Social/economic costs and health-related quality of life in patients with juvenile idiopathic arthritis in Europe.

OBJECTIVE: The aim of this study was to determine the economic burden from a societal perspective and the health-related quality of life (HRQOL) of patients with juvenile idiopathic arthritis (JIA) in Europe. METHODS: We conducted a cross-sectional study of patients with JIA from Germany, Italy, Spain, France, the United Kingdom, Bulgaria, and Sweden. Data on demographic characteristics, healthcare resource utilization, informal care, labor productivity losses, and HRQOL were collected from the questionnaires completed by patients or their caregivers. HRQOL was measured with the EuroQol 5-domain (EQ-5D-5L) questionnaire. RESULTS: A total of 162 patients (67 Germany, 34 Sweden, 33 Italy, 23 United Kingdom, 4 France, and 1 Bulgaria) completed the questionnaire. Excluding Bulgarian results, due to small sample size, country-specific annual health care costs ranged from €18,913 to €36,396 (reference year: 2012). Estimated direct healthcare costs ranged from €11,068 to €22,138; direct non-healthcare costs ranged from €7837 to €14,155 and labor productivity losses ranged from €0 to €8715. Costs are also shown to differ between children and adults. The mean EQ-5D index score for JIA patients was estimated at between 0.44 and 0.88, and the mean EQ-5D visual analogue scale score was estimated at between 62 and 79. CONCLUSIONS: JIA patients incur considerable societal costs and experience substantial deterioration in HRQOL in some countries. Compared with previous studies, our results show a remarkable increase in annual healthcare costs for JIA patients. Reasons for the increase are the inclusion of non-professional caregiver costs, a wider use of biologics, and longer hospital stays.

The Italian National External quality assessment program in molecular genetic testing: results of the VII round (2010-2011).

Since 2001 the Istituto Superiore di Sanità established a quality assurance programme for molecular genetic testing that covers four pathologies: Cystic Fibrosis (CF), Beta Thalassemia (BT), Fragile X Syndrome (FX), and Familial Adenomatous Polyposis Coli (APC). Since 2009 this activity is an institutional activity and participation is open to both public and private laboratories. Seven rounds have been performed until now and the eighth is in progress. Laboratories receive 4 DNA samples with mock clinical indications. They analyze the samples using their routine procedures. A panel of assessors review the raw data and the reports; all data are managed through a web utility. In 2010 the number of participants was 43, 17, 15, 5 for CF, BT, FX, APC schemes respectively. Genotyping results were correct in 96%, 98.5%, 100%, and 100% of CF, BT, FX, and APC samples, respectively. Interpretation was correct in 74%, 91%, 88%, and 60% of CF, BT, FX, and APC reports, respectively; however in most of them it was not complete but a referral to genetic counseling was given. Reports were satisfactory in more than 60% of samples in all schemes. This work presents the 2010 results in detail comparing our data with those from other European schemes.

The Italian external quality assessment scheme in classical cytogenetics: four years of activity.

BACKGROUND: The Italian external quality assessment scheme in classical cytogenetics was started in 2001 as an activity funded by the National Health System and coordinated by the Italian Public Institute of Health. OBJECTIVES: The aim of our work is to present data from the first 4 years of activity, 2001-2004. METHODS: Italian cytogenetics public laboratories were enrolled on a voluntary basis, and this nationwide program covered prenatal, postnatal and oncological diagnosis. The scheme is annual and retrospective; a panel of experts reviewed the quality of images and reports in order to assess technical, analytical and interpretative performance. RESULTS: Over the 4-year period, the number of participating laboratories increased: from 36 in 2001, 46 in 2002, 49 in 2003 to 51 in 2004. The overall technical performance was satisfactory. Inadequacy or lack of information in reporting was the most frequent analytical inaccuracy identified in all parts of the scheme. However, the percentage of complete reports increased significantly during the period: by 36% in postnatal diagnosis between 2001 and 2004 (p < 0.001) and by 42% in oncological diagnosis between 2002 and 2004 (p = 0.003). CONCLUSIONS: Our experience reveals that participation in external quality assessment programs has significant advantages, helping to standardize and to assure quality in cytogenetic testing.

Access to and quality of health and social care for rare diseases: patients' and caregivers' experiences.

People suffering from rare diseases, independently of the condition, often experience the same problems in receiving adequate health and social care. It is not clear how these problems differ in severity among different diseases and in different countries and how they change in time. In the framework of the NEPHIRD (Network of Public Health Institutions on Rare Diseases), a European project, funded by DG-SANCO (EU Commission), an effort was made to develop a simple but comprehensive tool to show patients' and/or caregivers' opinions about the quality and accessibility of health and social services. The self-filled questionnaire asks how often patients or caregivers had both negative and positive experiences about the quality and accessibility of health and social services and their opinion on their improvement, on 5-level scales. A pilot survey was carried out in several European Countries among members of Myasthenia Gravis, Neurofibromatosis, Prader Willi and Rett Syndrome volunteers' associations. Descriptive and comparative analyses were performed using Stata and Epi Info 2000. In total, 302 questionnaires were completed in France, Italy, Romania, Spain, Turkey and United Kingdom during 2004-05. In general, respondents thought that health care accessibility was worse than quality, and that social care and legal provisions were worse than health care, with some differences among countries. For all diseases, and for both patients and caregivers, the most frequent reported positive experiences were health professionals' kindness and readiness to help (all medians ranged from 3 to 5). As for the efforts for improvement made by public services in the last three years, the opinions were generally favourable. This study has several limitations. However the assessment tool that has been developed has some innovative and interesting features and may be considered a useful attempt to compare patients' and caregivers' experiences for a range of different diseases, countries and services, with respect to a rare disease programme.

[Accessibility and quality of Italian health and social services: the experiences of patients with neurofibromatosis type 1 and of their relatives]. / Accessibilità e qualità dei servizi socio-sanitari italiani: le esperienze dei pazienti con neurofibromatosi tipo 1 e dei loro familiari.

Opinions of patients and relatives about their experiences with health and social services were assessed in a pilot study. The study was carried out in collaboration with two patients' Associations of Neurofibromatosis, "Neurofibromatosi--Onlus" and "LINFA--Onlus". An ad-hoc questionnaire was developed by the Italian National Centre of Rare Diseases and was sent to the Responsibles of the two aforementioned patients' Associations. The Responsibles distributed the questionnaire to their members by mail. The questionnaire investigated, using 5-level Likert scales, the following topics: quality and accessibility of health services (diagnostic exams, pharmacological therapies, rehabilitation, psychological support), quality and accessibility of social services (school, vocational training, health information, information on legal matters and rights). Finally, the questionnaire investigated also opinions about improvements of public health and social services in the last three years. Overall, 79 out 144 questionnaires were filled by patients or their relatives. The most frequent negative experiences concerned vocational training and both health and legal information. The most frequent positive opinions were reported for the human relationships with health professionals. This pilot study seems to point out a promising way to investigate systematically opinions of patients suffering from rare diseases and their relatives.

[Accessibility and quality to health social services in Italy for the patients with rare diseases: the opinion of associations]. / Accessibilità e qualita dei servizi socio-sanitari italiani per i pazienti con malattie rare: il parere delle associazioni.

This paper concerns the first phase of a study about the perception of social and health needs of people with rare diseases. The study was performed by the National Center for Rare Diseases at the Italian National Institute of Health (Istituto Superiore di Sanità - ISS). The project wants to be an example of collaboration between the research and the association worlds. Responsible of Associations of Patients and their relatives were asked their opinion about the accessibility and quality of important features of health and social services (accessibility and quality of diagnostic, pharmacological, psychological and rehabilitative interventions, social support, school and vocational training, information that was given to relatives). An ad hoc questionnaire was developed through focus groups. The questionnaire was completed by 108 associations (26,5% of the associations thar are recorded in the ISS database). Average scores showed satisfaction only for some variables and a negative gradient north-south was observed. The most frequent complaints were about information, quality of school and job training services and availability of psychological support. The study showed an high level of dissatisfaction with availability, quality and integration health and social services.