Core Competencies in Cancer Genomics for Healthcare Professionals: Results From a Systematic Literature Review and a Delphi Process.

The continuous development and use of genomic sequencing requires healthcare professionals to constantly integrate these advancements into their clinical practice. There is a documented lack of cancer genomics contents in the teaching and learning programs. We aimed to identify the core competencies in cancer genomics for non-genetic healthcare professionals. We performed a literature review in PubMed, SCOPUS, and Web of Science databases to retrieve articles published from 2000 to 2018, in English or Italian language. We included articles that reported the competencies for non-genetic healthcare professionals in cancer genomics. A web-based modified Delphi survey was conducted, aiming to define, through consensus, a set of core competencies that should be covered in the curricula. The international expert panel included specialists in genetics, genomics, oncology, and medical specialists. In the literature review, we retrieved nine articles, from which we identified core competencies for general physicians and nurses. The competencies were organized in three main domains: knowledge, attitudes, and practical abilities. In the second round of Delphi survey, consensus of 83.3% was reached for the definition of the core competencies. Thirty-seven items were defined as the competencies required for physicians and forty-two items for nurses. Through a consensus-based approach, a set of core competencies in cancer genomics for non-genetic healthcare professionals has been identified. Our findings could benchmark standards for curriculum development and future educational strategies.

MicroRNAs expression profiles as diagnostic biomarkers of gastric cancer: a systematic literature review.

OBJECTIVE: The early identification of gastric cancer (GC) represents a major clinical challenge. We conducted a systematic review of studies evaluating the miRNA expression profiling as a diagnostic tool in GC. METHODS: We performed a search of PubMed, ISI Web of Science and SCOPUS databases for studies on diagnostic miRNAs and GC, published in English up to October 2017. Eligibility criteria included case-control studies evaluating blood or tissue-based miRNA expression profiles, and incorporating at least two detection phases (screening and validation). RESULTS: We included 27 eligible studies, that reported on 97 deregulated miRNAs either in blood or tissue, out of which 30 were reported in at least two studies. Among 22 studies on tissue-diagnostic miRNAs, 13 consistently upregulated miRNAs (miR-214, miR-21, miR-103, miR-107, miR-196a, miR-196b, miR-7, miR-135b, miR-222, miR-23b, miR-25, miR-92 and miR-93), and six consistently downregulated miRNAs (miR-148a, miR-375, miR-133b, miR-30a, miR-193a and miR-204) were reported. Ten miRNAs with inconsistent direction of expression in tissues were identified. Among the five studies performed on blood samples, only one miRNA was consistently upregulated (miR-20a). CONCLUSIONS: This review shows that some tissue or blood miRNAs may be considered as potential biomarkers for GC diagnosis, that urgently needs to be confirmed from large prospective studies.

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.

[Omic sciences and capacity building of health professionals: a distance learning training course for Italian physicians, 2017-2018]. / Scienze omiche e capacity building dei professionisti sanitari: corso di formazione a distanza per i medici italiani.

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.

The Value(s) of Vaccination: Building the Scientific Evidence According to a Value-Based Healthcare Approach.

Objectives: To provide a new value-based immunization approach collating the available scientific evidence on the topic. Methods: Four value pillars (personal, allocative, technical, and societal) applied to vaccination field were investigated. A systematic literature review was performed querying three database from December 24th, 2010 to May 27th, 2020. It included studies on vaccine-preventable diseases (VPDs) that mentioned the term value in any part and which were conducted in advanced economies. An in-depth analysis was performed on studies addressing value as key element. Results: Overall, 107 studies were considered. Approximately half of the studies addressed value as a key element but in most of cases (83.3%) only a single pillar was assessed. Furthermore, the majority of papers addressed the technical value by looking only at classical methods for economic assessment of vaccinations whereas very few dealt with societal and allocative pillars. Conclusions: Estimating the vaccinations value is very complex, even though their usefulness is certain. The assessment of the whole value of vaccines and vaccinations is still limited to some domains and should encompass the wider impact on economic growth and societies.

Capacity Building of Health Professionals on Genetics and Genomics Practice: Evaluation of the Effectiveness of a Distance Learning Training Course for Italian Physicians.

BACKGROUND: The rapid spread of personalized medicine requires professionals to manage the "omics revolution." Therefore, the genetics/genomics literacy of healthcare professionals should be in line with the continuous advances in this field, in order to implement its potential implications for diagnosis, control and treatment of diseases. The present study investigates the effectiveness of a distance learning course on genetics and genomics targeted at medical doctors. METHODS: In the context of a project funded by the Italian Ministry of Health, we developed a distance learning course, entitled Genetics and Genomics practice. The course focused on genetic/genomics testing, pharmacogenetics and oncogenomics and was developed according to andragogical training methods (Problem-based Learning and Case-based Learning). We used a pre-test vs. post-test study design to assess knowledge improvement on a set of 10 Multiple Choice Questions (MCQs). We analyzed the proportion of correct answers for each question pre and post-test and the mean score difference stratified by gender, age, professional status and medical discipline. Moreover, the test was submitted to the participants 8 months after the conclusion of the course (follow-up), in order to assess the retained knowledge. RESULTS: The course was completed by 1,637 Italian physicians, most of which were primary care physicians (20.8%), public health professionals (11.5%) and specialist pediatricians (10.6%). The proportion of correct answers increased in the post-test for all the MCQs. The overall mean score significantly increased, from 59.46 in the pre-test to 71.42 in the post-test (p < 0.0001). The comparison in test performance between follow-up and pre-test demonstrated an overall knowledge improvement. CONCLUSION: Genomics literacy among healthcare professionals is essential to ensure optimal translation to healthcare delivery of research. The results of this course suggest that distance-learning training in genetic/genomics practice represents an effective method to improve physicians' knowledge in the immediate and mid-term time scale. A preprint version of this paper is available at: https://www.researchsquare.com/article/rs-10083/v1.

Developing an Evidence-Based Tool for Planning and Evaluating Vaccination Strategies Aimed at Improving Coverage in Elderly and At-Risk Adult Population.

Background: Vaccination coverages need to be constantly maintained and improved with the implementation of vaccination strategies. This paper describes the development of an evidence-based tool to guide their planning and evaluation. Methods: A scoping review was performed in MEDLINE and institutional websites to search for similar available tools. A first version of the tool was developed considering review results and a four-step method used for the control and continuous improvement of processes and products, namely the Deming cycle. A panel of eight experts was then involved in a Delphi study for the finalization of the tool that was eventually discussed in a face-to-face meeting. Results: The scoping review found only one document and the first version of the tool was composed of 30 items. After the Delphi first round, 11 additional items were suggested and 5 original items amended. After the Delphi second round 41 items were eventually included. During the face-to-face meeting, 7 items were recognized as requisites for setting vaccination strategies, whereas 17 as relevant ones. Conclusions: Current public health challenges impose the need for evidence-based tools to organize effective vaccination strategies. Our tool is a first proposal which aims to reflect this focus.

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.

Citizens' Attitudes, Knowledge, and Educational Needs in the Field of Omics Sciences: A Systematic Literature Review.

Background: The huge development of omics sciences is changing the classical medical approach and making new technologies available. In this context, education of citizens is essential to allow appropriate decisions about their own health. Hence, we aimed to summarize existing literature regarding citizens' knowledge, attitudes, and educational needs on omics sciences. Methods: We performed a systematic literature review (SLR) using Pubmed, ISI Web of Science, and Embase databases. The eligibility criteria for inclusion in this review required that the studies investigated knowledge, attitudes, or educational needs regarding omics sciences among the general population. Results: We included 54 studies, published between 2006 and 2020. Most of the included studies (72%) investigated citizens' knowledge, half of them (56%) attitudes, and 20% educational needs in the field of omics sciences, while 52% investigated attitudes and perceptions about genetic and/or omics tests. Most studies (64%) reported a limited knowledge level among citizens, even though most (59%) reported participants understood the benefits of the use of omics sciences into medicine. As for omics tests, a controversial opinion toward their use into practice was reported among citizens. Most of the studies (82%) investigating citizens' educational needs highlighted a clear gap to be filled. Conclusions: Our SLR summarizes current knowledge on citizens' literacy, attitudes, and educational needs on omics science, underlining the need for strengthening public engagement on this topic. Further research is needed, however, to identify appropriate methods and models to achieve such an improvement.

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

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.

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.

Strategies to Increase Flu Vaccination Coverage among Healthcare Workers: A 4 Years Study in a Large Italian Teaching Hospital.

Flu vaccination is recommended among healthcare workers (HCWs). The low vaccination coverage registered in our hospital among HCWs called for new engaging approaches to improve flu vaccination coverage. The aim of this study was to evaluate the efficacy of different strategies implemented during the last four years (2015-2019). A quasi-experimental study was conducted, involving almost 4000 HCWs each year. Starting from the 2015-2016 campaign, new evidence-based strategies were progressively implemented. At the end of each campaign, an evaluation of the vaccination coverage rate reached was performed. Moreover, during the last three campaigns, differences in coverage among job category, wards involved or not in on-site vaccination (OSV) intervention, age classes and gender were analyzed. An increasing flu vaccination coverage rate was registered, from 6% in 2015-2016 to almost 22% at the end of 2018-2019. The overall number of vaccinated HCWs increased, especially at younger ages. OSV strategy always leads to better results, and physicians always show a higher vaccination coverage than nurses and other HCWs. The implemented strategies were effective in achieving higher flu vaccination coverage among HCWs in our hospital and therefore can be considered valuable examples of good prevention practices in hospital settings.

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.

Seasonal influenza vaccination among health-care workers: the impact of different tailored programs in four University hospitals in Rome.

Seasonal influenza vaccination (SIV) of health-care workers (HCWs) is recommended in most countries to protect them and their patients from infection. Although SIV can reduce the risk of influenza complications among vulnerable patients, vaccination uptake is generally unsatisfactory. The present study aimed to assess the impact of different programs in promoting SIV uptake among HCWs during the season 2017/2018 in four teaching hospitals in Rome. A multicentric cross-sectional study was carried out, in order to describe the four different campaigns and to assess their impact by identifying and developing a set of indicators that provide information about the vaccination services, the percentage of invited HCWs, the vaccinators' workforce and the vaccination coverage rates.The hospitals organized different strategies: Hospital 1, 3 and 4 organized educational courses for HCWs and actively invited every single HCW through e-mail. All the hospitals organized a dedicated unit for influenza vaccination, and Hospital 1 added on-site vaccination sessions that required a large number of staff. Hospital 1 and hospital 4 registered a comparable vaccination coverage rate, 12.97% and 12.76%, respectively, while it was 6.88% in Hospital 2 and 4.23% in Hospital 3. Our indicators demonstrated to be effective and useful for analyzing the different SIV campaigns. The results suggest that the best practice to promote SIV among HCWs should include multiple approaches. Among those, an easy access to the vaccination site seems to play a key role in determining a higher vaccination coverage.

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.

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

BACKGROUND: Lynch 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. METHODS: We 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. RESULTS: We 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%. CONCLUSION: This 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.