Omics technologies enable the measurements of genes (genomics), mRNA (transcriptomics), proteins (proteomics) and metabolites (metabolomics) and thus proved to be valuable tools for personalized decision-making in clinical practice. For their evaluation, a health technology assessment (HTA) framework is not standardized and accepted, yet. Therefore, we aim at designing an omics-technologies HTA evaluation framework to facilitate their assessment, through a mixed-method approach. This work is part of the ExACT project, which aims to produce a range of tools to facilitate the implementation of precision health in clinical practice.

A systematic review was conducted to identify the existing HTA frameworks used for the evaluation of omics-technologies. Desk research on the HTA agencies’ websites was performed to identify the reports on omics-technologies HTA evaluation frameworks used by these agencies. A questionnaire evaluating HTA agencies’ experience on evaluation of omics-technologies was designed. The new framework will be elaborated based on the findings from the three methodological steps, and will be validated through a Delphi process.

Twenty-three articles were included in the systematic review. The main identified HTA frameworks were ACCE and “Evaluation of Genomic Applications in Practice and Prevention” (EGAPP). The desk research showed that these frameworks were seldom used by HTA agencies, which for the evaluation of omics-technologies mostly refer to the HTA Core Model®, mainly assessing the following domains: clinical effectiveness and economic evaluation. Data collection process of the questionnaire HTA agencies’ experience is in progress.

Although two main HTA frameworks for the evaluation of omics-technologies have been identified, these frameworks are sporadically used by HTA agencies in their practice. The particular interest of HTA agencies on clinical effectiveness and economic evaluation, might potentially reflect the uncertainty and difficulties when evaluating omics-technologies. This could indicate that these HTA frameworks are not feasible and practical to be used in routine HTA agency processes for omics technologies, emphasizing the need for a new framework. Our methodological approach might contribute to the development of a new HTA framework, feasible and practical to use not only for HTA agencies.

Understanding of the role of contextual factors in determining the real value of health technologies is one of the major challenges for the use of Health Technology Assessment (HTA) methodology within hospitals. Moreover, the responsibility of assessing hospital performance is problematic. Although a number of managerial tools are available to appraise outcomes, there is little evidence on the role of contextual variables and how they might contribute to hospital performance.

Based on three extensive literature reviews, a pragmatic framework has been developed to understand interactions between organizational factors and health technologies on hospitals’ performance. Three main causal relationships emerge: (i) direct relationship between contextual factors and performance; (ii) an effect of contextual factors on the capability of technologies to “produce value”; (iii) an influence of organizational factors on clinical evidence-based decision-making. This pragmatic framework was designed within the IMPACT HTA EU Horizon 2020 Research Project.

The contextual dimensions are ascribable to five domains: organizational structure; managerial accounting tools; information, communication and technology (ICT) tools; human resource management (HRM) tools; hospital-based HTA procedures. The impact of contextual factors on technologies’ ability to produce value is highly overlooked in literature. Some effort in this sense exists only in the analysis of health information technologies. Moreover, among the contextual dimensions, only HRM tools have inspired a lively debate. The definition of hospital performance is amenable to multiple domains: accessibility, appropriateness, efficiency, safety and patient centeredness (continuity of care).

Although hospital performance is a pivotal topic in the healthcare sector, a deep understanding of how contextual factors may affect it is missing. The theoretical framework developed provides a tool to understand the multiple dimensions able to affect hospital performance. On one hand contextual dimensions may provide a direct effect on hospital performance. On the other, they may affect the extent to which technologies are capable of producing value.

Iron Deficiency Anemia (IDA), a common cause of anemia in the world, is a frequently neglected disease that represents the main extraintestinal manifestation affecting patients with inflammatory bowel disease (IBD) (1). The release of new intravenous (IV) iron compounds represents a great opportunity for both physicians and patients, but the higher costs might hold back their optimal diffusion. A Health Technology Assessment (HTA) approach was used to provide insights on the sustainability of the IV iron formulations in a hospital setting, with a special focus on ferric carboxymaltose.

Epidemiology of IBD, as well as IDA associated with these conditions, was assessed with a systematic appraisal of the published literature. Data on efficacy and safety of IV iron formulations currently used in Italy were retrieved from the available medical electronic databases. A hospital based cost-analysis of the outpatient delivery of IV iron treatments was performed. Organizational and ethical implications were discussed.

The reported prevalence of anemia in patients with IBD varies markedly from 10 to 73 percent for Crohn's Disease and from 9 to 67 percent for Ulcerative Colitis. Although there are no studies on direct comparison of different IV iron preparations, the literature indicates good efficacy and safety profiles of these formulations. However, ferric carboxymaltose seemed to provide a better and faster correction of hemoglobin and serum ferritin levels in iron-deficient patients (2,3). Our analyses indicated that ferric carboxymaltose, in spite of a greater price, would have positive benefits for the hospital, in terms of reduced costs related to individual patient management, and for the patients themselves, by reducing the number of infusions and accesses to health facilities.

This hospital-based HTA reports an overall positive organizational, economic and ethical evaluation for the sustainable introduction of ferric carboxymaltose in the Italian outpatient setting.

Cystic Fibrosis (CF) is a genetic disorder caused by mutations in CFTR gene. In Italy, reported prevalence is approximately .70 per 10,000 inhabitants (1). The practice and recommendations for Cystic Fibrosis carrier screening are very heterogeneous in Europe. A proposal of a carrier genetic test in the general population raises many questions. Health Technology Assessment (HTA) could offer a sound methodological basis for this evaluation. The aim of this work was to summarize the available evidence, using the HTA approach, on the genetic tests for Cystic Fibrosis carrier screening.

A systematic literature search was used to find the best available international and national evidence on genetics test for CF carrier screening. In this report, we specifically addressed the health problem of disease, description and technical characteristics of tests – its analytic and clinical validity, and clinical utility. Economic evaluation of different scenarios was synthesized from the literature. Ethical, organizational, and social aspects of CF and genetic screening were also considered.

Several screening strategies have been evaluated in the literature and screening options can be characterized by different timing, model and place of screening (2). The reported cost of a screening test ranged from EUR25 to EUR212 (3). Estimated life time cost of care for CF patients ranged from EUR291,048 to EUR1,105,452. Ethical analysis emphasized that the use of these tests is an advantage in terms of the acquisition of knowledge and of responsible management of choices, but at the same time raises many ethical questions. Social considerations reported among patients and their families an overall positive attitude toward population CF carrier screening.

The advances in the molecular genetics technology have made CF carrier testing reliable and affordable. The multidisciplinary approach of this HTA provided an evidence-based evaluation of genetic tests and offers a firm scientific background for the decision-makers to consider the implementation of a screening for Cystic Fibrosis carriers into the Italian health care system.

To investigate an outbreak of Candida parapsilosis bloodstream infections (BSIs) involving three patients admitted to a pediatric oncology unit between April and June 2002.

After the third case was documented, cultures were performed of the hands of all medical and paramedical staff members in the pediatric oncology unit and of environmental surfaces in the rooms occupied by the three patients. Electrophoretic karyotyping with pulsed-field gel electrophoresis and arbitrarily primed polymerase chain reaction were used to assess the genetic relatedness among C. parapsilosis isolates.

The three cases of C. parapsilosis BSI were diagnosed based on blood cultures performed during a 38-day period. Evidence of prior C. parapsilosis colonization of the gastrointestinal tract was present in only the first case. Each patient had an indwelling central venous catheter (CVC), which was promptly removed, and semiquantitative catheter tip cultures also revealed C. parapsilosis. None of the 30 environmental cultures performed was positive for C. parapsilosis, but the fungus was isolated from the hands of 6 of the 20 nurses tested. Both molecular typing methods revealed identical DNA fingerprinting patterns for all 13 patient isolates (7 from blood, 3 from CVC tips, and 3 from the gastrointestinal tract) and for 5 of the 6 recovered from the nurses' hands.

These findings suggest the possibility of cross-infection with a single C. parapsilosis strain that was transmitted (probably during CVC dressing changes) by nurses whose hands were colonized with it. The role of previous gastrointestinal colonization in the first case cannot be excluded.