Improving Identification of Familial Hypercholesterolaemia in Primary Care (FAMCAT)

Study Overview
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Brief Summary
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Multi-centre, non-randomised, non-controlled quasi-experimental study with nested qualitative study and economic appraisal. Improving the identification of patients at high risk of cardiovascular disease in primary care, caused by conditions such as familial hypercholesterolaemia (FH), is a well-recognised national priority to prevent morbidity and mortality by early effective intervention. This study will prospectively evaluate the clinical utility of the new primary care FH identification tool (FAMCAT) for identifying undiagnosed FH in routine primary care practice; and to assess its appropriateness, acceptability and cost-effectiveness. This study will answer the following research questions (RQ): What is the detection rate for new genetically-confirmed FH cases using the FAMCAT algorithm? Is the FAMCAT tool appropriate and acceptable to practitioners and patients? How can the FAMCAT tool be optimised to improve identification of FH? What is the potential cost-effectiveness of the FAMCAT tool compared with current practice to identify patients with FH? Can the FAMCAT intervention be improved? What definitive study design and outcome measures are needed to provide robust evidence on whether to introduce FAMCAT into primary care practice? RQ(1) & (3) will be answered by a quasi-experimental diagnostic accuracy study; RQ(2) & (5) answered by qualitative study; RQ (4) answered by economic appraisal and RQ(6) informed by all previous studies.

Official Title
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Improving Identification of Familial Hypercholesterolaemia in Primary Care Using a New Case Ascertainment Tool (FAMCAT)

Conditions
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Familial Hypercholesterolemia

Intervention / Treatment
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* Other: FAMCAT


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Patients - General practices Able to give written informed consent 18 years of age or over Serum cholesterol recorded in General Practice (GP) electronic records Registered with a participating GP practice Able to complete the self-administered questionnaires in English No previous recorded diagnosis of familial hypercholesterolaemia in their GP electronic health records Considered by their General Practitioner(s) to be appropriate to recruit to the study. Patients - Secondary care Able to give written informed consent 18 years of age or over Referred to or under the care of participating Trusts (e.g. lipid clinics) Able to understand the study information and consent in English Considered by their healthcare professions to be appropriate to recruit to the study. Staff Able to give written informed consent 18 years of age or over Working at a participating General Practice, Clinical Commissioning Group (CCG) or Secondary Care Trust. Nominal Group Able to give written informed consent 18 years of age or over A FH stakeholder (including specialists, primary care commissioners, FH patient representative) Exclusion Criteria: Patients - General practices Unable to give written informed consent Under 18 years of age Serum cholesterol not recorded in GP electronic records Not registered with a participating GP practice Unable to complete the self-administered questionnaires in English Has a diagnosis of familial hypercholesterolaemia in their GP electronic records Unable to have a blood test (for medical or personal reasons) Have an opt-out code where patients has declined electronic medical records examined Considered by their General Practitioner(s) to be inappropriate to recruit due to psycho-social reasons, participating in another related clinical trial or significant health reasons, e.g. terminal illness/diagnosis. Patients - Secondary care Unable to give written informed consent Under 18 years of age Not referred to or under the care of participating Trusts (e.g. lipid clinics) Unable to understand the study information and consent in English Considered by their healthcare professionals to be inappropriate to recruit to the study. Staff Unable to give written informed consent Under 18 years of age Has not worked at a participating General Practice, CCG or Secondary Care Trust. Nominal Group Unable to give written informed consent Under 18 years of age Not an FH stakeholder or FH patient representative

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Diagnostic
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Other: FAMCAT<br> | Other: FAMCAT<br>* The intervention is a computer-based software algorithm (FAMCAT) for use in general practice with a family history questionnaire.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Detection of genetically confirmed new FH cases using case identification tool (FAMCAT) | Efficacy measure: Proportion (%) of genetically-confirmed FH cases Proportion (%) of genetically-confirmed FH cases | Through study completion, an average of 2 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Acceptability of FAMCAT | Efficacy measure: representativeness of qualitative interview sample. Key themes will be identified from qualitative interview transcripts of patient experience of participating in the study, acceptability of the study procedures (ie. location of blood test clinic appointments, waiting time to receive test results) , and appropriateness of methods of contact with study participants (ie. format and content of study materials, communicating test results). Key themes on usability will be identified from qualitative interview transcripts of health care professionals who used the FAMCAT tool clinically (ie. search criteria for clinical records, interpretation of results) | Through study completion, an average of 2 years. | 
| Appropriateness of FAMCAT | Efficacy measure: representativeness of qualitative interview sample. Key themes will be identified from qualitative interview transcripts of patient experience of appropriateness of methods of contact with study participants (ie. format and content of study materials, communicating test results). | Through study completion, an average of 2 years. | 
| Usability of FAMCAT | Efficacy measure: representativeness of qualitative interview sample. Key themes on usability will be identified from qualitative interview transcripts of health care professionals who used the FAMCAT tool clinically (ie. search criteria for clinical records, interpretation of results) | Through study completion, an average of 2 years. | 
| Self-reported anxiety measures for use in a future trial | Anxiety measured using 6 item Spielberger State-Trait Anxiety Inventory (STAI). The total score will be calculated at study entry, after receiving genetic test results and 12- 15 months after genetic tests results received | Baseline to 15 months after genetic test results reported | 
| Self-reported lifestyle change measures for use in a future trial | Stages of change for smoking cessation and physical activity will be measured. The five stages of change will be dichotomised into: (1) pre-contemplation, contemplation and preparation and (2) action/maintenance. The distribution of proportions for each measure will be presented at study entry, after receiving genetic test results and 12- 15 months after genetic tests results received | Baseline to 15 months after genetic test results reported | 
| Beliefs about predisposition to coronary heart disease | Beliefs on causes for heart disease were assessed using 8 items, from a total of 18 items, which comprise the 'Causes of my illness' subscale in the Revised Illness Perception Questionnaire, IPQ-R. The distribution of data for each one of the 8 questions will be presented at study entry, after receiving genetic test results and 12- 15 months after genetic tests results received | Baseline to 15 months after genetic test results reported | 
| Cost-effective FAMCAT threshold to identify genetically confirmed FH | Efficacy measure: Primary analysis: Incremental cost-effectiveness ratio (ICER) of FAMCAT compared to Simon-Broome criteria; Sensitivity analysis: Incremental costeffectiveness ratio (ICER) of FAMCAT at different testing thresholds. Short-term model: 24 Months | through study completion, an average of 2 years |