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.

New strategies of physical activity assessment in cystic fibrosis: a pilot study.

BACKGROUND: Regular physical activity (PA) is a valued part of cystic fibrosis (CF) care. Although the accelerometer, SenseWear Armband (SWA), accurately measures habitual PA in CF, it is mostly used for research purposes. For the first time, we analyzed different methods of measuring PA in daily life by the use of smartphones and other electronic devices such as smartwatch and Fitbit. METHODS: Twenty-four stable adults with CF (mean age 37.5 ± 11.5SD yrs.; FEV1 58 ± 19% predicted, BMI 22.9 ± 3.2) were studied. Daily PA was monitored for seven consecutive days. All patients wore the accelerometer SWA and at the same time they monitored PA with the electronic device they used routinely. They were allocated into one of four arms according to their device: Smartwatch, Fitbit, Android smartphones and iOS smartphones. PA related measurements included: duration of PA, energy expenditure, number of steps. RESULTS: There was a good agreement between SWA and Fitbit for number of steps (p = 0.605) and energy expenditure (p = 0.143). iOS smartphones were similar to SWA in monitoring the number of steps (p = 0.911). Significant differences were found between SWA and both Smartwatch and Android smartphones. CONCLUSIONS: Fitbit and iOS smartphones seem to be a valuable approach to monitor daily PA. They provide a good performance to measure step number compared to SWA.

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.

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.