covers the Cystic Renal Disease (CRD) pathway within Midwifery and Nursing across the East Of England. It is to enable nurses and midwives to deliver a quality assured genomics service, supporting the Genomic Medicine Service ambition of increasing appropriate genomic testing / treatment for all patients and families who might benefit.

We want to understand the role of nursing and midwifery within the CRD pathway and identify opportunities for embedding genomics. Genomic testing is an additional clinical tool to streamline CRD diagnoses and personalise medicine to inform follow up and surveillance. By increasing access to genomic testing we can assess patients more accurately to determine if certain treatments will be beneficial.

What is Cystic Renal Disease?

Cystic Renal Disease (CRD) is an inherited condition that causes small fluid-filled sacs called cysts to develop in the kidneys.

Although children affected by CRD are born with the condition, it rarely causes any noticeable problems until the cysts grow large enough to affect the kidneys' functions.

CRD is caused by a genetic fault that disrupts the normal development of some of the cells in the kidneys and causes cysts to grow.

There's currently no cure for CRD, however:

a healthy lifestyle may help to protect kidney function
various treatments are available to manage problems caused by the condition

The outlook for CRD is highly variable. Some people experience kidney failure soon after the condition is diagnosed, whereas others may live the rest of their life with their kidneys working relatively well. On average, around half of people affected require treatment for kidney failure by the time they're 60.

What are we doing?

Our project aims to embed genetic testing into the CRD Pathway across the East of England. This will enable patients and their families to be offered genetic testing.

Understanding the patient pathway as it currently exists; where, when and how diagnosis is made, across the whole lifespan overlaying the patient pathway with nursing and midwifery roles to see if a typical role profile exists.

As part of this we will explore which other professional groups are involved in the cystic renal disease patient pathway. The project will be conducted in two Phases.

Who are we working with?

We are engaging the following staff groups across the East GMSA region:

Lead Nurses
Nurses
Midwifes
Consultant Nephrologists
Renal staff
Renal Consultants (Adult and Paediatric)

Key milestones

Project “Kick Off Meeting” in Decemer 2022.
Three workshops took place during March 2023 to raise awareness of genetic testing within the current patient pathways, and to identify what current training or information is offered to renal staff regarding genetics and genetic testing
We also held two Patient Focus Groups with the PKD Charity in March 2023 through which we we identified patient stories that can be used as teaching aides.
A questionnaire was also circulated for renal staff to complete which closed on 4 April 2023.

Next steps

Input into / provide recommendations to national CRD Clinical Pathway Initiatives
Support the development of Renal GeNotes for primary and secondary care
Work in partnership with PKD Charity to record patient stories
Produce infographic to show the opportunities for genomic testing throughout the CRD pathway

Watch our Kidney Genomics BITE-sized session from March 2023