Marco Colotto

Beyond public health genomics: proposals from an international working group

Advances in genomics have crucial implications for public health, offering new ways of differentiating individuals and groups within populations that go beyond the measures normally used by public health professionals, such as gender, age, socio-economic status, physiological measurements or clinical biomarkers.1 While public health has traditionally been concerned with interventions at a population level, genomic medicine seems to promote a vision for health care that encourages individualism rather than collectivism.2 This tension is apparent in weighing up its consequences. Thus, it may bring benefits in stratifying individuals according to genetic risk, enabling better targeting of preventive and therapeutic interventions. But it may also have harmful consequences undermining the imperative to tackle social and environmental determinants of disease and the collective provision of health care potentially leading to overdiagnosis/overtreatment; it may fragment the risk pooling that underpins social solidarity; and it may increase the probability of stigmatization and discrimination. Consequently, the public health community, with its commitment to equity, must take the opportunity to engage with genomic knowledge, ensuring that it advances the population’s health. These issues were explored in January 2014 at the inaugural meeting of an international working group on ‘Beyond Public Health Genomics’, convening leading experts in genomics, public health, clinical sciences, systems medicine, law and bioethics, from many disciplines and countries, at the Universita Cattolica del Sacro Cuore in Rome. Its goal, inspired by the 2005 Bellagio statement on public health genomics, defined as the ‘responsible and effective translation of genome-based discovery into population health,3 was to generate high value-based proposals to foster the evidence base for implementing genomic discoveries in public health policy and practice, and to ensure necessary action while accounting for the challenge of needing to fund these workstreams in the current environment of diminishing resources. The contribution of genomics to …

Current state of genomic policies in healthcare among EU member states: results of a survey of chief medical officers

Abstract 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 co-ordinated effort to foster development and harmonization of dedicated policies across EU to responsibly integrate genomics policies into existing health systems.

Socio-economic determinants of physical activity across the life course : A 'DEterminants of DIet and Physical ACtivity' (DEDIPAC) umbrella literature review

Background To date, the scientific literature on socioeconomic correlates and determinants of physical activity behaviours has been dispersed throughout a number of systematic reviews, often focusing on one factor (e.g. education or parental income) in one specific age group (e.g. pre-school children or adults). The aim of this umbrella review is to provide a comprehensive and systematic overview of the scientific literature from previously conducted research by summarising and synthesising the importance and strength of the evidence related to socioeconomic correlates and determinants of PA behaviours across the life course. Methods Medline, Embase, ISI Web of Science, Scopus and SPORTDiscus were searched for systematic literature reviews and meta-analyses of observational studies investigating the association between socioeconomic determinants of PA and PA itself (from January 2004 to September 2017). Data extraction evaluated the importance of determinants, strength of evidence, and methodological quality of the selected papers. The full protocol is available from PROSPERO (PROSPERO2014:CRD42015010616). Results Nineteen reviews were included. Moderate methodological quality emerged. For adults, convincing evidence supports a relationship between PA and socioeconomic status (SES), especially in relation to leisure time (positive relationship) and occupational PA (negative relationship). Conversely, no association between PA and SES or parental SES was found for pre-school, school-aged children and adolescents. Conclusions Available evidence on the socioeconomic determinants of PA behaviour across the life course is probable (shows fairly consistent associations) at best. While some evidence is available for adults, less was available for youth. This is mainly due to a limited quantity of primary studies, weak research designs and lack of accuracy in the PA and SES assessment methods employed. Further PA domain specific studies using longitudinal design and clear measures of SES and PA assessment are required.

Medical student’s 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 Universita 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.

Student’s 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. 74% of the sample were interested in undergoing DTC genetic test and the main reason was being aware of 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. Luca Giraldi (1), Marco Colotto (1), Roberta Pastorino (1), Dario Arzani (1), Effy Vayena (2), Christian Ineichen (2), Stefania Boccia (1) (1) Section of Hygiene, Department of Public Health, Institute of Public Health, Università Cattolica del Sacro Cuore, Rome, Italy (2) Institute of Biomedical Ethics and history of medicine, University of Zurich, Zurich, Switzerland CORRESPONDING AUTHOR: Dr. Luca Giraldi, Section of Hygiene, Department of Public Health, Institute of Public Health, Università Cattolica del Sacro Cuore, Largo F. Vito 1-00168 Rome, Italy. E-mail: luca.giraldi@rm.unicatt.it DOI: 10.2427/11883 Accepted on June 16, 2016

Can Clinical Governance tools improve the appropriateness in hospital stay

Data on all somatic specialist hospital admissions in Finland, both public and private, in 1998-2010 were obtained from the Hospital Discharge Register. The register data were limited to patients aged 25-85 years. Patients’ disposable family income each year was individually linked to each admission from the Employment Statistics and adjusted for family size. Main disease categories were formed using DRG classification. Agestandardised admission costs and cost per bed day were calculated per 100 000 person years for men and women separately and deflated for 2010. Time trends were analysed using concentration index. Results Hospital admission costs reduced with increasing income. The differences between the extreme quintiles widened from 1998 to 2010. In 1998, men in the lowest income group had on average EUR 552 (12%) higher admission costs than men in the highest, while in 2010, the difference was EUR 1187 (24%). The corresponding figures for women were EUR 444 (12%) and EUR 814 (18%). A similar pattern was found in main DRG disease categories and number of bed days. A reverse pattern was found in costs per bed day. In 1998, the highest income group among men had EUR 104 (21%), and in 2010, EUR 222 (28%) higher costs per bed day than the lowest. The results were similar for women. The differences between income groups were prominent in disease categories involving surgery, while less evident in non-surgical disease categories such as diseases of the nervous and respiratory system. Discussion One of the main reasons for the differences in hospital costs between income groups is likely to be the observed differences in length of stay. The shorter length of stay among highincome earners may originate from their overall better health. The higher costs per bed day among high-income patients may originate from differential morbidity profiles or inequality in the use of more costly health care technology. Key messages An inverse stepwise gradient was found between income groups as reported by earlier research. However, according to our results this is likely to be due to longer length of stay. High-income groups were found to have higher costs per ded day, which may be due to use of more costly health care technology.