Medical records confidentiality and public health research: two values at stake? An italian survey focus on individual preferences

In a time when Europe is preparing to introduce new regulations on privacy protection, we conducted a survey among 1700 twins enrolled in the Italian Twin Register about the access and use of their medical records for public health research without explicit informed consent. A great majority of respondents would refuse or are doubtful about the access and use of hospital discharge records or clinical data without their explicit consent. Young and female individuals represent the modal profile of these careful people. As information retrieved from medical records is crucial for progressing knowledge, it is important to promote a better understanding of the value of public health research activities among the general population. Furthermore, public opinions are relevant to policy making, and concerns and preferences about privacy and confidentiality in research can contribute to the design of procedures to exploit medical records effectively and customize the protection of individuals’ medical data

Research understanding, attitude and awareness towards biobanking: a survey among Italian twin participants to a genetic epidemiological study

<p>Abstract</p> <p>Background</p> <p>The Italian Twin Registry (ITR) has been carrying out several genetic-epidemiological studies. Collection and storage of biological material from study participants has recently increased in the light of biobanking development. Within this scenario, we aimed at investigating understanding, awareness and attitude towards blood/DNA donation of research participants. About these quite unknown dimensions more knowledge is needed from ethical and social perspectives.</p> <p>Methods</p> <p>Cross-sectional mail survey to explore three dimensions: (i) understanding of aims and method of a specific study, (ii) attitude (three ideas for donation: "moral duty", "pragmatism", "spontaneity") and (iii) awareness (i.e. the recall of having been asked to donate) towards blood/DNA donation for research, among all the Italian twins who had participated in Euroclot (n = 181), a large international genetic-epidemiological study. Multivariate models were applied to investigate the association of sex, age, education and modality of Euroclot recruitment (twins enrolled in the ITR and volunteers) with the targeted dimensions. Pair-wise twin concordance for the "pragmatic" attitude was estimated in monozygotic and dizygotic pairs.</p> <p>Results</p> <p>Response rate was 56% (99 subjects); 75.8% understood the Euroclot method, only 33.3% correctly answered about the study aim. A significantly better understanding of aim and method was detected in "volunteers". Graduated subjects were more likely to understand study aim. In the overall sample, the "pragmatic" attitude to blood donation reached 76.8%, and biobanking awareness 89.9%. The latter was significantly higher among women. Monozygotic twins were more concordant than dizygotic twins for the "pragmatic" attitude towards blood/DNA donation for research.</p> <p>Conclusion</p> <p>Level of understanding of aims and methods of a specific research project seems to vary in relation to modalities of approaching research; most of the twins are well aware of having been asked to donate blood for biobanking activities, and seem to be motivated by a "pragmatic" attitude to blood/DNA donation. Genetic influences on this attitude were suggested. The framing of interests and concerns of healthy participants to genetic-epidemiological studies should be further pursued, since research, particularly for "common diseases", is increasingly relying on population surveys and biobanking.</p

P4 Medicine versus Hippocrates

Hippocrates was the first to raise awareness of medicine as a science. He asserted the body being a unified whole and emphasized the importance of preventive and predictive medicine, spurring physicians to foster patient collaboration. Recent achievements today have permitted a new approach - ‛P4 medicine’ -  Predictive, Preventive, Personalized and Participatory – with the aim of depicting an individual’s health history and molecular profile in determining the best medical intervention in maintaining or restoring wellbeing. This report highlights the link between Hippocrates and P4 Medicine. Moreover, it will discuss how P4 Medicine may help to refine the knowledge of Rare Diseases and define new procedures for faster diagnosis and better therapies. Additionally, it will reveal how Patient advocacy groups and the management of Rare Disease Registries already echo the P4 premises and purposes, underlining the social impact of the new diagnostic and therapeutic protocols

Human Optimal Functioning: The Genetics of Positive Orientation Towards Self, Life, and the Future

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Femoral artery ultrasound examination: a new role in predicting cardiovascular risk

We compared intima-media thickness (IMT) and the prevalence of plaques in the common carotid artery (CCA) and common femoral artery (CFA) in apparently healthy participants. This multicenter study included 322 participants (59.9% female; age 20-78 years, mean 52.1 ± 15.3 years) who underwent Echo-color Doppler examination of the CCA and CFA bilaterally. Prevalence and composition of plaque were recorded. A significant ( P &lt; .01) difference between mean CCA-IMT and mean CFA-IMT was detected (0.70 vs 0.73 mm). Plaque prevalence was significantly higher in the CFA compared to the CCA (40.7% vs 30.4%). Atherosclerotic plaques were found in both CFA and CCA in 46% of the cases, solely in CFA in 38%, and in CCA alone in 17%. The observed difference in plaque prevalence was even greater when only fibrolipid isolated plaques were considered (CFA 39.4% vs CCA 22.1%). In a healthy general population, atherosclerotic plaques were present in the CFA but not in the CCA in over one-third of the cases. Further studies must confirm whether ultrasonography of the CFA might be introduced in the screening protocols for cardiovascular risk assessment

Environmental effects on brain functional networks in a juvenile twin population

: The brain's intrinsic organization into large-scale functional networks, the resting state networks (RSN), shows complex inter-individual variability, consolidated during development. Nevertheless, the role of gene and environment on developmental brain functional connectivity (FC) remains largely unknown. Twin design represents an optimal platform to shed light on these effects acting on RSN characteristics. In this study, we applied statistical twin methods to resting-state functional magnetic resonance imaging (rs-fMRI) scans from 50 young twin pairs (aged 10-30&nbsp;years) to preliminarily explore developmental determinants of brain FC. Multi-scale FC features were extracted and tested for applicability of classical ACE and ADE twin designs. Epistatic genetic effects were also assessed. In our sample, genetic and environmental effects on the brain functional connections largely varied between brain regions and FC features, showing good consistency at multiple spatial scales. Although we found selective contributions of common environment on temporo-occipital connections and of genetics on frontotemporal connections, the unique environment showed a predominant effect on FC link- and node-level features. Despite the lack of accurate genetic modeling, our preliminary results showed complex relationships between genes, environment, and functional brain connections during development. A predominant role of the unique environment on multi-scale RSN characteristics was suggested, which needs replications on independent samples. Future investigations should especially focus on nonadditive genetic effects, which remain largely unexplored

The Italian Twin Registry: An Update at 18 Years From Its Inception

AbstractThe Italian Twin Registry (ITR), established in 2001, is a population-based registry of voluntary twins. To date, it consists of approximately 29,000 twins who gave their consent to participate in the studies proposed by the ITR research group. The database comprises 11,500 monozygotic and 16,700 dizygotic twins resident throughout the country and belonging to a wide age range (from 0 to 95 years, mean 36.8 years). This article provides an overview of the recruitment strategies along with the major phenotypes investigated during an 18 years' research period. Over the years, several self-reported questionnaire data were collected, together with saliva/blood samples and measurements taken during in-person interviews or outpatient clinical examinations. Mental and behavioral phenotypes as well as atherosclerotic traits were studied in depth across different age groups. A birth cohort of twins was established and followed up. Novel research hypotheses are also being tested in ongoing projects. The ITR is involved in international studies in collaboration with other twin registries and represents a valuable resource for national and international research initiatives regarding a broad spectrum of health-related characteristics

Adolescents self-reported sleep quality and emotional regulation: a discordant twin study

Aim. This study explores the association between sleep quality and emotional regulation, and investigates the genetic and environmental bases of this association. Methods. Three-hundred-eighty-two adolescent twins, from the Italian Twin Registry, and their parents filled the Youth Self-Report and Child Behavior Checklist questionnaires, from which the construct of Effortful Control (EC) was derived as a measure of emotional regulation. Twins were identified as “good” or “non-good” sleepers based on answers to the Sleep Disorders Questionnaire. EC levels were compared between samesex sleep discordant twins.Results. A significant association was detected between EC scores and sleep quality. When controlling for shared (fetal or early life) environmental factors and genetic background in the discordant twin analysis, this association weakened in dizygotic twins and disappeared in monozygotic twins.Conclusion. Results support the association between sleep quality and EC in adolescence; furthermore, they suggest that sleep quality and emotional regulation may depend on common genetic or environmental factors.

Heritability of the dimensions, compliance and distensibility of the human internal jugular vein wall

The elasticity of the internal jugular vein (IJV) is a major determinant of cerebral venous drainage and right atrium venous return. However, the level of genetic determination of IJV dimensions, compliance and distensibility has not been studied yet. 170 adult Caucasian twins (43 monozygotic [MZ] and 42 dizygotic [DZ] pairs) were involved from the Italian twin registry. Anteroposterior and mediolateral diameters of the IJV were measured bilaterally by ultrasonography. Measurements were made both in the sitting and supine positions, with or without Valsalva maneuver. Univariate quantitative genetic modeling was performed. Genetic factors are responsible for 30–70% of the measured properties of IJV at higher venous pressure even after adjustment for age and gender. The highest level of inheritance was found in the supine position regarding compliance (62%) and venous diameter during Valsalva (69%). Environmental and measurement-related factors instead are more important in the sitting position, when the venous pressure is low and the venous lumen is almost collapsed. The range of capacity changes between the lowest and highest intraluminal venous pressure (full distension range) are mainly determined by genetic factors (58%). Our study has shown substantial heritability of IJV biomechanics at higher venous pressures even after adjustment for age and gender. These findings yield an important insight to what degree the geometric and elastic properties of the vascular wall are formed by genetic and by environmental factors in humans.https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5862397

Genetic and environmental factors on heart rate, mean arterial pressure and carotid intima–media thickness: A longitudinal twin study

Background: Heart rate (HR), mean arterial pressure (MAP) and carotid intima–media thickness (cIMT) are moderately heritable cardiovascular traits, but the environmental effects on the longitudinal change of their heritability have never been investigated. Methods: 368 Italian and Hungarian twins (107 monozygotic, 77 dizygotic) underwent oscillometric measurement and B-mode sonography of bilateral carotid arteries in 2009/2010 and 2014. Within- -individual/cross-study wave, cross-twin/within-study wave and cross-twin/cross-study wave correlations were estimated, and bivariate Cholesky models were fitted to decompose the total variance at each wave and covariance between study waves into additive genetic, shared and unique environmental components. Results: For each trait, a moderate longitudinal stability was observed, with within-individual/crosswave correlations of 0.42 (95% CI: 0.33–0.51) for HR, 0.34 (95% CI: 0.24–0.43) for MAP, and 0.23 (95% CI: 0.12–0.33) for cIMT. Cross-twin/cross-wave correlations in monozygotic pairs were all significant and substantially higher than the corresponding dizygotic correlations. Genetic continuity was the main source of longitudinal stability, with across-time genetic correlations of 0.52 (95% CI: 0.29–0.71) for HR, 0.56 (95% CI: 0.31–0.81) for MAP, and 0.36 (95% CI: 0.07–0.64) for cIMT. Overlapping genetic factors explained respectively 57%, 77%, and 68% of the longitudinal covariance of the HR, MAP and cIMT traits. Conclusions: Genetic factors have a substantial role in the longitudinal change of HR, MAP and cIMT; however, the influence of unique environmental factors remains relevant. Further studies should better elucidate whether epigenetic mechanisms have a role in influencing the stability of the investigated traits over time