The Familial Arrhythmia Network of Scotland

In this feature interview, we speak with Dr. Anna Maria Choy, FRCPE, FACC, about her involvement with the Familial Arrhythmia Network of Scotland (FANS). Tell us about the Familial Arrhythmia Network of Scotland. When was it formed, and why? The Familial Arrhythmia Network of Scotland is a nationally managed network for the familial arrhythmias, encompassing inherited cardiac diseases that primarily have a cardiac presentation manifested by life-threatening arrhythmia. The formation of FANS was driven by the recognition of cardiologists and geneticists in Scotland that the management of individuals at risk of sudden arrhythmia death (SAD) and their families is challenging, requiring coordinated strategies and input from many healthcare professionals. In many instances, information regarding referral pathways, specialists, and availability of genetic testing is ill defined nor readily accessible. The absence of guidelines and consensus for the diagnosis, risk stratification and treatment of these conditions, has lead to disparities in care. There was an unmet need for improved coordination of multidisciplinary services in order to deliver an equitable, evidenced-based and resource-efficient service in keeping with the goals defined by the National Service Framework (Chapter 8, March 2005; https://www.dh. gov.uk/en/Healthcare/Longtermconditions/Vascular/Coronaryheartdisease/DH_4117048) and supported by various interested patient groups in the UK such as the Arrhythmia Alliance (www.heartrhythmcharity.org.uk), the Cardiomyopathy Association (www.cardiomyopathy.org), Cardiac Risk in the Young (www.c-r-y.org.uk), and SADS UK (www.sadsuk.org). FANS was proposed and discussed in April 2006 at a joint meeting of specialist geneticists and cardiologists from across Scotland, chaired by myself. There was universal agreement that provision of a network of support and collaboration across health board boundaries would allow for more equitable and efficient service. In April 2008, FANS was funded by the NHS National Services Division as a national managed clinical network (MCN). FANS aims to address these issues by developing care and management pathways for the diagnosis, treatment, and risk assessment of the familial conditions associated with arrhythmic SAD, and to administer a database for follow-up of affected individuals so that as knowledge of these conditions increases, new recommendations and guidelines can be translated into clinical practice effectively. The service will be web-based, providing: • A link to a secure database (accessible to all the participating specialists), limited access to referring clinicians, held on the NHS intranet • Information for the public • Information for healthcare professionals • Network information regarding regional specialists • Referral criteria to FANS clinics • Protocols for clinical and genetic testing • Links to patient support groups. Who is involved with FANS? Approximately how many members are there currently? FANS comprises of an executive group (cardiologists and clinical geneticists) working with a multidisciplinary steering group (SG) made up of key stakeholders and healthcare professionals (i.e., cardiologists, primary care physicians, cardiac geneticists, cardiac pediatricians and neurologists, forensic pathologists, genetic counselors and specialist nurses) and representation from patient groups. Many of the steering group members lead subgroups representing their speciality group, and their role is primarily to liaise with the SG of FANS and their subspecialty. There are 8 in the executive group, with 16 in the SG. What are some of the services provided to FANS Network members? The services provided include: • Agreed protocols for clinical and genetic testing for these conditions • Direct access to specialists for clinical support and advice • Provision of genetic counselor service in all regions • Coordination of genetic testing services in Scotland • Forum for discussion and updates in advances and research in these clinical areas • Representation to government bodies and policy makers in the Scottish healthcare service and government • Current and potential links for teaching and research. How many people in Scotland are affected by heart arrhythmias? What do you consider the more common heart arrhythmia(s) experienced by patients there? The actual incidence and prevalence is unknown, but it is estimated from studies in England and Wales to be around 70 deaths in Scotland a year due to a primary arrhythmia. Most recent studies report a death rate of 1.34 per 100,000 or 500 deaths a year in England (Heart 2007;93:601-605); however, this does not included survivors of SADs, or close family members also at risk and who require risk assessment and management. According to genetic testing data from the Scottish Molecular Genetic Consortium, long QT syndrome appears to be the most prevalent familial arrhythmia. One of the remits of FANS is to collect this important data. Describe the FANS database for follow up of patients and their families. Has this been put in place or are there plans to? At present there is no FANS database available to all members. A regional database is being used in Grampian based at Aberdeen Royal Infirmary, and there are plans to develop and extend this to the rest of the health boards in Scotland. The need for a registry is recognized and supported by the National Services Division of the Scottish Government. Implementing this network nationally will be the next significant challenge for FANS. Tell us about the upcoming Arrhythmia Symposium 2010. In addition, what other conferences does FANS participate in or host each year? This is the second annual Scottish arrhythmia symposium to be held in Dundee, providing expert insights on a wide area of arrhythmia topics for healthcare professionals with an interest in the management of patients with arrhythmias. The objective of these annual symposia is to increase awareness of arrhythmia and research advances to all healthcare professionals. The theme this year is ‘New Perspectives in Cardiac Arrhythmia Management,’ focusing on recent developments in pharmacotherapy, electrophysiologic intervention and devices, and their application to clinical management in 2010 and beyond. In addition to known leaders in arrhythmia and electrophysiology in Scotland, this year’s speakers also include eminent international experts, Professor Paul Dorian (University Toronto), Professor John Camm and Dr. Elijah Behr from University London. Sudden arrhythmic death in young people due to inherited cardiac conditions is universally recognized as an important area, yet prevention in this area remains a challenge. A session of the meeting will focus on this important area, and the contributions from specialists in genetics, forensic pathology, cardiology, nursing, primary care and importantly, a patient’s own experience, will offer a unique opportunity to explore and discuss practices and strategies that could prevent these tragic events. To date, 96 delegates have pre-registered. FANS will also be featured at the annual spring meeting of the Scottish Cardiac Society to be held in Dunkeld, in April 2010. In 2009, at the Heart Rhythm UK conference in Birmingham in October, FANS was profiled when Dr. Anna Maria Choy, lead clinician for FANS, was awarded an Achievement Award in recognition for her work in establishing FANS. What are some of the ways in which the Familial Arrhythmia Network helps benefit patients? What information can patients find about their condition on your website? Some of the benefits include facilitated referral to arrhythmia specialists in suspected high-risk individuals, a timely and streamlined diagnosis, treatment, and genetic counseling, and more SADs prevented through screening of family members. In patients where the diagnosis remains ambiguous because the disease may be at the early stage but may manifest later, or the mutation remains undetermined, registry follow-up of these individuals will allow continued surveillance for risk. Knowledge of test results in family members investigated elsewhere in, but available through the registry network to the specialists, will avoid unnecessary testing and facilitate the diagnosis in extended family members. Other benefits include improved clinical and genetic diagnosis, as well as cost-effective genetic testing, through harmonization of diagnostic protocols based on recommended guidelines/ current literature. In addition, streamlined genetic analysis, collection of DNA and relevant clinical data and tracking of samples is available. Another benefit is the shortened patient journeys facilitated by direct patient referral to specialty centers from primary, secondary and tertiary centers. Patients can also find increased awareness and education via our network’s website, study days, our annual national meeting and other communication means. What patient story that you have come across has affected you the most? I find Audrey McColl’s story particularly moving; it powerfully conveyed the anxieties and concerns of being a patient as well as a mother to 2 young children with long QT syndrome. (See “https://www.fans.scot. nhs.uk/patstories_audrey.html” for more information on her story.) What are FANS's goals for the future? Our goals include: • Establishment of a national Scottish registry of familial arrhythmias • Review of outcomes of risk stratification paradigms and efficacy of testing paradigms • Development of clinical standards and application for accreditation of Quality Assurance Framework of the network from NHS Quality Improvement Scotland (https:// www.nhshealthquality.org/nhsqis/ CCC_FirstPage.jsp ) • Extension of the registry to include rare genetic diseases associated with arrhythmias and SAD • Ongoing research: as these are relatively newly understood disease entities, there is much ongoing clinical and genetic research. The network will allow rapid translation of recommendations and scientific findings into clinical practice, including implementing new diagnostic techniques and gene-specific therapies. Is there anything else you’d like to add? It is envisaged that the FANS model, including referral criteria and guidelines, clinical and genetic testing protocols, and use of a web-based approach, can be adapted and used in other areas. The success of FANS in engaging with all relevant healthcare professionals across health boards in Scotland has led to similar initiatives for other inherited cardiac conditions such as the inherited cardiomyopathies. The many shared interests of FANS with the other inherited cardiac conditions is leading the development of care pathways for these conditions, particularly those with an arrhythmic component where patient numbers are small and there is no network support. With the establishment of a fully functional network for the primary electrical diseases, it is envisaged that the network could also undertake other inherited diseases associated with SAD. For more information, please visit: https://www.fans.scot.nhs.uk/