Survey of Professionals of the European Public Health Association (EUPHA) towards Direct-to-Consumer Genetic Testing

Background The increasing availability of Direct-to-Consumer Genetic Tests (DTC-GTs) has great implications for public health (PH) and requires literate healthcare professionals to address the challenges they pose. We designed and conducted a survey to assess the state of knowledge, attitudes and behaviours of PH professionals members of the European Public Health Association (EUPHA) towards DTC-GTs. Methods EUPHA members were invited to participate and fill in the survey. We performed multivariable logistic regression to evaluate associations between selected covariates and knowledge, attitudes and behaviours of healthcare professionals towards DTC-GT. Results Three hundred and two professionals completed the survey, 66.9% of whom were not involved in genetics or genomics within their professional activities. Although 74.5% of respondents were aware that DTC-GTs could be purchased on the web, most of them reported a low level of awareness towards DTC-GTs applications and regulatory aspects. The majority did not approve the provision of DTC-GTs without consultation of a healthcare professional (91.4%), were doubtful about the test utility and validity (61%) and did not feel prepared to address citizens' questions (65.6%). Predictors of knowledge on DTC-GT were the involvement in genetics/genomics and receiving training during the studies (P < 0.0001 and P = 0.043). Predictors of attitudes were medical degree and knowledge about DTC-GTs (P = 0.006 and P = 0.027). Conclusions Our results revealed a high level of awareness of DTC-GT web purchasing and a moderate to low level of awareness towards their applications. Despite the overall positive attitudes, PH professionals reported a high need for strengthening regulatory aspects of DTC-GTs provision process

"Integrating China in the International Consortium for Personalized Medicine": The Coordination and Support Action to Foster Collaboration in Personalized Medicine Development between Europe and China

"Integrating China in the International Consortium for Personalized Medicine" (IC2PerMed) is a coordination and support action funded within the Horizon 2020 work program. Following the guidance of the International Consortium for Personalized Medicine (ICPerMed), the project's overarching aim is to align the European Union and China's research agendas in the field of personalized medicine (PM) to enable a swift development of PM approaches in the EU with strong leverage upon EU-Chinese collaboration. Living in the CO­VID-19 era, we are witnessing how the challenges imposed by the pandemic all around the globe have been acting as a catalyst for collaborations and knowledge sharing among national health systems worldwide. Given the strong interest on behalf of both Europe and China in the advancement of PM approaches, now more than ever, a cross-border collaboration between the 2 powers can accelerate the effective translation of such innovation to healthcare systems, advance research, and ensure that such change follows the directions toward the path of sustainability. IC2PerMed developments will be led by European and Chinese experts equally assembled into 3 Working Groups: (1) people and organization, (2) innovation and market, and (3) research and clinical studies in PM. This complex and dynamic network of actions thrives on dialog, cooperation, and alignment of research at national and global levels; work in the direction taken by IC2PerMed shall pave the way toward the realization of PM's full potential, prevent it from becoming a burden for healthcare systems, and, rather, prove that it provides an essential and irreplaceable contribution to their effectiveness, efficiency, and sustainability

Big data and ICT solutions in the European Union and in China: A comparative analysis of policies in personalized medicine

Introduction: Several countries are either planning or implementing national strategies for the development and integration of Personalized Medicine (PM) into their healthcare systems. Personalized Medicine is an undisputed priority of the European Commission (EC), which has funded the project "Integrating China into the International Consortium for Personalized Medicine" (IC2PerMed), in order to ensure a common basis for Sino-European collaborations. By mapping the current PM landscape in the European Union (EU) and in China, IC2PerMed aims to provide key solutions toward a synergistic and coordinated approach in the field of PM. Methods: An extensive desk research was conducted, aimed at identifying documents on PM-related policies, programs, and action plans in the EU and in China, published up to November 2020. The search was conducted by exploring scientific and gray literature, and official institutional repositories. A descriptive summary condensed the information retrieved for both. Results: Since 2013, the year of publication of the first PM policy by the EC "Use of omics technologies in PM development," several documents have been published. PM is a key element of the policy agenda also in China, which in 2016 integrated PM into the 13th National Five-Year Plan, followed by the publication of several policies on technology infrastructure and big data. Both in the EU and China, especially in recent years, these policies addressed in detail the issues of big data, data interoperability and exchange, while defining the standards of information and communication infrastructures. Conclusions: In order to allow optimal collaboration, it is essential to understand similarities and differences between the respective policy strategies, with particular attention to data management and adopted infrastructures. The results of this project may enable the development of joint Sino-European research and innovation initiatives, promoting developments in the field of PM

A Web Screening on Training Initiatives in Cancer Genomics for Healthcare Professionals

The disruptive advances in genomics contributed to achieve higher levels of precision in the diagnosis and treatment of cancer. This scientific advance entails the need for greater literacy for all healthcare professionals. Our study summarizes the training initiatives conducted worldwide in cancer genomics field for healthcare professionals. We conducted a web search of the training initiatives aimed at improving healthcare professionals’ literacy in cancer genomics undertaken worldwide by using two search engines (Google and Bing) in English language and conducted from 2003 to 2021. A total of 85,649 initiatives were identified. After the screening process, 36 items were included. The majority of training programs were organized in the United States (47%) and in the United Kingdom (28%). Most of the initiatives were conducted in the last five years (83%) by universities (30%) and as web-based modalities (80%). In front of the technological advances in genomics, education in cancer genomics remains fundamental. Our results may contribute to provide an update on the development of educational programs to build a skilled and appropriately trained genomics health workforce in the future

European citizens' perspectives on direct-to-consumer genetic testing: an updated systematic review

Background: Direct-to-consumer genetic tests (DTC-GTs) are genetic tests for a medical or non-medical trait that are sold directly to the public, usually ordered without the engagement of a healthcare professional. Our aim was to explore the knowledge, attitudes and behaviors toward DTC-GTs among European citizens. Methods: We updated the most recent systematic review on citizens' perspectives toward DTC-GTs. Relevant English language studies were searched on PubMed, ISI Web of Science, Scopus, Embase and Google Scholar from October 2014 to April 2019. We extended our search on Scopus without publication date restriction, since it was not included in the former review. Eligible studies were conducted in European countries and reported original data. The quality of the studies was evaluated using a checklist developed by Kmet et al. Results: We included six studies conducted in European countries between 2015 and 2018. The studies were performed among general population in the Netherlands, students in Italy and Greece, laypeople in Germany and older adults in Switzerland. The level of awareness, in overall low, differed by country and population group. Most of the participants were interested in undergoing a DTC-GT, mainly for knowing the risk predisposition to a common disease. Concerns were raised about tests' validity and utility and data privacy. Conclusions: Our review shows that European citizens, overall, have a low level of knowledge on DTC-GTs and a high interest in their purchase. This understanding might contribute to the development of educational programs in order to the increase of general public capabilities to make appropriate health decisions

A survey of experts on personalized medicine landscape in European Union and China

Abstract Introduction Personalized Medicine (PM) is one of the main priorities of the research agenda of the European Commission and the focus of the European Coordination and Support Action titled “Integrating China into the International Consortium for Personalized Medicine” (IC2PerMed). Similar to the European focus, PM is a current priority of the Chinese Government, through dedicated policies and its five-year investment plans. In the context of IC2PerMed, we implemented a survey to understand the state of the art of the implementation of PM related policies in EU and China, and to identify opportunities for future Sino-European collaborations. Methods The survey was elaborated by the IC2PerMed consortium and validated by a focus group of experts. The final version, in English and Chinese, was administered online to a pool of accurately selected experts. Participation was anonymous and voluntary. The survey consists of 19 questions in 3 sections: (1) personal information; (2) policy in PM; (3) facilitating and hindering factors for Sino-European collaboration in PM. Results Forty-seven experts completed the survey, 27 from Europe and 20 from China. Only four participants were aware of the implementation of PM-related policies in their working country. Expert reported that PM areas with greatest policy impact so far were: Big Data and digital solutions; citizen and patient literacy; and translational research. The main obstacles found were the lack of shared investment strategies and the limited application of scientific developments in clinical practice. Aligning European and Chinese efforts, finding common ground across cultural, social, and language barriers, were considered as actions needed to enhance efforts in applying PM strategies internationally. Conclusion To achieve efficiency and sustainability of health systems, it remains crucial to transform PM into an opportunity for all citizens and patients with the commitment of all the stakeholders involved. The results obtained aim to help define common research and development approaches, standards and priorities and increase collaboration at international level, as well as provide key solutions to enable convergence towards a common PM research, innovation, development and implementation approach between Europe and China

Does femoroacetabular impingement syndrome affect range of motion? A systematic review with meta-analysis

AbstractBackgroundIt is unclear whether femoroacetabular impingement syndrome (FAIS) affect hip range of motion (ROM).Sources of dataWe performed a systematic review with meta-analysis searching six electronic databases from inception to March 21, 2022. We included studies assessing hip ROM in FAIS, FAI morphology without symptoms (FAIm), and healthy controls. Mean differences between groups were measured in ROM degrees with 95% confidence interval (CI).Areas of agreementA total of 17 studies (1702 hips) were included. Comparison of FAIS patients versus healthy controls showed that hip ROM was clinically and statistically reduced in FAIS for internal rotation (90° hip flexion, −8.01°, 95% CI: –11.21, −4.90; 0° hip flexion −6.38°, 95% CI: –9.79, −2.97); adduction (90° hip flexion, −4.74°, 95% CI: –8.13, −1.34); flexion (−5.41°, 95% CI: –7.05, −3.49), abduction (0° hip flexion, −5.76°, 95% CI: –8.38, −3.23), and external rotation (90° hip flexion, −3.5°, 95% CI: –5.32, −1.67) ranging from low to high certainty of evidence. Comparison of FAIm versus healthy controls showed no statistically significant differences in any direction of movement, albeit with uncertainty of evidence.Areas of controversyThe certainty of evidence was unclear, particularly for asymptomatic FAIm.Growing pointsHip ROM may be reduced in all directions except extension in FAIS compared to controls. Hip ROM may not be restricted in asymptomatic FAIm.Areas timely for developing researchFurther studies are needed to resolve the uncertainty of evidence about ROM restrictions in asymptomatic FAIm compared to healthy controls

Complete Uterine Septum, Double Cervix and Vaginal Septum (U2b C2 V1): Hysteroscopic Management and Fertility Outcomes—A Systematic Review

Background: complete uterine septum, double cervix and vaginal septum is a rare complex Müllerian anomaly affecting patients’ quality of life in terms of fertility and pelvic pain. The aim of our review is to gather the studies concerning the diagnosis and treatment this complex malformation and to describe the related fertility outcomes. Methods: this study was conducted in 2022, according to the criteria of Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) and the protocol was submitted to the International Prospective Register for Systematic Reviews (PROSPERO). PubMed, Scopus and Web of Science electronic databases were searched to find eligible articles. In total, 538 articles were identified through literature research. A total of ten articles satisfied the eligibility criteria and were included in the systematic review. Results: 86 affected women were evaluated, and 71 of them were treated. Almost all patients included in our research presented with primary infertility or with a history of recurrent miscarriages; half of all patients also reported dyspareunia. After surgical treatment, 47 pregnancies were achieved: 41 live birth and ongoing pregnancies and six spontaneous miscarriages occurred; a significantly lower miscarriage rate was reported after surgical treatment. Conclusion: hysteroscopic treatment of U2b C2 V1 anomaly can be safely performed, leading to favorable fertility outcomes, measured as the achievement of pregnancy and a reduction in miscarriage rate

Uncommon presentation of a giant psoas muscle lipoma: a case report and brief literature review

Giant retroperitoneal lipomas, particularly within the psoas muscle, are a rare condition. We herein present one such case of a 45-year-old Italian man and a literature review. There are only two case reports published in the literature, thus posing challenges for the appropriate diagnosis and treatment. Our patient was admitted to the emergency department with colicky abdominal pain. Computerized tomography (CT) with contrast enhancement revealed kidney stones and a 19.5x13.6x18 cm mass of adipose tissue with septa located in the right retroperitoneum, in close continuity with the right psoas major muscle. Magnetic resonance imaging showed a voluminous neoformation with predominantly adipose content and a compressive effect on adjacent vascular structures. The CT-guided biopsy indicated spindle cell mesenchymal neoplasm, not otherwise specified. Surgical resection of the retroperitoneal mass with the capsule was performed, and a histopathology examination confirmed the diagnosis of spindle cell lipoma. Despite the fact that CT and MRI are the main diagnostic tools, this case report emphasizes the need for a CT-guided core needle biopsy prior to surgery for appropriate diagnosis