This document describes a 4-phase project to develop quality indicators for the clinical management of Gaucher disease. In phase 1, existing literature on quality of care for Gaucher disease was reviewed. In phase 2, an expert group proposed initial quality criteria in 3 areas: diagnosis, treatment, and follow-up. In phase 3, these criteria underwent two rounds of evaluation and consensus-building with 31 national Gaucher disease experts. Finally, in phase 4, specific worksheets were created for each indicator according to guidelines for quality assessment in the Spanish public health system. The resulting quality indicator guideline aims to standardize and improve clinical care for Gaucher disease patients.

1. 107. Proposal of a tool for the assessment of the quality
of Gaucher disease clinical management.
*Giner V1
, Fernández MA2
, Villarrubia J3
, Bureo JC4
, Fernández JJ5
, Núñez R6
, Grande M7
, Llorente C7
, Zoni AC8
, Arenas CA9
, Vicente D1
, Sanz J1
.
1
Rare Diseases Unit. Department of General Internal Medicine. Hospital Mare de Déu dels Lliris. Alcoy (Alicante). 2
Department of Hematology. Hospital Virgen del Puerto. Plasencia (Cáceres). 3
Department of
Hematology. Hospital Universitario Ramón y Cajal. Madrid. 4
Department of General Internal Medicine. Hospital Infanta Cristina. Badajoz. 5
Department of General Internal Medicine. Hospital do Meixoeiro. Vigo. 6
Unit of
Hemophilia. Department of Hematology. Hospital Universitario Virgen del Rocío. Sevilla. 7
Department of Preventive Medicine and Quality of Care. Hospital General Universitario Gregorio Marañón. SERMAS. Madrid.
8
Epidemiology Area. Subdirection for Health Promotion and Prevention. Consejería de Salud de la Comunidad de Madrid. Madrid. 9
Sociedad Española de Directivos de Salud (SEDISA). Spain.
*Presenting and corresponding author: giner_vicgal@gva.es
IntroductionIntroduction
MethodologyMethodology
Internal Medicine
Department
Rare Diseases Unit
Alcoi (Alicante). Spain.
To avoid unjustified clinical variation in the way we manage our patients and to assure it is being
done in the best way, it is necessary to have tools to evaluate the quality of our work. It is especially
needed in rare diseases due to the scarce amount of clear and definite evidence available.
To create a tool for the evaluation of the quality of the the assistance given to GD
patients as the first step to improve our clinical practice.
Phase 1
Objective:
Identification and analysis of existing publications about quality in GD management.
Methodology:
Review of the published evidence in Medline (PubMed)©
, Embase©
and Cochrane©
databases according to PRISMA (Preferred Reporting Items for
Systematic Reviews and Meta-Analyses) methodology until october 2013.
Phase 2
Objective:
First proposal of quality criteria for 3 clinical scenarios: Diagnosis, Treatment and Follow-up.
Methodology:
Creation of an expert group with seven national experts on GD.
Initial proposal for quality criteria after evaluation and adaptation to spanish clinical practice.
As illustrated in Figure 1, the project was developed in four consecutive phases between 2013 and 2016:
Phase 3
Objective:
General consensus for the election of significant quality indicators.
Methodology:
Identification of national physicians with expertise in the management of GD.
Consensuated evaluation of proposed quality criteria by 31 national treating GD
patients in two Delphi rounds. In each round the panelists evaluated each proposal
applying a 9 points Likert scale.
Phase 4
Objective:
Final manuscript for clinical application.
Methodology:
Creation of a worksheet for each quality indicator according to Sociedad Española de Calidad
Asistencial (SECA) (Spanish Society of Assitential Quality) 2012 protocol for the Spanish Public
Health System hospitals.
ResultsResults
Phase 1 Phase 2 Phase 3 Phase 4
ScenarioScenario Quality parameterQuality parameter CalculationCalculation ObjectiveObjective
Diagnosis (D)
D1. Anamnesis and physical exploration GD patients with D1/All GD patients x 100 100%
D2. Basic general analytical study GD patients with D2/All GD patients x 100 100%
D3. Glucocerebrosidase activity GD patients with D3/All GD patients x 100 100%
D4. Genetic study GD patients with D4/All GD patients x 100 100%
D5. Biomarkers GD patients with D5/All GD patients x 100 100%
D6. Bone disease evaluation GD patients with D6/All GD patients x 100 100%
D7. Organomegaly evaluation GD patients with D7/All GD patients x 100 100%
D8. Global severity evaluation GD patients with D8/All GD patients x 100 100%
D9. Exhaustive familial story GD patients with D9/All GD patients x 100 100%
D10. Familial screening GD patients with D10/All GD patients x 100 100%
Treatment (T)ERT: Enzyme replacement Therapy
SRT: Substracte reduction Therapy
T1. Specific treatment: ERT GD patients with T1/All GD patients x 100
T1.1 and T1.2 100%,
T1.3 50%, T1.4 0%
T2. Specific treatment: SRT GD patients with T2/All GD patients x 100 100%
T3. Therap. objective: Anemia GD patients with T3/All GD patients x 100 100%
T4. Therap. objective: Thrombopenia GD patients with T4/All GD patients x 100 T4.1, T4.2, T4.3, T4.4, T4.5 100%
T5. Therap. objective: Hepatomegaly GD patients with T5/All GD patients x 100 T5.1 ≥20 %, T5.2 ≥30 %.
T6. Therap. objective: Splenomegaly GD patients with T6/All GD patients x 100 T6.1 ≥30 %, T6.2 ≥60 %.
T7. Therap. objective: Bone GD patients with T7/All GD patients x 100 T7.1 ≥20%, T7.2 ≥50%, T7.3 ≥30%.
Follow-up (F)
F1. Continuos and planned follow-up GD patients with T7/All GD patients x 100 F1.1, F1.2, F1.3 100%
F2. No reached objectives GD patients with T7/All GD patients x 100 100%
ConclusionsConclusions
Figure 1. Methodological
phases in the confection
of the final document
entitled “Guía práctica de
indicadores de calidad
asistencial en la
enfermedad de Gaucher”
(“Practical guideline
of assistential
quality indicators in
Gaucher disease”).
This project has been supported
by Shire Pharmaceuticals Iberica©
ObjectiveObjective
Although the process of quality is essential to improve
health care, the presented is the only reported specific
tool to assess quality of actual GD clinical management.
Because of very scarce bibliographic evidence and
high level of consensuated decisions, probably a
specific document for each Health system is necessary.
The simplicity of the proposed system could facilitate its
application as a way to improve and standardize
clinical management of GD patients as a continuous
improvement process.
Communicated as a poster