Cystic Renal Disease Project

The project aims to enable nurses and midwives to deliver a quality assured genomics service, supporting the Genomic Medicine Service’s 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. There are different types of Cystic Renal Disease but Polycystic Kidney Disease (PKD) is the most common. PKD also has more than one type.

Different types of PKD

PKD is an inherited disease. This means it is passed from parents to their children, however not all people with PKD will have a family history.

Autosomal dominant PKD

Autosomal dominant PKD (ADPKD) is the most common inherited form of polycystic kidney disease. A parent with autosomal dominant PKD has a 50 per cent chance of passing the altered gene (PKD1 or PKD2) and associated condition to each of their children. If a person doesn't inherit the gene, there is no chance of their children inheriting the gene because it never 'skips' a generation.

Occasionally, a person develops the condition when there is no family history. It is thought that a different inheritance pattern or perhaps a genetic change may be responsible. Like inherited PKD, the affected person has a 50 per cent chance of passing the altered gene and associated disease to each of their children. Autosomal dominant PKD can lead to kidney failure.

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' function.

There is 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.
• people with CRD may be eligible for Preimplantation Genetic Testing (PGT) and earlier genomic diagnosis can provide an opportunity to prevent CRD being passed on to children.

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 has looked at genomic testing in the PKD/CRD pathway across England. To do this we held workshops with clinicians from different professional groups, including nursing (adult and paediatric), midwifery, genetic counsellors, renal geneticists, nephrologists, and pharmacists. This helped us to understand the patient pathway as it currently exists; where, when, and how diagnosis is made, across the whole lifespan. Next, we overlaid the patient pathway with nursing and midwifery roles to see if a typical role profile exists.

Key milestones

• Project “Kick Off Meeting” December 2022.
• A questionnaire was circulated for renal staff to complete which closed on 4 April 2023.
• We ran workshops in March, April and September 2023 to raise awareness of genetic testing within the current patient pathways, and to identify the current training or information available to renal staff regarding genetics and genetic testing.
• Patient Focus Groups supported by the PKD Charity in March 2023 to learn about the lives experience of patients and relatives in relation to care and diagnosis. Through the patient focus groups we identified people who shared their personal stories with us, and that can be used as teaching aides.
• Co-production of products which aim to support the development of PKD patient pathways that incorporate an offer of genomic testing. The resources include:

1. An infographic in to versions; one for clinicians, and another for patients and relatives. The infographic highlights the opportunities for genomic testing across the lifespan, where to find more information, and the resources available to support decision making.
2. A ‘patient story’ in written and recorded format which shares the experience of a family who accessed genomic testing
3. Renal GeNotes (opens in a new tab) – this is a resource for clinicians working in a secondary care setting to guides them on how to advise and signpost their patients when there are ‘implications for relatives’ who may be at risk of PKD.
4. Clinical Pathway Initiative (opens in a new tab) – this will be published by the National Genomics Education Programme team as a resource to guide clinical teams towards the required competencies to support patients through a genomic testing pathway

Next steps

• Publication of project outputs on this website.
• Editorial approval of the national Genomics Education Programme team and subsequent publication on the Genomics Education Programme website (opens in a new tab).
• Distribution of project outputs to all key stakeholders for use in clinical practice.

Meet our team

• Vicky Carr, East GMSA Lead Nurse: Victoria.carr6@nhs.net
• Katy Blakely, East GMSA Programme Manager, Katy.blakely@nnuh.nhs.uk
• Pauline Simpson, East GMSA Project Manager, Pauline.simpson@nnuh.nhs.uk