Shared learning database

Royal Brompton and Harefield NHS Foundation Trust
Published date:
December 2018

NICE guidance CG71 (1.2.1) states that first, second and third-degree biological relatives of people with a genetic diagnosis of Familial Hypercholesterolaemia (FH) should be offered cascade testing. In 2012 when this project was launched, the provision of FH genetic testing centres across the UK was limited. In order to capture relatives that would have otherwise been missed due to geographical location, and ensure continuity of care across families, we implemented a telephone genetic screening service specifically for relatives of those who already have a molecular diagnosis of FH.

Guidance the shared learning relates to:
Does the example relate to a general implementation of all NICE guidance?
Does the example relate to a specific implementation of a specific piece of NICE guidance?


Aims and objectives

FH is one of the most common inherited conditions affecting approximately 1 in 270 people across the UK. It manifests as the reduced ability from birth to metabolise low density lipoprotein (LDL) in the blood which can accelerate atherosclerosis and therefore early onset Coronary Heart Disease (CHD). With early diagnosis and treatment, the incidence, mortality and morbidity of CHD can be reduced.

As NICE QS41 statement 5 supports that cascade testing for FH should be a nationwide and systematic process, our aims were to:

a) Increase diagnosis of FH in the UK by way of offering a convenient route for patients to access cascade screening, therefore supporting NICE guidance CG71 (1.2.2)

b) Enhance the continuity and quality of care delivered to patients who require cascade screening by ensuring the whole family is managed by the same FH clinical team, therefore supporting NICE guidance CG71 (1.2.2)

c) Reduce the need for venepuncture for the comfort of patients, in particular, paediatrics, through the use of buccal swabs. CG71 (1.2.1).

Reasons for implementing your project

In 2012, the provision of genetic testing centres in England was limited. Patients not situated near a centre that offered FH genetics testing would either be inconvenienced by travelling long distances, or, would not be able to attend at all. This resulted in inequality of healthcare provision across postcodes.

The logistics of cascade screening family members in the outpatient department with varied geographical locations across the UK was problematic. Not only was there limited clinic capacity, but requesting attendance for this appointment would potentially result in patients having to travel long distances, with time and cost implications. This did discourage patients from attending, thereby reducing the diagnostic yield.

The alternative method was to request that GP’s refer such patients to the nearest FH cascade screening centre which could still be quite some distance away from the patient and arguably could disrupt the continuity of care across the family network. As a tertiary centre, we had the advantage of being able to access a variety of geographical areas and therefore, our aim was to provide convenience and continuity for the patients and their families and the telephone appointment system was initiated.

Benefits of a telephone appointments service:

- Geographics: QS41, statement 5 states that patients should be able to access cascade testing regardless of where they live. This method not only offers the testing regardless of geographical location, but it also negates the need for the patients to travel to a centre that offers the screening. When the telephone clinic was initiated in January 2012, there were much fewer centres across the UK

- Cost – Approximately 84% cheaper than offering a face to face clinic appointment.

- Continuity of care for the family affected with FH: If relatives are not close to our centre, the usual method of referral would be to locate the nearest centre to the patient that offers the cascade screening and refer them there. The telephone genetic screening service enables the entire family to have contact with the same hospital and FH team which has advantages for both the family and the nurse.

- Increased pickup rate of relative screening: As patients are not required to travel for the appointment, attendance is higher. Patients do not need to take time off work or incur costs. They can also attend the appointment in the comfort of their home. This all increases opportunities to diagnose FH CG71.

How did you implement the project

By utilising indirect contact with relatives of confirmed patients by corresponding to them via the index patient. Each relative letter has a referral form for their GP to complete which includes a family file number enabling us to identify which family the referral belongs to. Once the referral is received, we book a telephone appointment and prior to the appointment, a pack containing a buccal swab kit, consent form, and information on FH including pointers to online resources is posted to them directly.

Access to resources – The buccal swab testing kit had to be sourced through discussions with the regional genetics laboratory.

Packaging and transport of specimens was researched and sourced abiding by packaging instructions P1650 and regulations UN3373.

Discussions with the clinical risks department regarding necessary changes to the consent form and patient information sheet that is sent out with the DNA buccal swab.

Alterations made to referral forms ensuring patients were referred for a telephone appointment rather than a clinic appointment.

During the appointment we advise how to complete the buccal swab and give advice on cholesterol management through lifestyle choices such as diet, exercise, alcohol consumption and avoidance of smoking. We check the patient’s understanding of FH including the process of cholesterol metabolism and explain how this may be impaired by FH. We reassure patients that discovering they have FH can help us to try and reduce their risk of Coronary Heart Disease (CHD). The patient returns the swab and consent form in the freepost envelope and we send it to the genetics laboratory for analysis. The patients are informed that we will telephone them with the results in approximately 4 weeks.

As cascade screening can involve multiple members of the same household, telephone appointments are scheduled around school times when screening children, thereby, minimising disruption to the child’s life. Depending on their age, and with parents’ consent, we use speaker phone so that all of the family involved can hear the same information and ask questions. This is dependent on children’s ages and maturity and is entirely the parents’ choice.

Utilising a face to face telephone connection such as skype was explored, however, due to technical issues this is in development.

More recently, emphasis has been placed on the patient being prepared for appointments by including video links to information online including a short video.

Key findings

Yes, the project did meet the aims and objectives.

Benefits for patients

The telephone appointment system provides a convenient and cost-effective method of genetically screening relatives for FH regardless of geographical location. The patients are in the comfort of their own home and now have an opportunity to read information about FH prior to the appointment in addition to being directed to a short video on FH if they have internet access.

Patients’ time off school, college and work is reduced and their exposure to the hospital environment is reduced.

Patients only need to use a buccal swab instead of venepuncture which is useful in cases of needle phobia and in particular with paediatrics.

Benefits for the Clinical Commissioning Group

Significantly reduced appointment cost.

Easier access for patients to access cascade screening.

Increased diagnosis of FH leading to early treatment and prevention.

Patient satisfaction surveys

For each appointment, we send a patient satisfaction survey and have an average return rate of 35%

From February 2013 to the present day 96.8% of patients who returned the survey were happy with the method of the appointment and 3.2% did not respond to that question. Additional comments included:

 ‘Avoided travel to Harefield’

‘Much easier’

‘Saved time off school’

‘Process works well – quick, simple and efficient’

Diagnosis of FH

Prior to the team’s expansion and before the telephone appointment system was initiated in 2011, 25 relatives were screened. However, in 2013, also prior to the team’s expansion but with the telephone appointment system in full operation, 67 relatives were screened. This is a 168% increase in relatives screened following the initiation of the telephone appointment system. It must be recognised, however, that the success of cascade screening also depends on other factors such as relatives’ cooperation, differing family sizes and dispersion of families globally.

Since implementing the telephone appointment for cascade screening in 2012, we have successfully screened 551 relatives, 185 of which have received a confirmed genetic diagnosis and 20 had a variant of unknown significance (VUS).

Key learning points

Traditional face to face appointments are not always necessary.

Consideration of other appointment types can help improve the patients’ experience.

With good planning, this was simple to implement, is effective and is well received by patients.

The telephone appointments were significantly cheaper and more effective as greater numbers of patients are screened.

In addition to telephone appointments, there are other methods of communication which are worth exploring such as video calls and skype.

Contact details

Laura Davis
Clinical Nurse Specialist Familial Hypercholesterolaemia
Royal Brompton and Harefield NHS Foundation Trust

Secondary care
Is the example industry-sponsored in any way?