Integrating China in the International Consortium for Personalized Medicine: A Position Paper on Personalized Medicine in Sustainable Healthcare.

INTRODUCTION: Over the last decade, the emergence and spread of personalized medicine (PM) have defined a substantial revolution in healthcare. In principle, healthcare system sustainability is challenged by the investments required for research and development, as well as the adoption of PM techniques in routine clinical care. The "Integrating China in the International Consortium for Personalized Medicine" (IC2PerMed) EU-funded project aims to integrate China into the "International Consortium for Personalized Medicine" (ICPerMed). IC2PerMed aims to align the EU and China's research agendas in this field to enable a swift development of approaches in the EU and China with strong leverage upon EU-Chinese collaborations. METHODS: Within this project, we first mapped relevant policies on PM in both the EU and China, and then we involved European and Chinese experts in PM in workshops and Delphi surveys in order to identify relevant priorities for the implementation of PM in sustainable healthcare. RESULTS: As a result of this process, we identified nine overarching priorities, each addressing specific aspects of the sustainability of healthcare systems and PM implementation, with the main goal of supporting policymakers in integrating PM approaches in the EU and China. DISCUSSION/CONCLUSION: The implementation of PM in health systems is appealing in terms of improved accuracy in diagnostics, treatment, and prevention of disease, as well as reduction of the side effects resulting from inefficient use of drugs. Research, development, and implementation of needed techniques require time and resources that can slow the adoption of PM in healthcare systems. The nine priorities we identified address some of the most critical points, trying to lay the foundations for a comprehensive approach.

Integrating China in the international consortium for personalised medicine. a position paper on healthcare professionals' education and citizens' empowerment in personalised medicine.

BACKGROUND: Personalised medicine (PM) has been fostered by technological and medical advances, but all stakeholders, including healthcare professionals, citizens and policy makers, should achieve adequate health literacy to promote PM implementation. The "Integrating China in the International Consortium for Personalised Medicine" (IC2PerMed) project, funded by the International Consortium for Personalised Medicine, focuses on this issue by highlighting the need to educate healthcare professionals and empower citizens. Within the aforementioned project, building on a mapping of European and Chinese policies in PM, experts in the field of PM participated in an online workshop and a following two-round Delphi survey, in order to identify the priority areas of intervention for healthcare professionals' education and curricula, engagement and empowerment of citizens and patients. RESULTS: Nine experts completed the survey and reached a consensus on seventeen priorities: seven were related to health professionals' education and curricula, whereas ten on citizen and patients' awareness and empowerment. CONCLUSION: These priorities emphasized the importance of education and health literacy, multidisciplinary and international collaboration, public trust, and consideration of ethical, legal, and social issues. The present experience highlights the relevance of the involvement of stakeholders in informing decision-makers, developing appropriate national plans, strategies, and policies, and ensuring the adequate implementation of PM in health systems.

An IT Platform Supporting Rectal Cancer Tumor Board Activities: Implementation Process and Impact Analysis.

Colorectal cancer (RC) is the third most common cancer, with an increasing incidence in recent years. Digital health solutions supporting multidisciplinary tumor boards (MTBs) could improve positive outcomes for RC patients. This paper describes the implementation process of a digital solution within the RC-MTB and its impact analysis in the context of the Fondazione Policlinico 'A. Gemelli' in Italy. Adopting a two-phase methodological approach, the first phase qualitatively describes each phase of the implementation of the IT platform, while the second phase quantitatively describes the analysis of the impact of the IT platform. Descriptive and inferential analyses were performed for all variables, with a p-value < 0.05 being considered statistically significant. The implementation of the platform allowed more healthcare professionals to attend meetings and resulted in a decrease in patients sent to the RC-MTB for re-staging and further diagnostic investigations and an increase in patients sent to the RC-MTB for treatment strategies. The results could be attributed to the facilitated access to the platform remotely for specialists, partly compensating for the restrictions imposed by the COVID-19 pandemic, as well as to the integration of the platform into the hospital's IT system. Furthermore, the early involvement of healthcare professionals in the process of customizing the platform to the specific needs of the RC-MTB may have facilitated its use and contributed to the encouraging quantitative results.

Effectiveness of vaccination against SARS-CoV-2 Omicron variant infection, symptomatic disease, and hospitalization: a systematic review and meta-analysis.

BACKGROUND: This meta-analysis aims to assess the effectiveness of the current Sars-Cov2 vaccine regimens against Omicron infection. A secondary endpoint aims to investigate the waning effectiveness of primary vaccination against symptomatic infection and related hospitalization. RESEARCH DESIGN AND METHODS: The systematic review started on 1 December 2021 and was concluded on 1 March 2022. Random-effects frequentist meta-analyses and multiple meta-regressions were performed. RESULTS: In total, 15 studies are included in the quantitative synthesis. According to the meta-analysis results, the overall risk of Sars-Cov2 infection in vaccinated individuals is on average 31 · 5% lower than the infection risk in unvaccinated while vaccinated with one booster dose have a 70 · 4% risk reduction of Omicron infection compared to unvaccinated. In particular, one booster dose significantly decreases by 69% the risk of symptomatic Omicron infection with respect to unvaccinated. Six months after the primary vaccination, the average risk reduction declines to 22% against symptomatic infection and to 55% against hospitalization. CONCLUSIONS: Primary vaccination does not provide sufficient protection against symptomatic Omicron infection. Although the effectiveness of the primary vaccination against hospitalization due to Omicron remains significantly above 50% after 3 months, it dramatically fades after 6 months.

Mitochondrial origin of the matrilocal Mosuo people in China.

The Mosuo people are currently the only matrilocal population in China. The origins of the population and their matrilocal tradition remain unknown. To address these questions, we studied the mitochondrial DNA (mtDNA) diversity of the Mosuo. Lower mtDNA diversity is expected in matrilocal populations because the women remain with their families after marriage, and there is generally less movement of mtDNA genomes in matrilocal populations. However, the haplotype diversity of this population is not lower than the neighboring patrilocal populations, indicating that the Mosuo started practicing matrilocality at least after the Paleolithic Age. A previous haplogroup frequency clustering study indicated that the Mosuo are closest to the Naxi people, but the network analysis of individual sequence haplotypes presented herein shows that most Mosuo lineages cluster with Pumi lineages. Therefore, we concluded that the Mosuo people have the closest genetic relationship with the Pumi, and that they started to practice matrilocality several thousand years ago.

Positive selection on mitochondrial M7 lineages among the Gelong people in Hainan.

Selections on human mitochondrial variations are difficult to examine. In this study, we found possible signs of selection on mitochondrial M7 lineages among the Gelong people who migrated from Guizhou to Hainan (the hottest province in China) throughout the last 1000 years. The genetic structure of the Gelong people shows an obvious sex-biased population admixture pattern with only 4.9% paternal contribution but 30.7% maternal contribution from indigenous Hlai people. According to frequency spectrum tests for deviation from neutrality and mismatch tests of demographic expansion, part of the maternal mitochondrial M7 lineages among the Gelong came from the Hlai had spread quickly and therefore might have undergone positive selection. In the future, whole mitochondrial genome sequencing might reveal the functional advantage of the M7 lineages.

Gene flow between Zhuang and Han populations in the China-Vietnam borderland.

In epidemiological studies, it is easier to glean information from isolated populations with simple genetic backgrounds than from populations with relatively complex genetic backgrounds. Regarded as an isolated population, the Minz (Hei-Yi Zhuang) in Napo County (in the China-Vietnam borderland) has been the subject of numerous recent studies. To assess the genetic isolation of this population, we studied Y chromosome and mitochondrial DNA from Minz and Han in Napo. Both populations exhibited southern Chinese genetic characteristics in both paternal and maternal lineages. Using NETWORK analyses, we found pronounced gene flow between these two populations only in maternal lineages. We also observed gene flow from other populations into the Minz gene pool. We thus concluded that the Minz is not a genetically isolated population and it is increasingly difficult to find isolated populations in mainland East Asia.