3D-Arterial analysis software and CEUS in the assessment of severity and vulnerability of carotid atherosclerotic plaque: a comparison with CTA and histopathology.

PURPOSE: Our purpose is to assess Multiparametric Ultrasound (MPUS) efficacy for evaluation of carotid plaque vulnerability and carotid stenosis degree in comparison with Computed Tomography angiography (CTA) and histology. MATERIAL AND METHODS: 3D-Arterial Analysis is a 3D ultrasound software that automatically provides the degree of carotid stenosis and a colorimetric map of carotid plaque vulnerability. We enrolled 106 patients who were candidates for carotid endarterectomy. Prior to undergoing surgery, all carotid artery plaques were evaluated with Color-Doppler-US (CDUS), Contrast-Enhanced Ultrasound (CEUS), and 3D Arterial analysis (3DAA) US along with Computerized Tomographic Angiography (CTA) to assess the carotid artery stenosis degree. Post-surgery, the carotid specimens were fixed with 10% neutral buffered formalin solution, embedded in paraffin and used for light microscopic examination to assess plaque vulnerability morphological features. RESULTS: The results of the CTA examinations revealed 91 patients with severe carotid stenoses with a resultant diagnostic accuracy of 82.3% for CDUS, 94.5% for CEUS, 98.4% for 3DAA, respectively. The histopathological examination showed 71 vulnerable plaques with diagnostic accuracy values of 85.8% for CDUS, 93.4% for CEUS, 90.3% for 3DAA, 92% for CTA, respectively. CONCLUSIONS: The combination of CEUS and 3D Arterial Analysis may provide a powerful new clinical tool to identify and stratify "at-risk" patients with atherosclerotic carotid artery disease, identifying vulnerable plaques. These applications may also help in the postoperative assessment of treatment options to manage cardiovascular risks.

Managing the introduction of genomic applications into the National Health Service: A special challenge for health technology assessment in Italy.

In recent years, the rapid proliferation of genomic tests for use in clinical practice has prompted healthcare systems to use a health technology assessment (HTA) approach to distinguish valuable from unwarranted applications. In this study, we narratively review the Italian HTA mechanisms for medical devices (MDs), both at the national and regional levels, and discuss the opportunity and benefits of extending them to genomic technologies, for which a dedicated assessment path was advocated by the National Plan for Public Health Genomics in 2017. We found that the National Health Technology Assessment Program for MDs, completed in 2019, had developed a structured pathway for the HTA of MDs; it established a hub-and-spoke structure, run by a governmental institution, and put in place transparent methodological procedures to cover all four HTA phases (i.e., proposal and prioritization, assessment, appraisal, and dissemination). However, several factors have hindered its adoption, and the regions are at different stages of its implementation. For these reasons, efforts should be made to ensure its effective deployment, both at national and regional levels. In addition, we argue that to harmonize the institutional roles and methodological procedures adopted, the time has come to concentrate resources on a single pathway for the assessment of all technologies that include both MDs and genomic applications.

Prevalence, management, and outcome of cryptorchidism associated with gastroschisis: A systematic review and meta-analysis.

PURPOSE: Cryptorchidism associated with gastroschisis has been poorly investigated. We aimed to assess the prevalence of this association, and to address the management and outcome of cryptorchidism in this context. MATERIALS AND METHODS: In this systematic review, we searched electronic databases (PubMed, Web of Science, and Google Scholar), without language restrictions from inception to March 31, 2021, for studies on cryptorchidism and gastroschisis co-occurrence. Random effects meta-analysis was used to calculate pooled prevalence estimates of cryptorchidism in gastroschisis and spontaneous testicular descent in this population. RESULTS: Twenty-five studies were included for the systematic review. All were retrospective case reports or series for a total of 175 patients. Pooled prevalence estimate for cryptorchidism in gastroschisis was 19% (95% CI 13-26). Complete data sets for management and outcome analysis were available in 94 patients, involving 120 undescended testes [63 (52.5%) nonpalpable, 34 (28.3%) prolapsed outside the abdominal wall defect, and 23 (19.2%) palpable]. Fifty-five descended spontaneously, with a pooled prevalence estimate of 50% (95% CI 31-69). Twelve testes/remnants were primarily removed or absent, while 49 testes underwent orchiopexy (success rate, 63%). Excluding 4 testes still awaiting orchiopexy, 30 of the remaining 116 (25.8%) testes had a dismal outcome, including testicular loss (19), hypoplasia (8) or recurrent cryptorchidism (3). CONCLUSION: Cryptorchidism in gastroschisis appears to occur more frequently than in the normal population. The overall mediocre testicular outcome seems to reflect the most unfavorable presentation of cryptorchidism in gastroschisis, which is represented by originally intrabdominal or prolapsed testis in the majority of cases. LEVEL OF EVIDENCE: IV.

Time to Align: A Call for Consensus on the Assessment of Genetic Testing.

In this paper, we updated our 2018 systematic review aimed to identify and compare ad hoc designed frameworks for genetic testing evaluation. Overall, we identified 30 frameworks (29 in the first systematic review and one in the update): they were mainly based on the ACCE model, whereas a minority were adjustments of the more traditional Health Technology Assessment (HTA) approach. After discussing the strengths and weaknesses of the retrieved frameworks, this perspective calls for consensus on the assessment of genetic testing. In line with the recent European recommendations that encouraged the generation of comparable evidence across Member States, we believe that the time has come to align all the ideas that have emerged over the last few decades and find a sustainable and sharable tool for the evaluation of genetic and genomic applications. Therefore, we suggest stopping the evaluation of such technologies using ad hoc strategies-affected by validation, implementation, and adoption issues-and we propose to use a general HTA approach, particularly the European reference tool for the assessment of health technologies, the EUnetHTA HTA core model, that is built on solid theoretical and methodological principles and provides a comprehensive assessment of the technologies value.

Precision Medicine and Public Health: New Challenges for Effective and Sustainable Health.

The development of high-throughput omics technologies represents an unmissable opportunity for evidence-based prevention of adverse effects on human health. However, the applicability and access to multi-omics tests are limited. In Italy, this is due to the rapid increase of knowledge and the high levels of skill and economic investment initially necessary. The fields of human genetics and public health have highlighted the relevance of an implementation strategy at a national level in Italy, including integration in sanitary regulations and governance instruments. In this review, the emerging field of public health genomics is discussed, including the polygenic scores approach, epigenetic modulation, nutrigenomics, and microbiomes implications. Moreover, the Italian state of implementation is presented. The omics sciences have important implications for the prevention of both communicable and noncommunicable diseases, especially because they can be used to assess the health status during the whole course of life. An effective population health gain is possible if omics tools are implemented for each person after a preliminary assessment of effectiveness in the medium to long term.

Job Satisfaction Among Employees After a Merger: A Cross-Sectional Survey in the Local Health Unit of Sardinia Region, Italy.

Job satisfaction plays an important role in healthcare organization and management; it is critical for maintaining and improving staff efficiency and consequently the quality of care provided. Organizational restructuring processes, including mergers, are likely to affect job satisfaction levels, but evidence of the impact they have is surprisingly scarce. The aim of the study was to describe a methodology used to measure job satisfaction of the employees at a Local Health Unit (LHU) in Italy immediately after a merger and to assess the determinants associated with any reduction in worker satisfaction. The study was conducted among employees of the LHU of the Sardinia Region in July 2018, after a merger of eight subregional LHUs had taken place. The entire staff was enrolled, of which a total of 1,737 employees were surveyed. We used a questionnaire exploring socio-demographic and working characteristics of the employees, the various areas related to job satisfaction and interviewee opinions on the merger process. Multivariable stepwise backward logistic regression models were built to identify factors independently associated with lower job satisfaction. The results of a multivariable analysis showed that lower job satisfaction was more likely in employees with an administrative role (aOR: 2.34, 95% CI: 1.37-4.00) or a career demotion (aOR: 1.84, 95%CI: 1.11-3.03). High levels of mental stress were strongly associated with lower job satisfaction (aOR: 5.64, 95%CI: 4.16-7.64). "More equity of employee rewards" was the only example of a set of responder suggestions found to be associated with lower job satisfaction (aOR: 2.30, 95%CI: 1.51-3.47). Generally, responders showed a good level of job satisfaction-and this was also the case following the merger-but some job profile determinants were strongly associated with low employee satisfaction. The results of the study highlighted several challenging areas and critical issues relating to working conditions. Further surveys are required to confirm these results and to monitor their evolution over time.

Can strain US-elastography with strain ratio (SRE) improve the diagnostic accuracy in the assessment of breast lesions? Preliminary results.

PURPOSE: To assess the diagnostic value of strain ratio elastography (SRE), a semiquantitative elastosonographic method based on the displacement of the tissue from an external source (manual compression with the transducer), as compared and in combination with conventional ultrasound for the differentiation of breast lesions. METHODS: One hundred and eighty-two patients with breast lesions consecutively underwent B-mode, color Doppler US, and strain US-elastography. Each lesion was classified according to the BI-RADS lexicon by evaluating the size, the B-mode, and color Doppler features and then evaluated by SRE. Histology proven by biopsy was used as the gold standard and the patients with malignant lesions subsequently underwent operations. The diagnostic performance of each method was assessed with 2 × 2 contingency tables and ROC curve analysis. To maximize the SRE sensitivity and specificity, the SRE cut-off value was calculated using the Youden test. RESULTS: Histological examination revealed 66 benign and 116 malignant breast lesions. The conventional ultrasound showed sensitivity and specificity for the differentiation of benign and malignant lesions of 86.2% and 75.8%, respectively. Similar results were found for strain US-elastography with a cut-off of 2.49, with sensitivity and specificity of 89.7% and 72.7%, respectively. The association of conventional ultrasound with the SRE value increased the sensitivity (98.3%) but decreased the specificity compared with conventional US alone (63.6%). CONCLUSION: Strain US-elastography can be associated with BI-RADS US examination. According to our preliminary results, it helped increase the sensitivity although it decreased the specificity. However, further multicenter studies on a larger population are warranted.

Continuous Glucose Monitoring System in Acromegalic Patients: Possible Role in the Assessment of Glycemia Control.

BACKGROUND: Acromegaly is characterized by an insulin resistance condition. There is a significant difference between the different types of therapy in relation to the glycometabolic framework. The blinded continuous glucose monitoring system (CGMS), throughout a period of maximum 6 days for a total of 288 glycemic registrations per day, identifies glycemic excursions and could constitute a valid device to understand the 24-hour glycemic profiles. AIM OF THE STUDY: To compare the oral glucose tolerance test (OGTT) and CGMS methods in acromegalic patients to evaluate their glycemic profiles, in relation to different treatments for acromegaly. METHODS: Thirty-five acromegalic patients were divided into 18 somatostatin analogs (SSA), 9 pegvisomant, and 8 successfully surgically treated. A 72-hour CGM was performed and, immediately after, an OGTT. RESULTS: Results obtained from OGTT: 11/35 impaired fasting glucose, 6/35 impaired glucose tolerance, and 4/35 diabetes mellitus. A positive significant correlation was demonstrated between the OGTT peak and CGM peak in all of the patients, CGM peak of patients treated with SSA and those surgically treated, OGTT average and CGM area under concentration-time curve (AUC) for hyperglycemia of patients treated with SSA and those surgically treated, and CGM AUC for hyperglycemia of patients treated with SSA and those surgically treated. CONCLUSIONS: Our results show a significantly higher response in terms of mean and peak OGTT in patients treated with SSA, both compared to the CGM study, and compared to the group of patients receiving pegvisomant. The CGM system could represent an instrument for the evaluation of the glycemic trend of acromegalic patients.

Cost-Effectiveness of RAS Genetic Testing Strategies in Patients With Metastatic Colorectal Cancer: A Systematic Review.

BACKGROUND: Monoclonal antibodies against epidermal growth factor receptor (EGFR) have proved beneficial for the treatment of metastatic colorectal cancer (mCRC), particularly when combined with predictive biomarkers of response. International guidelines recommend anti-EGFR therapy only for RAS (NRAS,KRAS) wild-type tumors because tumors with RAS mutations are unlikely to benefit. OBJECTIVES: We aimed to review the cost-effectiveness of RAS testing in mCRC patients before anti-EGFR therapy and to assess how well economic evaluations adhere to guidelines. METHODS: A systematic review of full economic evaluations comparing RAS testing with no testing was performed for articles published in English between 2000 and 2018. Study quality was assessed using the Quality of Health Economic Studies scale, and the British Medical Journal and the Philips checklists. RESULTS: Six economic evaluations (2 cost-effectiveness analyses, 2 cost-utility analyses, and 2 combined cost-effectiveness and cost-utility analyses) were included. All studies were of good quality and adopted the perspective of the healthcare system/payer; accordingly, only direct medical costs were considered. Four studies presented testing strategies with a favorable incremental cost-effectiveness ratio under the National Institute for Clinical Excellence (£20 000-£30 000/QALY) and the US ($50 000-$100 000/QALY) thresholds. CONCLUSIONS: Testing mCRC patients for RAS status and administering EGFR inhibitors only to patients with RAS wild-type tumors is a more cost-effective strategy than treating all patients without testing. The treatment of mCRC is becoming more personalized, which is essential to avoid inappropriate therapy and unnecessarily high healthcare costs. Future economic assessments should take into account other parameters that reflect the real world (eg, NRAS mutation analysis, toxicity of biological agents, genetic test sensitivity and specificity).

The Current Practice of Lynch Syndrome Diagnosis and Management in Italy: A Qualitative Assessment.

BACKGROUND: Lynch syndrome (LS) is the most frequent form of hereditary colorectal cancer (CRC; up to 3-5% of the total CRC burden) and predisposes to the development of other cancers. Multidisciplinary diagnostic strategies are relevant both to the index cases and to their at-risk relatives, but their implementation is still limited. Our study aimed to explore LS testing practices in Italy. METHODS: In order to ascertain the current practice of LS diagnosis and management, we conducted a qualitative assessment by sending a questionnaire to health care professionals at 4 Italian hospitals selected as "models" representing different hospital settings. Based on the surveys, we reconstructed the management pathways for CRC patients in terms of diagnostic strategies and health professionals involved. RESULTS: Seven of the 8 invited professionals filled in the questionnaire. Noncompliance with the latest guidelines was reported, as no tumor "screening" was performed on CRC cases. The lack of a structured multidisciplinary team who manages CRC patients from risk assessment to diagnosis and follow-up was reported. The availability of professionals and laboratory technologies differ widely between hospitals. As for cascade testing of at-risk relatives, a systematic and active approach was absent in all the considered hospitals. CONCLUSIONS: Our study shows that no structured and standardized pathways for the diagnosis and management of LS patients are currently in place in Italy. We envisage that by extending our research to further experiences and countries, an increasing awareness of the topic can be translated into a health gain for hereditary CRC patients and their at-risk relatives.

How to Integrate Personalized Medicine into Prevention? Recommendations from the Personalized Prevention of Chronic Diseases (PRECeDI) Consortium.

Medical practitioners are increasingly adopting a personalized medicine (PM) approach involving individually tailored patient care. The Personalized Prevention of Chronic Diseases (PRECeDI) consortium project, funded within the Marie Sklodowska Curie Action (MSCA) Research and Innovation Staff Exchange (RISE) scheme, had fostered collaboration on PM research and training with special emphasis on the prevention of chronic diseases. From 2014 to 2018, the PRECeDI consortium trained 50 staff members on personalized prevention of chronic diseases through training and research. The acquisition of skills from researchers came from dedicated secondments from academic and nonacademic institutions aimed at training on several research topics related to personalized prevention of cancer and cardiovascular and neurodegenerative diseases. In detail, 5 research domains were addressed: (1) identification and validation of biomarkers for the primary prevention of cardiovascular diseases, secondary prevention of Alzheimer disease, and tertiary prevention of head and neck cancer; (2) economic evaluation of genomic applications; (3) ethical-legal and policy issues surrounding PM; (4) sociotechnical analysis of the pros and cons of informing healthy individuals on their genome; and (5) identification of organizational models for the provision of predictive genetic testing. Based on the results of the research carried out by the PRECeDI consortium, in November 2018, a set of recommendations for policy makers, scientists, and industry has been issued, with the main goal to foster the integration of PM approaches in the field of chronic disease prevention.

Benefits and challenges of Big Data in healthcare: an overview of the European initiatives.

Healthcare systems around the world are facing incredible challenges due to the ageing population and the related disability, and the increasing use of technologies and citizen's expectations. Improving health outcomes while containing costs acts as a stumbling block. In this context, Big Data can help healthcare providers meet these goals in unprecedented ways. The potential of Big Data in healthcare relies on the ability to detect patterns and to turn high volumes of data into actionable knowledge for precision medicine and decision makers. In several contexts, the use of Big Data in healthcare is already offering solutions for the improvement of patient care and the generation of value in healthcare organizations. This approach requires, however, that all the relevant stakeholders collaborate and adapt the design and performance of their systems. They must build the technological infrastructure to house and converge the massive volume of healthcare data, and to invest in the human capital to guide citizens into this new frontier of human health and well-being. The present work reports an overview of best practice initiatives in Europe related to Big Data analytics in public health and oncology sectors, aimed to generate new knowledge, improve clinical care and streamline public health surveillance.

A proposal of a new evaluation framework towards implementation of genetic tests.

BACKGROUND: The existing frameworks for the evaluation of genetic and genomic applications clearly address the technical and clinical value of a test, but are less concerned with the way genetic services are delivered and organized. We therefore aimed to develop a comprehensive new framework that includes an assessment of service delivery. METHODS: A new framework was built on the evaluation dimensions identified through a systematic review of the existing frameworks and a Delphi survey of Italian experts in public health genomics. RESULTS: Our framework has four sections. The first two sections, respectively, guide the evidence collection process for the genetic test (analytic validity; clinical validity; clinical utility; personal utility) and its delivery models (organizational aspects; economic evaluation; ethical, legal and social implications; patient perspective). The third section guides the formulation of the research priorities to be addressed in future research. Finally, the fourth section suggests three criteria to summarize the collected evidence (net benefit, cost-effectiveness, feasibility). CONCLUSION: We have successfully developed an evaluation framework for the evaluation of genetic tests that includes an assessment of service delivery. It also introduces some neglected evaluation dimensions such as personal utility and patient perspective.

Which Lynch syndrome screening programs could be implemented in the "real world"? A systematic review of economic evaluations.

PURPOSE: Lynch syndrome (LS) screening can significantly reduce cancer morbidity and mortality in mutation carriers. Our aim was to identify cost-effective LS screening programs that can be implemented in the "real world." METHODS: We performed a systematic review of full economic evaluations of genetic screening for LS in different target populations; health outcomes were estimated in life-years gained or quality-adjusted life-years. RESULTS: Overall, 20 studies were included in the systematic review. Based on the study populations, we identified six categories of LS screening program: colorectal cancer (CRC)-based, endometrial cancer-based, general population-based, LS family registry-based, cascade testing-based, and genetics clinic-based screening programs. We performed an in-depth analysis of CRC-based LS programs, classifying them into three additional subcategories: universal, age-targeted, and selective. In five studies, universal programs based on immunohistochemistry, either alone or in combination with the BRAF test, were cost-effective compared with no screening, while in two studies age-targeted programs with a cutoff of 70 years were cost-effective when compared with age-targeted programs with lower age thresholds. CONCLUSION: Universal or <70 years-age-targeted CRC-based LS screening programs are cost-effective and should be implemented in the "real world."

Are community-based nurse-led self-management support interventions effective in chronic patients? Results of a systematic review and meta-analysis.

The expansion of primary care and community-based service delivery systems is intended to meet emerging needs, reduce the costs of hospital-based ambulatory care and prevent avoidable hospital use by the provision of more appropriate care. Great emphasis has been placed on the role of self-management in the complex process of care of patient with long-term conditions. Several studies have determined that nurses, among the health professionals, are more recommended to promote health and deliver preventive programs within the primary care context. The aim of this systematic review and meta-analysis is to assess the efficacy of the nurse-led self-management support versus usual care evaluating patient outcomes in chronic care community programs. Systematic review was carried out in MEDLINE, CINAHL, Scopus and Web of Science including RCTs of nurse-led self-management support interventions performed to improve observer reported outcomes (OROs) and patients reported outcomes (PROs), with any method of communication exchange or education in a community setting on patients >18 years of age with a diagnosis of chronic diseases or multi-morbidity. Of the 7,279 papers initially retrieved, 29 met the inclusion criteria. Meta-analyses on systolic (SBP) and diastolic (DBP) blood pressure reduction (10 studies-3,881 patients) and HbA1c reduction (7 studies-2,669 patients) were carried-out. The pooled MD were: SBP -3.04 (95% CI -5.01--1.06), DBP -1.42 (95% CI -1.42--0.49) and HbA1c -0.15 (95% CI -0.32-0.01) in favor of the experimental groups. Meta-analyses of subgroups showed, among others, a statistically significant effect if the interventions were delivered to patients with diabetes (SBP) or CVD (DBP), if the nurses were specifically trained, if the studies had a sample size higher than 200 patients and if the allocation concealment was not clearly defined. Effects on other OROs and PROs as well as quality of life remain inconclusive.

Which BRCA genetic testing programs are ready for implementation in health care? A systematic review of economic evaluations.

PURPOSE: There is considerable evidence regarding the efficacy and effectiveness of BRCA genetic testing programs, but whether they represent good use of financial resources is not clear. Therefore, we aimed to identify the main health-care programs for BRCA testing and to evaluate their cost-effectiveness. METHODS: We performed a systematic review of full economic evaluations of health-care programs involving BRCA testing. RESULTS: Nine economic evaluations were included, and four main categories of BRCA testing programs were identified: (i) population-based genetic screening of individuals without cancer, either comprehensive or targeted based on ancestry; (ii) family history (FH)-based genetic screening, i.e., testing individuals without cancer but with FH suggestive of BRCA mutation; (iii) familial mutation (FM)-based genetic screening, i.e., testing individuals without cancer but with known familial BRCA mutation; and (iv) cancer-based genetic screening, i.e., testing individuals with BRCA-related cancers. CONCLUSIONS: Currently BRCA1/2 population-based screening represents good value for the money among Ashkenazi Jews only. FH-based screening is potentially very cost-effective, although further studies that include costs of identifying high-risk women are needed. There is no evidence of cost-effectiveness for BRCA screening of all newly diagnosed cases of breast/ovarian cancers followed by cascade testing of relatives, but programs that include tools for identifying affected women at higher risk for inherited forms are promising. Cost-effectiveness is highly sensitive to the cost of BRCA1/2 testing.Genet Med 18 12, 1171-1180.

Low level of attention to health inequalities in prevention planning activities of the Italian Regions.

BACKGROUND: Health promotion and prevention activities should tackle health inequalities to reduce disparities in health among disadvantaged populations. This study aimed to assess the extent to which the Italian Regions considered health inequalities during the planning of prevention activities, to detect geographical differences and to identify the possible determinants of differences in attention to health inequalities. METHODS: The 19 Regional Prevention Plans (RPPs) developed by Italian Regions within the National Prevention Plan (NPP) 2010-2013 were assessed using a specific tool to address the level of attention to health inequalities. Univariate and multivariate analyses were performed to identify regional characteristics associated with a higher level of attention to health inequalities. RESULTS: Of the 702 projects included in the 19 RPPs, only 56 (8.0 %) specifically addressed issues related to health inequalities. The results of the multivariate analysis showed that a higher level of attention was associated with the macroarea of intervention 'prevention in high-risk groups', with the higher quality of the Strategic Plan Section of the RPP and with the higher percentage of migrants in the Region in 2010. Moreover, projects that addressed the topic of health inequalities were more likely to be developed in the Northern Regions, in Regions with a lower level of 'linking social capital' and with a Higher Regional Health Care Expenditure (RHCE) as a percentage of Regional Gross Domestic Product (RGDP) in 2010. CONCLUSIONS: The level of attention to health inequalities in the regional planning process of prevention activities 2010-2013 in Italy is low. The results of this study supported the new round of prevention planning in Italy, and highlight the urgent need to increase the number of policies and interventions able to reduce health inequalities.

Genetic testing and economic evaluations: a systematic review of the literature.

OBJECTIVES: To identify those studies in which economic analysis of predictive genetic and pharmacogenetic testing programs have been carried out. Since the Italian National Prevention Plan 2014-2018 foresees the implementation of genetic testing for inherited breast cancer, special attention was given to the cost-effectiveness of BRCA1/2 testing programs. METHODS: A systematic review of primary economic evaluations (EEs) of predictive genetic and pharmacogenetic testing programs and an overview of previously published systematic reviews of economic evaluations (ERs) was performed. RESULTS: Overall 128 EEs and 11 ERs were identified. The methodological quality of both EEs and ERs was good on average. Both predictive genetic and pharmacogenetic testing programs were mainly concerned with oncological diseases. Seventeen percent of genetic testing programs are cost-saving, while a further 44% of cost/QALY ratios fall under the commonly used threshold of €37,000 per QALY. For BRCA1/2 testing, only cascade genetic screening programs, targeted to close relatives of carriers, show clear evidence of cost-effectiveness. CONCLUSION: Despite some limitations, EEs and ERs are powerful tools that provide indications to policy-makers on which genetic testing programs might be introduced into health care systems and public health practice.

The negative effect of financial constraints on planning prevention activities: some evidence from the Italian experience.

This study was aimed to assess the association between regional financial deficits and Recovery Plans and the quality of the 702 projects developed by the Italian Regions within the National Prevention Plan 2010-13. Multivariate analyses showed significant associations between Recovery Plans and low quality of projects, possibly due to weak regional public health capacities. Regions with Recovery Plans are likely to focus mainly on short-term issues with a high impact on health care costs, leaving few resources available for prevention. A different approach to financial deficit focused on long-term strategies, including those for health promotion and disease prevention, is needed.

Policy and planning of prevention in Italy: Results from an appraisal of prevention plans developed by Regions for the period 2010-2012.

Health policies on disease prevention differ widely between countries. Studies suggest that different countries have much to learn from each other and that significant health gains could be achieved if all countries followed best practice. This paper describes the policy development and planning process relating to prevention activities in Italy, through a critical appraisal of Regional Prevention Plans (RPPs) drafted for the period 2010-2012. The analysis was performed using a specific evaluation tool developed by a Scientific Committee appointed by the Italian Ministry of Health. We appraised nineteen RPPs, comprising a total of 702 projects, most of them in the areas of universal prevention (62.9%) and prevention in high risk groups (27.0%). Italian Regions established prevention activities using an innovative combination of population and high-risk individuals approaches. However, some issues, such as the need to reduce health inequalities, were poorly addressed. The technical drafting of RPPs required some improvement; e.g. the evidence of the effectiveness and cost-effectiveness of the health interventions proposed was seldom reported. There were significant geographical differences across the Regions in the appraisal of RPPs. Our research suggests that continuous assessment of the planning process of prevention may become a very useful tool for monitoring, and ultimately strengthening, public health capacity in the field of prevention. Further research is needed to analyze determinants of regional variation.