Developing a clinical pathway to support nurse led whole genome sequencing for neurological diseases

Details

In this project we will develop pathways to enable specialist nurses to request whole genome sequencing (WGS) for adult neurology patients throughout the NHS; improving the efficiency of the process, freeing consultant neurologist time and improving equity of access. In addition to classic monogenic conditions such as Huntington’s disease (HD), the majority of adult neurological conditions have a genetic component to their aetiology. Identifying a genetic cause can prove crucial to management. For example, selection of anti-epileptic drugs in Dravet syndrome and access to Tofersen in SOD-1 linked motor neuron disease (MND). A genetic diagnosis can also inform prognosis (e.g. cognitive decline in GBA1 associated Parkinson’s disease) and family planning (access to preimplantation genetic testing). The nurse-led WGS pathways for adult neurology clinics we develop as an output will directly facilitate access to the benefits of a genomic diagnosis.

 Is a nurse-led WGS pathway acceptable to stakeholders?

The student will undertake qualitative interviews with specialist nurses, consultant geneticists and consultant neurologists to explore their views on the acceptability of a nurse led WGS pathway. The interviews will be semi-structured and guided by an interview schedule. Topics will include stakeholder views on the potential benefits of nurse-led WGS, views on the capacity and competency of the current specialist nurse workforce to undertake this and potential negative impacts on neurology services. Interviews will be transcribed and analysed using a grounded theory approach. 

What are patient and relative views on current WGS provision in adult neurology?

Qualitative interviews will be undertaken with a range of neurology patients (MND =5, epilepsy =5, dementia =5) to explore their views on how WGS is currently offered. Their views on a potential nurse-led service will be explored. 

What are the preferences for stakeholders in how nuse-led WGS is offered?

Based on our findings, we will propose alternative models for delivering nurse-led WGS in adult neurology. For example, in person or video clinic; on the same day as the neurology consultant clinic or later. We will undertake a discrete choice experiment with clinicians to establish clinician preferences. Various clinic options will be presented, along with the cost and time implications for the service, and clinicians asked to express a preference based on this.  We will undertake an online survey of neurology patients (n=100) and relatives (n=100) to establish the preferences of service users. This will inform the model for the way in which nurses offer WGS, but not the precise components of the nurse-led WGS pathway. 

Developing resources to support a nurse-led WGS pathway

We will follow the NHS Genomic Medicine Service Clinical Pathway Initiatives protocol to identify the component parts of a pathway for nurse led WGS in adult neurology.    We will identify the knowledge, skills and competencies required by specialist nurses to offer WGS. We will undertake an environment scan to identify published competency frameworks for requesting WGS. We will undertake interviews with specialist neurology consultants, genetics consultants and nurses to identify neurology specific knowledge and skills that might not be covered by generic WGS frameworks. These will be synthesised into a description of the knowledge, skills and competencies required by specialist nurses to offer WGS. This will identify the components of the nurse-led pathway to place within the service model defined in the study.

Entry Requirements:

Candidates must have a first or upper second class honours degree or significant research experience. 

How to apply:

Please complete a University Postgraduate Research Application form available here: https://www.sheffield.ac.uk/postgraduate/phd/apply/applying.

Please clearly state the prospective main supervisor in the respective box and select ‘School of Medicine & Population Health: Neuroscience’ as the department.

Enquiries:

Interested candidates should in the first instance contact – Dr Alisdair McNeill [email protected]

Proposed start date – October 2024