Key issues for implementation of Genomics in Healthcare: a Policy Brief

Abstract Issue/problem Healthcare (HC) can significantly benefit from genomic information for earlier, accurate diagnosis, effective personalized treatment with less adverse events, and accurate profiling of individuals for disease prevention. However, European countries are currently at variable maturity stages regarding the implementation of genomic medicine (GM) in healthcare, hindering the equitable delivery of personalized medicine to citizens across borders. Description of the problem The European 1+Million Genomes Initiative (1+MG) aims to provide cross-border access to quality genomic information and related clinical data, to advance data-driven research and HC solutions to benefit citizens. This initiative is encouraging countries to develop national GM strategies, but guidance for successful implementation is needed. In this context, the Beyond 1 Million Genomes, a supporting action to the 1+MG initiative, organized three Country Exchange Visits (CEV) to discuss critical issues, share experiences and best practices, for the implementation of sustainable GM strategies in healthcare. Results The United Kingdom, Estonia and Finland, which have advanced GM programs, hosted CEV describing progress and lessons learnt. Representatives of 1+MG signatory countries participated in these events and were able to present country level progress. The resulting Policy Brief (PB) captures key issues discussed at the CEVs, with real-life examples, and proposes policy recommendations for the successful implementation of GM in European healthcare systems. Lessons Sustainable GM implementation in HC systems requires: 1) Patient and citizens trust and engagement; 2) Sustainable infrastructure and data regulation, with solid ethical and legal frameworks; 3) Capacity building of healthcare professionals; 4) A strong ecosystem involving all stakeholders, and encouraging synergies between healthcare, research and industry to promote continuous innovation. Key messages • The implementation of GM in healthcare will take countries further towards making personalized medicine a reality, with remarkable health and socioeconomic benefits for patients and healthcare systems. • Promoting cooperation, capacity building and sharing of best practices is crucial to reduce asymmetries between countries, which constrains effective and equitable cross-border personalized medicine.


Background:
Severe aortic stenosis prevalence has been growing worldwide and constitutes a public health challenge.The gold-standard treatment is Surgical Aortic Valve Replacement (SAVR) however Transcatheter Aortic Valve Implantation (TAVI) has been increasing, especially in high-risk surgical patients.This study aims identifying the factors associated to the implementation of TAVI to minimize possible disparities in access to health services.

Methods:
This study used data on inpatient discharges from the Portuguese NHS, from 2015 to 2017.SAVR and TAVI, were classified according to the International Classification of Diseases (ICD).Chi-square test and independent T-tests with 1% significance level in the SPSS Õ were performed to identify the factors associated with both interventions.

Conclusions:
TAVI was performed in more severe patients and there was an increase in TAVI over the years, which is consistent with the growing use of the technology among other patients, e.g., the high-risk surgical patients.We also found a geographic pattern in the use of SAVR and TAVI.This might reveal the existence of geographic disparities regarding availability and access to health services.

Key messages:
In Portugal, there is an increase in the performance of TAVI, with geographical concentration that reflects on access.TAVI is more often performed in more severe patients as an alternative to SAVR with similar discharge outcomes.

Background:
Despite policies aiming to curtail men's violence against women (VAW) in Sweden, one in three women have experience physical/sexual VAW.Promoting anti-VAW masculinities among young men is a key intervention to reduce VAW; yet little is known about what actions could be used to effectively do so in Sweden.This study aims to: 1. Identify actions that young people (men and women), and stakeholders believe can be used to promote anti-VAW masculinities and 2. Quantify the relationship, coherence and patterns of importance and applicability between the different identified actions.

Methods:
A mixed-methods study was conducted in Stockholm in 2019.
In-depth interviews with young people aged 18-24 years (men = 16, women = 12) and stakeholders (n = 12) were used to identify actions to promote anti-VAW masculinities.Then, an online survey with 83 people (77 young people) was conducted asking participants to sort the actions and rate them in terms of importance and applicability.Multidimensional scaling and hierarchical cluster analysis were used to create clusters maps.Each cluster was rated in terms of importance and applicability.

Results:
Six clusters were identified: 1.own self-reflection and change, 2. actions in leisure-cultural spaces, 3. mandatory education on gender-VAW, 4. positive role models in public arenas, 5. support civil society and 6. strengthen government, police, and legal response.The clusters of mandatory education on gender-VAW and own self-reflection and change were rated higher in importance (mean 5.1 and 4.8 respectively).Mandatory education on gender-VAW and actions in leisure-cultural spaces were rated higher in applicability (mean 4.6 and 4.7 respectively).Correlation between importance and applicability was low (rho = 0.16).

Conclusions:
Promoting anti-VAW masculinities to tackle VAW should be done in multiple arenas.Mandatory education on gender-

Background:
Improved efficiency is one overall goal in WHO's Health Systems Framework.Efficiency is an important dimension of health system performance assessment (HSPA).HSPA is used as a tool to monitor and evaluate the performance of health systems and to support evidence-based policymaking.In the pilot study for a first German HSPA, efficiency was assessed as one dimension.Methods: Indicators were selected based on a systematic search of established instruments in national and international HSPA initiatives.Criteria for the inclusion of indicators were data availability and international comparability.Where possible, indicators were evaluated in terms of their development over time , in comparison to eight European countries (e.g., Austria, Denmark, France), and regarding equity aspects (e.g., age, gender, region).

Results:
Eight indicators to assess the efficiency of the German health system were identified and analysed accordingly.They cover the pharmaceutical sector, outpatient and inpatient care, and system-wide efficiency.Trend analyses were possible for all indicators, and most were also suitable for international comparisons.Overall, results of the chosen indicators indicate a moderate health system efficiency.The volume of generics as share of all pharmaceuticals, e.g., was 83% in Germany in 2019 (country average: 54%) and has been steadily increasing since 2000.In contrast, expenses for pharmaceuticals overall rose from 1.4% of GDP in 2004 to 1.7% in 2019, whereas it declined from 1.3% to 1.1% on average in the other countries.

Conclusions:
Within this first pilot study, a systematic and comparative German HSPA measuring the efficiency of the German health system using eight predefined indicators was proven to be European Public Health Conference 2022countries are currently at variable maturity stages regarding the implementation of genomic medicine (GM) in healthcare, hindering the equitable delivery of personalized medicine to citizens across borders.Description of the problem:The European 1+Million Genomes Initiative (1+MG) aims to provide cross-border access to quality genomic information and related clinical data, to advance data-driven research and HC solutions to benefit citizens.This initiative is encouraging countries to develop national GM strategies, but guidance for successful implementation is needed.In this context, the Beyond 1 Million Genomes, a supporting action to the 1+MG initiative, organized three Country Exchange Visits (CEV) to discuss critical issues, share experiences and best practices, for the implementation of sustainable GM strategies in healthcare.
/problem: Healthcare (HC) can significantly benefit from genomic information for earlier, accurate diagnosis, effective personalized treatment with less adverse events, and accurate profiling of individuals for disease prevention.However, European 15th