Standards of care for CFTR variant-specific therapy (including modulators) for people with cystic fibrosis.

Cystic fibrosis (CF) has entered the era of variant-specific therapy, tailored to the genetic variants in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. CFTR modulators, the first variant-specific therapy available, have transformed the management of CF. The latest standards of care from the European CF Society (2018) did not include guidance on variant-specific therapy, as CFTR modulators were becoming established as a novel therapy. We have produced interim standards to guide healthcare professionals in the provision of variant-specific therapy for people with CF. Here we provide evidence-based guidance covering the spectrum of care, established using evidence from systematic reviews and expert opinion. Statements were reviewed by key stakeholders using Delphi methodology, with agreement (≥80%) achieved for all statements after one round of consultation. Issues around accessibility are discussed and there is clear consensus that all eligible people with CF should have access to variant-specific therapy.

ECFS best practice guidelines: the 2018 revision.

Developments in managing CF continue to drive dramatic improvements in survival. As newborn screening rolls-out across Europe, CF centres are increasingly caring for cohorts of patients who have minimal lung disease on diagnosis. With the introduction of mutation-specific therapies and the prospect of truly personalised medicine, patients have the potential to enjoy good quality of life in adulthood with ever-increasing life expectancy. The landmark Standards of Care published in 2005 set out what high quality CF care is and how it can be delivered throughout Europe. This underwent a fundamental re-write in 2014, resulting in three documents; center framework, quality management and best practice guidelines. This document is a revision of the latter, updating standards for best practice in key aspects of CF care, in the context of a fast-moving and dynamic field. In continuing to give a broad overview of the standards expected for newborn screening, diagnosis, preventative treatment of lung disease, nutrition, complications, transplant/end of life care and psychological support, this consensus on best practice is expected to prove useful to clinical teams both in countries where CF care is developing and those with established CF centres. The document is an ECFS product and endorsed by the CF Network in ERN LUNG and CF Europe.

Liminality and transfer to adult services: a qualitative investigation involving young people with cystic fibrosis.

BACKGROUND: Moving to adult care can be challenging for adolescents with a long-term condition; if not managed well it may result in non-adherence, failure to attend appointments and a decline in health post-transfer. Life expectancy for those with cystic fibrosis has improved considerably in recent decades. This patient group was selected as an exemplar for thinking about the movement of care from paediatric to adult services. OBJECTIVES: To explore young people's experience of transferring. DESIGN: A qualitative descriptive methodology, involving semi-structured interviews. SETTING: One adult cystic fibrosis unit in the United Kingdom. PARTICIPANTS: 19 patients (12=male) who had moved to the study site no more than 12 months prior to data collection, which took place between October 2010 and February 2011. METHODS: Interviews were conducted face-to-face, by telephone or email. Framework analysis was applied to interview transcripts. RESULTS: Data suggested transfer was a period of flux, during which participants progressed from a service that was relatively prescriptive to one that called for autonomy. They appeared to go through three stages during this process: fracturing, acclimatising and integrating. The concept of liminality was used as a lens to explore data. Liminality describes those on the threshold of a new social position and rituals that bring meaning to such change. Rites of passage, such as being visited by a member of the adult team and a first appointment within this new healthcare setting, were important because they allowed for initiation into the workings of the adult unit. However, the absence of certain rituals, including a ceremony marking departure from paediatrics, might hinder progression towards becoming an adult patient. CONCLUSIONS: The concept of liminality proved useful for thinking about data. Additional work should explore whether it can be applied to different long-term conditions and if initiation rituals vary across services. Nurses could play a role in preparing adolescents by assessing their readiness to transfer on a regular basis and intervening to address individual needs. This would help with young people's shift from a paediatric to adult identity, hopefully preventing them from experiencing a prolonged liminal state post-transfer.