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Background The spread of Personalized Medicine (PM) over the last decade defined a revolution in healthcare systems. PM is among the priorities of the European Commission's research agenda, which funded the IC2PerMed international project aiming to integrate China into the International Consortium of PM (ICPerMed). In the context of this project, we mapped the existing policies related to PM in the European Union (EU) and at the EU Member States (EU-MS) level. Methods PubMed, Google Scholar, Google, Microsoft and national and international institutions' official repositories were searched in order to identify documents on PM-related policies, programmes and action plans at the EU and EU-MS level, published up to December 2020. Results We identified 28 policies in the EU aimed at improving public health promoting and fostering PM implementation, through some actions including the standardization of good medical practice, use of big data and digital innovation, data sharing and cross-border interoperability, healthcare sustainability, disease prevention and patients'/citizens' engagement. We identified 23 policies at EU-MS level which, notwithstanding national differences, have a common focus, such as patient-tailored treatment and targeted prevention, education of healthcare workers, research and innovation, big data harmonization and healthcare system sustainability. Conclusions The definition of an integrated regulatory framework is essential to turn PM into an opportunity for citizens and patients with the involvement of all the stakeholders. This work can provide a valuable tool for decision-makers to define common approaches, priorities for research, development and increase international collaboration, which could overcome the fragmented European scenario and align the future direction on PM. [ABSTRACT FROM AUTHOR]

Background: A need for a governance of genomics in healthcare among European Union (EU) countries arose during an international meeting of experts on public health genomics (PHG). We have conducted a survey on existing national genomic policies in healthcare among Chief Medical Officers (CMOs) of the 28 EU member states, plus Norway. Methods: A questionnaire was sent to CMOs after a meeting on the policy implications of PHG held during the Italian presidency of the Council of EU in 2014. The survey was closed in November 2015. Results: CMOs response rate was 65.5% (19/29). Twelve (63.2%) reported that their countries had a policy for genomics in healthcare in place, and 15 (78.9%) reported that public funding existed. Public research facilities for the development of such policies were documented in 13 (68.4%) countries, and 15 (83.3%) had working groups devoted to policy development. National agencies carrying out Health Technology Assessment of genomic-based technologies were present in nine countries (50%). Sixteen (88.9%) countries reported having agencies dealing with ethical issues related to genomic technologies. About 55% of countries disclosed the lack of information campaigns aimed at citizens, and 44.4% reported they had a legal framework for direct-to-consumer genetic tests. Conclusion: Belgium, France, Italy, Spain and UK documented the presence of a policy on genomics in healthcare. While many caveats are necessary because of the methodology, results suggest a need for a coordinated effort to foster development and harmonization of dedicated policies across EU to responsibly integrate genomics policies into existing health systems. [ABSTRACT FROM AUTHOR]

Iron deficiency anaemia (IDA) is the main extraintestinal manifestation affecting patients with inflammatory bowel disease (IBD). The Health Technology Assessment approach was applied to evaluate the sustainability of intravenous (IV) iron formulations in the Italian hospital setting, with particular focus on ferric carboxymaltose. Data on the epidemiology of IBD and associated IDA, in addition to the efficacy and safety of IV iron formulations currently used in Italy, were retrieved from scientific literature. A hospital-based cost-analysis of the outpatient delivery of IV iron treatments was performed. Organizational and ethical implications were discussed. IDA prevalence in IBD patients varies markedly from 9 to 73%. IV iron preparations were proven to have good efficacy and safety profiles, and ferric carboxymaltose provided a fast correction of haemoglobin and serum ferritin levels in iron-deficient patients. Despite a higher price, ferric carboxymaltose would confer a beneficial effect to the hospital, in terms of reduced cost related to individual patient management and additionally to the patient by reducing the number of infusions and admissions to healthcare facilities. Ethically, the evaluation is appropriate due to its efficacy and compliance. This assessment supports the introduction of ferric carboxymaltose in the Italian outpatient setting. [ABSTRACT FROM AUTHOR]

Previous reports showed altered fatty acid content in subjects with altered sperm parameters compared to normozoospermic individuals. However, these studies focused on a limited number of fatty acids, included a short number of subjects and results varied widely. We conducted a case–control study involving 155 patients allocated into four groups, including normozoospermia (n = 33), oligoasthenoteratozoospermia (n = 32), asthenozoospermia (n = 25), and varicocoele (n = 44). Fatty acid profiling, including 30 species, was analyzed by a validated gas chromatography (GC) method on the whole seminal fluid sample. Multinomial logistic regression modeling was used to identify the associations between fatty acids and the four groups. Specimens from 15 normozoospermic subjects were also analyzed for fatty acids content in the seminal plasma and spermatozoa to study the distribution in the two compartments. Fatty acids lipidome varied markedly between the four groups. Multinomial logistic regression modeling revealed that high levels of palmitic acid, behenic acid, oleic acid, and docosahexaenoic acid (DHA) confer a low risk to stay out of the normozoospermic group. In the whole population, seminal fluid stearic acid was negatively correlated (r = –0.53), and DHA was positively correlated (r = 0.65) with sperm motility. Some fatty acids were preferentially accumulated in spermatozoa and the highest difference was observed for DHA, which was 6.2 times higher in spermatozoa than in seminal plasma. The results of this study highlight complete fatty acids profile in patients with different semen parameters. Given the easy-to-follow and rapid method of analysis, fatty acid profiling by GC method can be used for therapeutic purposes and to measure compliance in infertility trials using fatty acids supplements. [ABSTRACT FROM AUTHOR]

Background: The diffusion of Direct-to-Consumer Genetic Tests (DTCGTs) requires properly literate professionals to appropriately address the challenges they pose to Public Health (PH). Hence, we conducted a survey to assess the current state of knowledge, attitudes, and behaviors of PH professionals members of the European Public Health Association (EUPHA) towards DTCGTs. Methods: The results of a scoping review conducted on PubMed to identify articles on healthcare professionals’ perspectives towards DTC-GTs were used to elaborate a survey, which was validated through a focus group with experts. EUPHA members were invited to participate through email invitation, and EUPHA and EUPHAnxt newsletters. We performed a descriptive analysis of the results, and a univariate analysis to evaluate associations between selected variables. Results: Two hundred and seventy-seven PH professionals (44.4% male, 55.6% female) completed the survey, 67.1% of whom were not involved in genetics or genomics within their professional activities. Although 78.0% were that companies are advertising and selling genetic tests directly to consumers, most of them reported a low level of awareness towards DTCGTs applications and regulation aspects. The majority reported that a qualified health professional be involved in the DTC-GT process (91.7%), and did not feel prepared to address citizens’ questions (64.6%). Eventually, 72.6% of the respondents stated that the provision of DTC-GT should be regulated on a national level, similarly to medicines. Conclusions: Our results revealed a high level of awareness about the existence of DTC-GTs. Despite the overall positive attitudes, PH professionals reported a high need for strengthening regulatory aspects of DTC-GTs provision process. The growing interest of DTC-GTs among citizens and the poor knowledge of PH Professionals about these tests highlights the need to identify strategies for literacy improvement. [ABSTRACT FROM AUTHOR]

Background: Primary care physicians have a crucial role in determining the appropriate healthcare setting for their confirmed or suspect COVID-19 patients. Machine learning provides science-based tools that can be used for clinical decision-making which have already been applied to the fight against Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) both in the therapeutic and the prevention area. The aim of this study was to develop a machine learning-based tool to support primary care physicians to decide between home monitoring and hospitalization for their patients before diagnostic test results are available. Methods: A retrospective cohort study with data from a hospital setting was performed. Patients’ medical history and clinical, laboratory and radiological findings were collected and the dataset was used to train a predictive model for COVID-19 severity. The patients were divided between confirmed and suspect cases on the basis of the positivity of the nasopharyngeal RT PCR test results. A splitting algorithm was recursively used to choose the predictor. A decision tree was built. Results: A total of 198 subjects were enrolled for the study. Out of them, 28 cases were classified as mild disease, 62 as moderate disease, 64 as severe disease, and 44 as critical disease, according to WHO guidelines. The G2 value was used to determine the contribution of each obtained value to build the decision tree. The tree was, therefore, built choosing values that maximized G2 and LogWorth. SpO2 (cut point = 92%) was chosen for the optimal first split. The correspondence between inputs and outcomes was validated. Conclusions: Our tool provides accurate clinical severity prediction for both confirmed and suspect COVID-19 patients. We, therefore, propose its implementation in the everyday life challenges of primary care physicians to support their clinical decisionmaking in providing appropriate and timely care for their patients. Key messages: Primary care physicians have a crucial role in determining the appropriate healthcare setting for their confirmed or suspect COVID-19 patients. We propose a tool that provides an accurate clinical severity prediction for both confirmed and suspect COVID-19 patients to help choosing the appropriate healthcare setting for them. [ABSTRACT FROM AUTHOR]

Objective To assess the effectiveness of an antispasmodic drug, hyoscine-N-butylbromide, in reducing pain during hysterosalpingo-contrast sonography (HyCoSy). Methods Eight hundred and sixteen patients undergoing HyCoSy were randomized to receive 10 mg hyoscine-N-butylbromide ( n = 408) or placebo ( n = 408) per os, 30 min before the procedure, in a double-blind randomized controlled trial. Immediately after the procedure, the patient was asked to describe any pain experienced in comparison with pain usually suffered during the menstrual cycle, and the operator assigned a pain score between 0 and 4 as follows: 0 (no reaction or discomfort), 1 (slight pain, less than menstrual pain), 2 (moderate pain, exceeding menstrual cramps but no vasovagal reaction), 3 (vasovagal reaction or pain requiring observation in a hospital) and 4 (vasovagal reaction or pain requiring resuscitation). The primary aim was to estimate the difference in pain score, considered as a categorical value, between the active arm of the trial and the control group. The secondary aim was to evaluate if pain is related to tubal patency. Results There was no difference in pain score between the hyoscine-N-butylbromide group and the placebo group ( P = 0.807). There was a negative correlation between pain and tubal patency, regardless of treatment group ( P < 0.0001). Conclusions Administration of 10 mg antispasmodic drug hyoscine-N-butylbromide does not reduce pain in patients undergoing HyCoSy. Copyright © 2012 ISUOG. Published by John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

Retreatment of chronic hepatitis C patients nonresponders to interferon (IFN) alone with the standard dose of IFN [3 million units (MU) thrice weekly (TIW)] plus ribavirin for 24 weeks has yielded low sustained virological response (SVR), averaging 8%. The aim of the present, open-labelled, randomized study was to evaluate the efficacy of IFN induction therapy followed by prolonged high dose of IFN plus ribavirin in nonresponders. One hundred and fifty-one patients were randomized to receive 5 MU daily of IFN alfa-2b (group 1,n = 73) or 5 MU TIW of IFN alfa 2b (group 2,n = 78) for 4 weeks followed by IFN (5 MU TIW) plus ribavirin (1000/1200 mg/daily) for 48 weeks in both groups. In an intention-to-treat analysis, the sustained virological response (SVR) at 24-week follow-up was 33 and 23% for group 1 and 2, respectively (P = 0.17). The overall SVR was 52 and 18% in patients with genotype 2/3 and 1/4, respectively. Among genotype 1/4 patients the SVR was 29 and 11% for age younger or older than 40 years. Compared with genotype 2/3 patients, the risk (95% confidence interval) of nonresponse to retreatment was 3.0-fold (1.17–8.0) in younger genotype 1/4 patients and 8.4-fold (3.0–23.29) in older genotype 1/4 patients. In conclusion these results suggest that retreatment with a reinforced regimen should be focused in nonresponder genotype 2/3 patients and younger genotype 1/4 patients, who are most likely to benefit. Induction therapy does not improve SVR. [ABSTRACT FROM AUTHOR]

summary. Retreatment of relapser patients with chronic hepatitis C with the standard dose of interferon (IFN) of 3 million units (MU) thrice weekly (tiw) plus ribavirin for 24 weeks achieves a sustained response in 30 and 73% of patients with genotype 1 and 2 or 3, respectively. The aim of this study was to evaluate the efficacy and safety of IFN α -2b induction therapy, followed by prolonged treatment with a high dose of IFN α -2b plus ribavirin in relapser patients. A total of 119 patients were randomized to receive IFN α -2b 5 MU daily (Group A: 59 patients) or IFN α -2b 5 MU tiw (Group B: 60 patients) for 4 weeks followed by IFN (5 MU tiw) and ribavirin (1000–1200 mg/day) for 48 weeks in both groups. The primary end point was hepatitis C virus (HCV)-RNA clearance at week 24 after the end of treatment. A sustained virological response (SVR) was achieved in 68 and 60% of Group A and B patients, respectively (P = 0.37). Logistic regression analysis identified genotype 2 or 3 as the only independent factor associated with response, whereas induction regimen and baseline viraemia levels did not affect the response. The overall SVR was 53 and 72% in patients with genotype 1 or 4 and 2 or 3, respectively. In conclusion, induction IFN therapy does not enhance the SVR to a 48-week combination therapy. Our study suggests that relapsed patients with genotype 1 or 4 may achieve significant response rates of approximately 50%, if retreated with 5 MU tiw IFN plus ribavirin for 48 weeks. [ABSTRACT FROM AUTHOR]

Background: Vaccine hesitancy is the reluctance or refusal to be vaccinated. While it has been widely studied for various contagious diseases, there is still a lack of knowledge about this phenomenon for COVID-19, especially if health workers’ hesitancy is considered. Methods: An extensive review of the literature was conducted to identify the main determinants of vaccine hesitancy in health workers, as well as to find already validated surveys to evaluate the knowledge, attitudes and behaviors (KAB) of health workers towards vaccination, both in general and with specific regard to COVID-19. Building on the available information, a new survey was developed to assess the KAB of Italian health care workers towards COVID-19 vaccination after validation with a pilot study in a diverse sample of 30 Italian health workers. Results: A new survey was validated to assess the KAB of health workers towards COVID-19 vaccination in Italian health workers. The survey requires about 6 minutes to complete and is composed of 30 questions, investigating different domains: sociodemographic and professional characteristics (6); health status (2); attitudes (11); behaviors (6); knowledge (4). The survey will be administered to a representative sample of at least 385 Italian health workers through the web platform Survey-Monkey in the period June-September 2021. Preliminary results will be available by the end of October 2021. Conclusions: By analyzing KAB towards COVID-19 vaccination with a new tool, the magnitude and determinants of health worker’s COVID-19 vaccine hesitancy will be evaluated to understand how to improve health workers’ perception towards COVID-19 vaccination and, consequently, foster their positive influence on the general population. Key messages: We explore the knowledge, attitudes and behaviors towards COVID-19 vaccination in all categories of health workers operating on the Italian territory to understand the reasons of vaccine hesitancy. Understanding the determinants of COVID-19 vaccine hesitancy in Italian health workers is necessary given their influence on the perception of the general population in Italy. [ABSTRACT FROM AUTHOR]

Background: Progress in genomics has crucial implications for public health. Therefore, a strategic line to define the promotion and governance of omics related innovation is necessary. In this context, citizens education is essential to allow appropriate decisions about their own health. Objectives: As part of a project funded by the Italian Ministry of Health, we carried out in collaboration with an Italian civic organization (Cittadinanzattiva) a survey on citizens’ attitude, knowledge, and educational needs in omics sciences field. On the basis of the results of two our literature reviews and of a survey with experts of the Italian Network of Genomics in Public Health (GENISAP), we developed an ad hoc questionnaire for citizens. It was developed in order to assess the current state of information on omics field in the Italian population. The survey was launched, through the Cittadinanzattiva channels, on October 29, 2020 and it was closed on April 15, 2021. Results: As of April 2021, 359 responses have been collected. The average age of the participants was 46.04 ± 15.77 years. 73.5% of the participants had no knowledge of omics sciences and 66.6% of DTC-GTs. As regards the citizens’ attitudes, 88.6% would change their lifestyle on the basis of the genetic tests results. 89.2% expressed doubts about the reliability of the information received through the media. Almost all believe that citizens are not adequately informed about omics sciences and DTC-GTs and that more training initiatives are necessary on these topics (omics sciences: 95.5%, DTC-GTs: 95%). Conclusions: The omics sciences progress is linked to the need to develop a solid literacy of citizens. For this reason, effective tools of knowledge on the omics sciences field will have to be identified and implemented to improve citizens’ literacy and engagement in this rapidly changing field. [ABSTRACT FROM AUTHOR]

Background: Italy was the first European country to implement a national lockdown because of the COVID-19 pandemic. Worldwide, this pandemic had a huge impact on the mental health of people in many countries causing similar reaction in terms of emotions and concerns at the population level. Our study investigated the impact of the COVID-19 pandemic on psychological well-being in a cohort of Italian university students. Methods: We conducted a cross-sectional survey in the period immediately after the first lockdown through the administration of a questionnaire on the personal websites of students attending their undergraduate courses at the Universita` Cattolica del Sacro Cuore. We used the Patient-HealthEngagement-Scale, Self-Rating-Anxiety-Scale, and SelfRating-Depression-Scale to assess engagement, anxiety symptoms, and depression symptoms of our sample. Results: The sample size was 501 subjects, of which 35.33% were classified as anxious and 72.93% as depressed. Over 90% of respondents had good understanding of the preventive measures despite over 70% suffered from the impossibility of physically seeing friends and partners. Around 55% of students would have been willing to contribute much more to face the pandemic. An increase in the occurrences of anxiety was associated with being female, being student of the Rome campus, suffering from the impossibility of attending university, being distant from colleagues, and being unable of physically seeing one’s partner. Performing physical activity reduced this likelihood. Conclusions: University students are at risk of psychological distress in the case of traumatic events. The evolution of the pandemic is uncertain and may have long-term effects on mental health. Therefore, it is crucial to study the most effective interventions to identify vulnerable subgroups and to plan for acute and long-term psychological services to control and reduce the burden of psychological problems. [ABSTRACT FROM AUTHOR]

Background: Breast Cancer (BC) is estimated to cause 2.3 million yearly new cases worldwide. Efforts towards standardized, quality assured and effective care have led to an increasing complexity and specialization of BC management. This systematic review’s aim is to describe the state-of-the art of available literature investigating the enactment of personalised medicine and patient-centered care models in BC practice and build a framework towards personalised BC care within a patientcentered model. Methods: Databases were searched to retrieve articles reporting on BC management, evaluated in terms of patient-centered and personalised medicine approaches, assessing success factors or limits, in English, from the inception to December 2020. The investigated dimensions for patient-centered care models were audits, communication, informative systems and multidisciplinarity. Concerning Personalised Medicine, investigations were related to molecular boards, genetic testing and shared-clinical decision-making. Results: Out of 1885 records, 25 studies were included in the qualitative analysis. The main success factors are multi-professional collaborations with defined roles and responsibilities, training programs on genomic tools and adequate communication strategy (i.e universal genomic language) to involve patients in the decision-making process. Among detected barriers, delays in genetic testing use were linked to the lack of public reimbursement and of clarity in timing and appropriateness. Conclusions: Both these models are complementary and needed to ensure effective changes in the path of BC patient management. Our framework aims to the transformation of standardized application of evidence-based medicine into a dynamic and personalised care pathway. Key messages: The combination of the two care delivery approaches is scarcely investigated in literature. Our framework would allow to fill such gap and attributes a key role to sharing the decision-making process. [ABSTRACT FROM AUTHOR]

Presents a letter to a editor about ultraviolet and interferon-alfa therapy in a patient with lichen planus and chronic hepatitis C.