Project objectives 

Aims and objectives

The study’s main objective was to explore the feasibility of enhancing identification of familial hypercholesterolaemia (FH) in general practice with the use of patient specific reminders (PSRs).  Secondary objectives included exploring the acceptability of the intervention & supporting material; and exploring facilitators & barriers to implementing genetic testing for FH in general practice.  This was achieved by conducting in-depth semi-structured telephone interviews with patients and GPs.

Changes to original proposal

Due to delay in participant recruitment at practice level, initial recruitment was delayed.  Therefore, a no cost extension was approved in order to complete the semi-structured interviews and subsequent data analysis until 31/03/2017.

Methods, findings against objectives conclusions

Methods

This is a qualitative intervention study.

 Recruitment method

The sampling frame of participants was derived from our previous FH feasibility study (Project ref: 1.78: Feasibility of improving identification of FH in general practice: intervention development study). A purposive sample of 15 GPs and 18 patients from 6 practices (1 rural, I suburban and 4 inner city) within Nottinghamshire were invited by letter to take part in in-depth semi structured interviews.

 Intervention

In depth semi-structured interviews were completed with 15 GPs and 18 patients in order to explore the acceptability and feasibility of proactive identification of FH and

Implementing genetic testing for FH in general practice. 

 Objectives

• Explore and understand experiences of GPs and patients when identifying patients at risk of FH using specific reminders
• Explore and understand the experience of GPs and patients of genetic testing for FH.

 The qualitative study findings will support intervention optimisation for an exploratory trial of improved FH diagnosis in primary care.

Data analysis 

Interviews were analysed thematically and identified categories and themes for coding with QRS, Nvivo software Version 11. All interviews were audiotaped and transcribed verbatim.  The process involved identification of any instances and constant comparisons of common themes until data saturation was achieved. 

Patients were asked to reflect upon their experiences of the study.  Emergent themes were experience of risk communication by the GP, patient’s understanding of cause and treatment options for hypercholesterolaemia, patient experience of further assessment following identification of risk for FH, communicating risk within the family, experience of receiving FH diagnosis by genetic testing.

Conclusions

The study concluded that both GPs and patients were receptive to proactive identification of FH and welcomed the strategy to prevent premature coronary heart disease in affected individuals.  GPs welcomed the study’s use of a family history questionnaire to improve family history recording in general practice, and thus enhance assessment for FH.  Both GPs and patients were receptive to the concept of implementing genetic testing for FH in general practice.  Although GPs shared some initial concerns regarding the premise of possible additional workload, overall this was viewed as negligible and could be overcome by further developing patient pathways, since viewed as important in prevention of premature coronary heart disease.

It was recognised that further developmental studies were needed to explore how key changes to diagnostic pathway could be implemented effectively in general practice.

Plain English summary

Familial Hypercholesterolaemia (FH) is a common inherited cause of raised cholesterol, affecting an estimated 120,000 people in the UK. When left untreated it can lead to heart attacks in affected individual as young as 30-40 years old. This can be prevented by simply starting lipid-lowering treatment early in life. However over 80% of individuals with this inherited condition are still not identified in the UK leading to much avoidable premature coronary heart disease and death. There are clear national guidelines to diagnose FH based on family history, cholesterol levels and findings when patients are examined. The most accurate way to confirm if the cause of raised cholesterol is inherited is by genetic testing. 

We recently setup a study to improve identification of FH in general practice by searching general practices for patients with raised cholesterol and asking them to complete a family history questionnaire. This identified some patients that may have the condition. This was followed by a selection of general practitioners and patients being interviewed about their experience of the study.

The study took place in 6 practices in Nottinghamshire.  General practitioners and patients welcomed the study’s aim and method of improving identification of people at risk of FH and therefore preventing coronary heart disease.  Patients thought the process would be improved if there was more readily available patient information at practices.  General practitioners found that by the study asking patients to return a family history questionnaire this helped them to update their records on family history and therefore help them to assess patient’s risk of FH.  Both general practitioners and patients were receptive to the idea of implementing genetic testing for FH in general practice.

Dissemination

Public involvement

The study team identified two patient representatives in collaboration with our local NHS R&D and the national cholesterol charity, Heart UK. Through these parties, we consolidated patient and public involvement which directly fed into both study design and information leaflets.  Involvement of patients and relevant advocate groups at all stages of our previous research has proved invaluable in helping the research team to further focus the study design, output and dissemination on the needs of the public and the benefits that can be delivered for the community.

Specifically, the PPI representatives contributed to the preparation of ethics applications, protocol, and informed the purposeful sampling and interview schedules for the study.  By forging such links we have been able to involve our PPIs in future planned and related studies and will continue to benefit from their contribution and feedback in future study designs.

Impact

We have continued to collaborate with local CCG leads for Long Term Conditions along with allied specialists in preparation for a proposed NIHR applied programme grant. 

The study team have contributed to and facilitated NICE familial hypercholesterolaemia guidelines and quality standard implementation in local CCGs

The research team will continue to inform and contribute to Heart (UK) primary care implementation strategy

Funded by Nottingham City CCG and based on the MIQUEST data extraction method used within this feasibility study, the study contributed to the development of a primary care ascertainment tool (FAMCAT) using PRIMIS CHART software.

The study outcomes further informed a successful SPCR funded project (external round FR12): Improving identification of familial hypercholesterolaemia in primary care using a new case ascertainment tool (FAMCAT) which commenced on 1^st October 2016. This utilises a new case ascertainment tool (FAMCAT) to detect genetically confirmed new cases of FH in general

Weng, S.F., Kai, J., Neil, A., Humphries, S.E and Qureshi, N. (2015) Improving identification of familial hypercholesterolaemia in primary care: Derivation and validation of the familial hypercholesterolaemia case ascertainment tool (FAMCAT). Atherosclerosis Vol 238 (2) pp 336-343. At:  http://www.atherosclerosis-journal.com/article/S0021-9150(14)01656-6/abstract

Based on this feasibility study and funded by Nottingham City CCG we submitted a Cochrane Review Proposal which has been accepted by the Cochrane Cystic Fibrosis and Genetics Disorders Group: Improving Identification of Familial Hypercholesterolaemia in non-specialist clinical settings.  The review protocol is currently in editorial phase within the Cochrane Group

This project was funded by the National Institute for Health Research School for Primary Care Research (project number 266)

Department of Health Disclaimer

The views and opinions expressed therein are those of the authors and do not necessarily reflect those of the NIHR School for Primary Care Research, NIHR, NHS or the Department of Health.