Medical Students Knowledge and Attitude Towards Direct-To-Consumer Genetic Tests

Aims: This study reports on the attitudes of 179 Italian Medical Students to direct-to-consumer genetic test and to participation in research practices. Methods: Data were collected using a self-completion online questionnaire sent to 380 medical students at the faculty of Medicine of the Università Cattolica del Sacro Cuore in Rome, Italy. Questions pertained issues related to awareness and attitudes towards genetic testing, reactions to hypothetical results, and views about contributing to scientific research. Results: The response rate was 47.1%. Less than 50% of students were aware of DTC genetic test. Seventy-four percent of the sample were interested in undergoing DTC genetic test, and the main reason was being aware on genetic predisposition to diseases. Among those who were not willing to undergo a genetic test, the main reason was the lack of confidence in the results. In the hypothetical situations of an increased disease risk after undergoing DTC genetic testing, respondents would take actions to reduce that risk, while in the opposite scenario they would feel unaffected because of the probabilistic nature of the test. Conclusions: We reported a good level of awareness about DTC genetic test and a high interest in undergoing DTC genetic test in our sample. Nevertheless, opinions and reactions are strongly dependent by the hypothetical good or bad result that the test could provide and by the context whereby a genetic test could be performed. Respondents seem to be exposed to the risk of psychological harms, and a strong regulation regarding their use is required

The role of the LISTANet Consortium in the European DEDIPAC-KH project

Aim:To improve understanding of the determinants of dietary, physical activity (PA), and sedentary behaviours, the European multi-disciplinary consortium on “Determinants of Diet and Physical Activity Knowledge Hub” (DEDIPAC-KH) includes 46 consortia and organisations supported by joint programming grants from 12 countries across Europe (Lakerveld et al., 2014). Six Italian Universities (e.g., Cassino, Chieti-Pescara, Palermo, Roma Foro Italico, Roma Sapienza, and UCSC) participating in the LISTANet consortium supported by MIUR (B84G14000040008) contributed to the Thematic Area2 “Determinants of dietary, PA, and sedentary behaviours across the life course and in vulnerable groups”. In particular, the coordinator of LISTANet Prof Capranica and Prof. MacDonncha from the Irish Physical Activity and Health Consortium act as Work Package (WP) Leaders of PA determinants (WP2.2). Methods: A mix of methods has been used in identifying PA determinants by developing PA taxonomy and a European framework (EU-PAD), seven umbrella systematic literature reviews (e.g., behavioural, biological, economic, physical, policy, psychological, and socio-cultural), and identifying ongoing/recently completed European-funded projects and data sets for secondary data analyses. Results: LISTANet participated in DEDIPAC-KH meetings/seminars/courses/conferences, and organized two workshops dedicated to the EU-PAD framework and umbrella SLRs. Outcomes included internal reports, presentations to international conferences, and scientific papers submitted for publications. Conclusions: The DEDIPAC-KH project represents an excellent start in setting up a complex, cross-country, organisational structure to: 1) guide a European strategic plan for novel and multi-disciplinary research addressing the complexity of determinants of PA behaviours across the life course; and 2) identify key aspects for potential strategies and intervention programmes to implement multi-sectoral European policies in PA. Finally, the cumulated experience of LISTANet could be valuable to fully exploit effective research and actions to increase PA levels of Italian citizens

Double coronary artery anomaly in an elderly asymptomatic patient with positive electrocardiogram stress test

Malignant coronary artery anomalies and myocardial bridging are more common findings in young patients with cardiac symptoms, but these two associated yet different types of anomalies in an elderly patient has been rarely described. The following case describes the diagnostic use of 128-slice coronary-computed tomography images of an 82-year-old male, former professional soccer player, who reached the age of 82 years without any symptoms of coronary heart disease. In this patient, an association of a malignant coronary artery anomaly of origin and course (left descending coronary artery originating from the right sinus of valsalva running between the aorta and the right ventricular outflow tract), together with a long myocardial bridging over the obtuse marginal branch was diagnosed by multi-slice computed tomography thanks to an initial positive electrocardiogram screening stress test

PFAPA Syndrome in a Young Adult with a History of Tonsillectomy

Since its clinical definition in 1987, the syndrome called, "periodic fever, aphtous stomatitis, pharyngitis and cervical adenitis" syndrome (PFAPA) has been considered peculiar to pediatric age. In the recent literature there are a few case reports of PFAPA in adults. We describe a case of a 21-year-old female affected by PFAPA who presented a history of tonsillectomy at the age of four. To our knowledge this is the fourth case described with a diagnosis of PFAPA in an adult with a history of tonsillectomy during childhood. Although the role of tonsillectomy in the treatment of PFAPA is still controversial, due to the lack of definitive data in literature, this case suggests that fever episodes may relapse several years after surgery

Knowledge and attitude of general pratictioners towards direct-to-consumer genomic tests: a survey conducted in Italy

Background: Personal genomic tests (PGT) offered directly-to-consumers (DTC) for complex disease risk assessment have raised several concerns regarding their potential adverse impact. To mitigate worries continuing professional education has been advocated and the central gatekeeper role of family physicians has been highlighted. Nevertheless, to date, only few studies have been published on awareness, involvement and attitudes of  primary healthcare providers on DTC marketing of PGT and, to the best of our knowledge, none in Italy. Methods: An exploratory survey to achieve information about knowledge and attitudes towards DTC-PGT of a selected group of family physicians participating to courses on predictive medicine and public health genomics was conducted.   Results: A total amount of 114 partially or fully filled questionnaires was obtained. The majority of the primary care providers (68,4%)  expressed that they are unaware that companies are selling genomic tests directly to consumers, while 31,6% was aware.  In terms of attitudes toward testing 61,1% of the aware respondents deemed the DTC-PGT for chronic complex diseases to be ‘‘not clinically useful.’’  The overwhelming majority of our respondents (95,6%) felt unprepared to answer patients’ questions on DTC-PGT. If only aware respondents are considered this percentage results obviously  lower (86,1%), though still very high.   Conclusion: The low percentage of aware respondents suggests that DTC advertising in the realm of genomic testing is still limited in Italy. Should DTC-PGT become more widely used, a comprehensive education program may be necessary to increase family physicians’ awareness and help them discuss testing with their patients.&nbsp

Medical Students Knowledge and Attitude Towards Direct-To-Consumer Genetic Tests

Aims: This study reports on the attitudes of 179 Italian Medical Students to direct-to-consumer genetic test and to participation in research practices. Methods: Data were collected using a self-completion online questionnaire sent to 380 medical students at the faculty of Medicine of the Università Cattolica del Sacro Cuore in Rome, Italy. Questions pertained issues related to awareness and attitudes towards genetic testing, reactions to hypothetical results, and views about contributing to scientific research. Results: The response rate was 47.1%. Less than 50% of students were aware of DTC genetic test. Seventy-four percent of the sample were interested in undergoing DTC genetic test, and the main reason was being aware on genetic predisposition to diseases. Among those who were not willing to undergo a genetic test, the main reason was the lack of confidence in the results. In the hypothetical situations of an increased disease risk after undergoing DTC genetic testing, respondents would take actions to reduce that risk, while in the opposite scenario they would feel unaffected because of the probabilistic nature of the test. Conclusions: We reported a good level of awareness about DTC genetic test and a high interest in undergoing DTC genetic test in our sample. Nevertheless, opinions and reactions are strongly dependent by the hypothetical good or bad result that the test could provide and by the context whereby a genetic test could be performed. Respondents seem to be exposed to the risk of psychological harms, and a strong regulation regarding their use is required

Molecular epidemiology tools in the management of healthcare-associated infections: towards the definition of recommendations

INTRODUCTION: Healthcare-Associated Infections (HAIs) are an important cause of morbidity and mortality worldwide and have a significant economic impact for health systems. Molecular epidemiology tools have a central role in HAI prevention programs. In order to give an overview of their specific advantages and disadvantages we reported current and new molecular typing methods for HAI outbreak detection and epidemiological surveillance. METHODS: The current review was drafted as a short version of a longer document written by the Public Health Genomics (GSP) working group, and the Italian Study Group of Hospital Hygiene (GISIO), entitled Molecular epidemiology of Healthcare Associated Infections: recommendations from the Italian Society of Hygiene, Preventive Medicine and Public Health (SItI). This text considers various aspects related to HAIs: the role of genotyping and bioinformatics, the organizational levels of laboratories, as well as ethical and economic aspects. CONCLUSIONS: The use of molecular epidemiology represents a key tool in the management of HAIs, to be used as a complement to conventional control measures. The present contribution aims to increase knowledge on the proper use of such methods, given the major challenge HAI represents for National Health systems

Heart rate, conduction and ultrasound abnormalities in adults with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type

Joint hypermobility syndrome (JHS) and Ehlers-Danlos syndrome, hypermobility type (EDS-HT) are two clinically overlapping heritable connective tissue disorders strongly associating with pain, fatigue and other secondary aspects. Though not considered a diagnostic criterion for most EDS subtypes, cardiovascular involvement is a well-known complication in EDS. A case-control study was carried out on 28 adults with JHS/EDS-HT diagnosed according to current criteria, compared to 29 healthy subjects evaluating resting electrocardiographic (ECG), 24-h ECG and resting heart ultrasound data. Results obtained in the ECG studies showed a moderate excess in duration of the PR interval and P wave, an excess of heart conduction and rate abnormalities and an increased rate of mitral and tricuspid valve insufficiency often complicating with "true" mitral valve prolapse in the ecocardiographic study. These variable ECG subclinical anomalies reported in our sample may represent the resting surrogate of such a subnormal cardiovascular response to postural changes that are known to be present in patients with JHS/EDS-HT. Our findings indicate the usefulness of a full cardiologic evaluation of adults with JHS/EDS-HT for the correct management

[Implementation of Italian guidelines on public health genomics in Italy: a challenging policy of the NHS]

Genomics and related fields are becoming increasingly relevant in health care practice. Italy is the first European country that has a structured policy of Public Health Genomics. Nevertheless, what should be the role of genomics in a public health perspective and how public health professionals should engage with advances in genomics' knowledge and technology, is still not entirely clear