Screening Programs for Lynch Syndrome in Italy: State of the Art and Future Challenges

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Preferences of healthcare professionals regarding hexavalent pediatric vaccines in Italy: a survey of attitudes and expectations: Hexavalent pediatric vaccines in Italy

Introduction. In Italy, three hexavalent pediatric vaccines are available: two are ready-to-use (RTU) as pre-filled syringes, while the third must be reconstituted (need-for-reconstitution [NFR]). The formulation is related to the vaccination timing, safety of preparation and administration, and possible errors in immunization. We surveyed Italian healthcare professionals (HCPs) experienced with RTU and NFR vaccines in order to investigate their opinions on key aspects of the vaccines. Methods. In Q1 2018, a qualitative study, ethnographic observations and in-depth interviews were performed in public vaccination settings of three Italian Regions. Data on how the vaccination process was managed and perceptions about the value of the RTU formulation were collected. In Q2 2018, face-to-face interviews were carried out to explore the attitude and preferences of Italian HCPs from nine Regions, assessing advantages and disadvantages of the two formulations from a quantitative point of view. In Q3–Q4 data analysis was carried out, using both qualitative and quantitative methodologies. Results. The first phase demonstrated the following advantages of the RTU versus the NFR formulation: time-saving, lower probability of needle contamination and needle stick incidents, better handling, simpler procedure, easier disposal of waste. For the survey, 149 HCPs were interviewed; 80% and 40%, respectively, were very satisfied with the RTU and NFR vaccine. Conclusions. Our study demonstrated that HCPs prefer the RTU formulation, as it simplifies vaccinations, reduces preparation time and minimizes the risk of errors. This formulation also saves time that can be spent on more in-depth counseling

Adherence to Therapy, Physical and Mental Quality of Life in Patients with Multiple Sclerosis

Ensuring multiple sclerosis (MS) patients’ adherence to therapy is often challenging, but it is crucial to their survival and health-related quality of life (HRQoL). The aim of the present study was to outline connections between adherence, physical and mental HRQoL, levels of psychological readiness to engage in a treatment, levels of social support, anthropometric, socio-demographic and clinical factors in patients suffering from MS. This cross-sectional study involved a sample of 237 Italian MS patients. A survey was conducted with a structured self-administered online questionnaire using validated measures of quality of life, adherence to therapy and anthropometric, socio-demographic, psychological and clinical variables. A path analysis was used to test the overall structure of the associations between the variables. The pathway indicates a positive association between mental health index and a stronger degree of engagement and being or having been in a long-term relationship. Physical health index was positively associated with age, having an occupation, and having a specific form of MS. Having had relapses in the previous year raised the odds of better adherence to therapy, while an increase in Body Mass Index (BMI) reduced them. Our findings could help in the management of MS patients, promoting behavioral interventions that take the psychological and socio-demographic peculiarities of each patient into account with a view to improving their adherence to therapy

Relationship between aqueous humor cytokine level changes and retinal vascular changes after intravitreal aflibercept for diabetic macular edema

Abstract The aim of this work was to investigate the changes in aqueous humor cytokine levels after intravitreal injection of aflibercept in diabetic macular edema (DME) and to evaluate the relationship between cytokines modifications and central macular thickness (CMT) and retinal/choroidal vascular changes using structural and functional optical coherence tomography (OCT). Aqueous concentrations of 38 cytokines were measured via multiplex bead assay. In addition, spectral domain OCT and OCT angiography with SSADA software (XR Avanti® AngioVue) were performed at baseline and after intravitreal injections. VEGF, IL-6, IL-5, IL-1β, Eotaxin, GRO, IL-12p40, IL-12p70, IL-1RA, Flt-3L and IP-10 showed a statistically significant decrease through the follow-up (p < 0.05; p < 0.001), while Fraktalkine and GM-CSF significantly increased (p < 0.05). Best corrected visual acuity significantly increased and CMT significantly decreased during follow-up (p < 0.001 and p = 0.013). Superficial capillary plexus and deep capillary plexus density significantly increased (p < 0.001 and p = 0.014). A positive relation was found between GRO, VEGF, Fraktalkine, IP-10, IL-12p70 aqueous humor levels and CMT (p < 0.05; p < 0.001). Aflibercept is a primary anti-VEGF treatment producing a decrease of DME due to the reduction of vascular permeability, nevertheless other inflammatory cytokines showed modification after aflibercept intravitreal injections probably related to edema modification or to an interaction of aflibercept with other inflammatory cytokines

Core competencies in genetics for healthcare professionals: Results from a literature review and a Delphi method

Background: Advances in genetics and genomics require that healthcare professionals manage and incorporate new technologies into the appropriate clinical practice. The aim of this study was to identify core competencies in genetics for non-geneticists, both physicians and non-physicians. Methods: We performed a literature review by searching MEDLINE, SCOPUS, and ISI Web of Science databases to identify studies reporting competencies in genetics in terms of knowledge, attitudes and abilities for non-genetic healthcare professionals. Furthermore, we conducted a survey according to a modified Delphi method, involving genetics experts to evaluate the competencies to be included as items of the curricula. Results: Three eligible documents were identified and 3 Delphi rounds were carried out to reach a consensus on the competencies to be incorporated in the curricula. With reference to the curriculum for physicians, 19 items were included in the knowledge domain, 3 in the attitudes and 10 in the abilities domain. We developed two different curricula for non-physicians: one specific for those working in genetic services (20 items in the knowledge domain, 3 in the attitudes and 12 in the abilities) and one for those not working in genetic services (10 items in the knowledge domain, 3 in the attitudes and 2 in the abilities). Conclusions: We developed 3 curricula in genetics addressed to non-genetic healthcare professionals. They differ in the "knowledge" and "abilities", while the "attitudes" are the same for all the healthcare professionals. Although some concerns about the generalizability of the findings could arise due to the Italian perspective, we envisage the curricula can be used for genetics educational programs in several contexts

A Systematic Review on the Existing Screening Pathways for Lynch Syndrome Identification

BackgroundLynch syndrome (LS) is the most common hereditary colon cancer syndrome, accounting for 3–5% of colorectal cancer (CRC) cases, and it is associated with the development of other cancers. Early detection of individuals with LS is relevant, since they can take advantage of life-saving intensive care surveillance. The debate regarding the best screening policy, however, is far from being concluded. This prompted us to conduct a systematic review of the existing screening pathways for LS.MethodsWe performed a systematic search of MEDLINE, ISI Web of Science, and SCOPUS online databases for the existing screening pathways for LS. The eligibility criteria for inclusion in this review required that the studies evaluated a structured and permanent screening pathway for the identification of LS carriers. The effectiveness of the pathways was analyzed in terms of LS detection rate.ResultsWe identified five eligible studies. All the LS screening pathways started from CRC cases, of which three followed a universal screening approach. Concerning the laboratory procedures, the pathways used immunohistochemistry and/or microsatellite instability testing. If the responses of the tests indicated a risk for LS, the genetic counseling, performed by a geneticist or a genetic counselor, was mandatory to undergo DNA genetic testing. The overall LS detection rate ranged from 0 to 5.2%.ConclusionThis systematic review reported different existing pathways for the identification of LS patients. Although current clinical guidelines suggest to test all the CRC cases to identify LS cases, the actual implementation of pathways for LS identification has not been realized. Large-scale screening programs for LS have the potential to reduce morbidity and mortality for CRC, but coordinated efforts in educating all key stakeholders and addressing public needs are still required

Strategies to Improve Vaccination among At-Risk Adults and the Elderly in Italy

The World Health Organization (WHO), the United States (US) Centers for Disease Control and Prevention (CDC), the European Center for Disease Control (ECDC), and the immunization guidelines of many countries issue vaccination recommendations for adults and the elderly. However, the uptake of vaccination in these groups is generally low due to several reasons. The present study aimed to identify strategies implemented in Italy in unconventional settings to promote vaccination against influenza, pneumococcal, and herpes zoster virus (HZV) infections among these subjects, i.e., the at-risk adult population and the elderly. We conducted a literature review and a survey of experts. The literature search yielded seven strategies; all of these concerned influenza vaccination, while three also addressed pneumococcal and HZV vaccination. The survey of experts identified 15 strategies; 10 regarded influenza vaccination, while four regarded pneumococcal vaccination and one regarded HZV vaccination. Most of the strategies were implemented in hospital clinics and rest homes. Regarding influenza and pneumococcal vaccinations, the target population mainly comprised at-risk adults, while the elderly represented the main target population for HZV vaccination. Our results show that, in Italy, there are initiatives aimed at promoting vaccination in unconventional settings, but further efforts are required to assess their effectiveness and to further extend them

Cost-effectiveness analysis of genetic diagnostic strategies for Lynch syndrome in Italy.

Lynch syndrome (LS) is an autosomal dominant condition caused by pathogenic variants in mismatch repair (MMR) genes that predispose individuals to different malignancies, such as colorectal cancer (CRC) and endometrial cancer. Current guidelines recommended testing for LS in individuals with newly diagnosed CRC to reduce cancer morbidity and mortality in relatives. Economic evaluations in support of such approach, however, are not available in Italy. We developed a decision-analytic model to analyze the cost-effectiveness of LS screening from the perspective of the Italian National Health System. Three testing strategies: the sequencing of all MMR genes without prior tumor analysis (Strategy 1), a sequential IHC and MS-MLPA analysis (Strategy 2), and an age-targeted strategy with a revised Bethesda criteria assessment before IHC and methylation-specific MLPA for patients ≥ than 70 years old (Strategy 3) were analyzed and compared to the "no testing" strategy. Quality Adjusted Life Years (QALYs) in relatives after colonoscopy, aspirin prophylaxis and an intensive gynecological surveillance were estimated through a Markov model. Assuming a CRC incidence rate of 0.09% and a share of patients affected by LS equal to 2.81%, the number of detected pathogenic variants among CRC cases ranges, in a given year, between 910 and 1167 depending on the testing strategy employed. The testing strategies investigated, provided one-time to the entire eligible population (CRC patients), were associated with an overall cost ranging between €1,753,059.93-€10,388,000.00. The incremental cost-effectiveness ratios of the Markov model ranged from €941.24 /QALY to €1,681.93 /QALY, thus supporting that "universal testing" versus "no testing" is cost-effective, but not necessarily in comparison with age-targeted strategies. This is the first economic evaluation on different testing strategies for LS in Italy. The results might support the introduction of cost-effective recommendations for LS screening in Italy

[Omic sciences and capacity building of health professionals: a distance learning training course for Italian physicians, 2017-2018]

Background: Nowadays, a strategy to manage the current "omic revolution" is needed in Italy. Actions aimed to improve genetic/omics "literacy" among health professionals and citizens are necessary, based on recommendations outlined in the Italian 2013 Guidelines on genomics in public health, and the 2018 National Plan for the innovation of the health system based on the omic sciences. Materials and methods: In the context of a project funded by the Italian Ministry of Health, a distance-learning course entitled "Genetic and Genomic practices" was developed, targeted at medical professionals (mainly general practitioners). The main objective of the course was to train physicians in the responsible use of omic technologies. The course was structured according to the main models of adult learning theory (Problem-based-learning and case studies) and delivered on the institutional platform of the Italian National Institute of Health for one year, from February 2017 to February 2018, with the endorsement of the Italian Society of Hygiene and Preventive Medicine and the Italian Society of Human Genetics. Results: In one year, 3,054 participants registered for the course and 53% completed it. About 21% of participants were primary care physicians, 12% were public health physicians and 11% were hospital paediatricians. The most represented age group of participants was 51-65 years and their geographical distribution was 38.5% southern Italy/islands, 36.3% northern Italy and 25.2% central Italy. Pre-test data showed that training needs of primary care physicians was very high. Conclusions: In the current context, characterized by the "omic revolution", physicians must be able to understand its potential implications for the diagnosis, control and treatment of diseases. It is therefore necessary to work on capacity building of all health professionals involved in various ways in the use of the "omic sciences". Distance-learning training in genetic/genomic practices represents a low-cost, satisfactory and clinically applicable method to improve physicians' knowledge