The Italian External Quality Assessment Program for Cystic Fibrosis Sweat Chloride Test: Does Active Participation Improve the Quality?

Marco Salvatore,Carlo Corbetta,Annalisa Amato,Giovanna Floridia,Gianluca Ferrari,Rita Padoan,Ettore Capoluongo,Domenica Taruscio,Valeria Raia,Federica Censi,Giuseppe Castaldo,Fabrizio Tosto,Ubaldo Caruso,Natalia Cirilli

doi:10.3390/ijerph17093196

Abstract

(1) Background: Diagnostic testing for cystic fibrosis (CF) is based on a sweat chloride test (SCT) considering the appropriate signs and symptoms of the disease and results of a gene mutation analysis. In 2014, the Istituto Superiore di Sanità (ISS) established a pilot Italian external quality assessment program for CF SCT (Italian EQA-SCT), which is now a third party service carried out by the ISS. (2) Methods: The ongoing scheme is prospective, enrollment is voluntary, and the payment of a fee is required. Results are shared through a dedicated web-facility. Assessment covers the analysis, interpretation, and reporting of results. (3) Results: Thirteen, fifteen, sixteen, and fifteen different laboratories, respectively, participated from 2015 to 2016 and from 2018 to 2019 in the Italian EQA-SCT scheme. Eleven different laboratories participated each year in all four rounds of the Italian EQA-SCT. (4) Conclusions: The overall results obtained from the laboratories participating constantly clearly show that their qualitative and quantitative performance improved significantly. This is due to the opportunity—after receiving the EQA results—to constantly review their performance and address any inconsistencies. We firmly believe that participation in the EQA program will improve the quality of participating laboratories and that EQA participation should become mandatory as a fundamental requirement for laboratory accreditation.

Highlights

Cystic fibrosis (CF, OMIM 219700) is the most common life-threatening autosomal-recessive disease affecting Caucasians in the western world
The aim of this study is to focus on the results of eleven different laboratories belonging to the Italian Referral Care Centers for Cystic Fibrosis network, which participated continuously in four rounds of the Italian EQA-sweat chloride test (SCT)
Three laboratories participated in one External Quality Assessment program for SCTs (EQA-SCT) round (b, d, and s); three laboratories participated for two rounds (p, q, and r); and two laboratories participated for three rounds (Figure 3)

Summary

Introduction

Cystic fibrosis (CF, OMIM 219700) is the most common life-threatening autosomal-recessive disease affecting Caucasians in the western world. The highest prevalence is found in the western populations of Europe, North America, and Australia, with the disease occurring among approximately 1 in 2500 to 3500 live births or even less (e.g., Scandinavia has estimated CF incidence of 1 in 4900 live births). Treatment advances have led to improved patient outcomes. A child born with CF in the United Kingdom (UK) may live up to more than 50 years of age, but the median age of death remains 31 [1,2,3]. The median age at death in Italy is 37.2 years, according to 2016 data from the Italian Registry for Cystic Fibrosis [4]. More than 2000 genetic variants have been identified in the gene that codes for the protein cystic fibrosis transmembrane conductance regulator (CFTR); only 352 out of 432 variants included in CFTR2 are disease causing (https://cftr2.org/mutations_history)

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