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Genetic predisposition is an endogenous risk, of genetic origin, of contracting a disease or of transmitting it to one's children. The realization of the risk is uncertain: it' is subject to exogenous catalyst factors.Since 1994, conditions have been set by the legislator for the detection of genetic predisposition.First of all, the condition of the consent of the person concerned aims to protect him against the intrusions of third parties into his genetic integrity.Then, the condition of medical or research purpose of the genetic test tends to protect the person against himself so that he cannot authorize genetic tests which would not satisfy a legitimate interest.Has the law thus made it possible to channel the social effects of the detection of a genetic predisposition?In the field of employment and insurance, the selection of people by their genetic predisposition is, in principle, prohibited. It may, exceptionally, be authorized under labor law, with the aim of preventing a genetic disease the onset of which would result from the person's exposure to environmental factors of the work. It will, in practice, be carried out by insurers who, when the genetic predisposition constitutes an aggravated risk jeopardizing the balance of the insurance transaction, will bypass the legal prohibition on questioning a person on the results of an insurance transaction. genetic study.The responsibility of third parties in realizing the risk of genetic predisposition requires a distinction according to the nature of the predisposition. The genetic predisposition to the disease does not allow the person who caused the disease to invoke the predisposition to limit his liability. The genetic predisposition to the transmission of the disease to the offspring imposes on the third party, whose fault did not make it possible to prevent the birth of a child suffering from the disease, to repair the damage of the parents and, sometimes, that of the child. ; RésuméLa prédisposition génétique est un risque endogène, d'origine ...

Genetic predisposition is an endogenous risk, of genetic origin, of contracting a disease or of transmitting it to one's children. The realization of the risk is uncertain: it' is subject to exogenous catalyst factors.Since 1994, conditions have been set by the legislator for the detection of genetic predisposition.First of all, the condition of the consent of the person concerned aims to protect him against the intrusions of third parties into his genetic integrity.Then, the condition of medical or research purpose of the genetic test tends to protect the person against himself so that he cannot authorize genetic tests which would not satisfy a legitimate interest.Has the law thus made it possible to channel the social effects of the detection of a genetic predisposition?In the field of employment and insurance, the selection of people by their genetic predisposition is, in principle, prohibited. It may, exceptionally, be authorized under labor law, with the aim of preventing a genetic disease the onset of which would result from the person's exposure to environmental factors of the work. It will, in practice, be carried out by insurers who, when the genetic predisposition constitutes an aggravated risk jeopardizing the balance of the insurance transaction, will bypass the legal prohibition on questioning a person on the results of an insurance transaction. genetic study.The responsibility of third parties in realizing the risk of genetic predisposition requires a distinction according to the nature of the predisposition. The genetic predisposition to the disease does not allow the person who caused the disease to invoke the predisposition to limit his liability. The genetic predisposition to the transmission of the disease to the offspring imposes on the third party, whose fault did not make it possible to prevent the birth of a child suffering from the disease, to repair the damage of the parents and, sometimes, that of the child. ; RésuméLa prédisposition génétique est un risque endogène, d'origine ...

Genetic predisposition is an endogenous risk, of genetic origin, of contracting a disease or of transmitting it to one's children. The realization of the risk is uncertain: it' is subject to exogenous catalyst factors.Since 1994, conditions have been set by the legislator for the detection of genetic predisposition.First of all, the condition of the consent of the person concerned aims to protect him against the intrusions of third parties into his genetic integrity.Then, the condition of medical or research purpose of the genetic test tends to protect the person against himself so that he cannot authorize genetic tests which would not satisfy a legitimate interest.Has the law thus made it possible to channel the social effects of the detection of a genetic predisposition?In the field of employment and insurance, the selection of people by their genetic predisposition is, in principle, prohibited. It may, exceptionally, be authorized under labor law, with the aim of preventing a genetic disease the onset of which would result from the person's exposure to environmental factors of the work. It will, in practice, be carried out by insurers who, when the genetic predisposition constitutes an aggravated risk jeopardizing the balance of the insurance transaction, will bypass the legal prohibition on questioning a person on the results of an insurance transaction. genetic study.The responsibility of third parties in realizing the risk of genetic predisposition requires a distinction according to the nature of the predisposition. The genetic predisposition to the disease does not allow the person who caused the disease to invoke the predisposition to limit his liability. The genetic predisposition to the transmission of the disease to the offspring imposes on the third party, whose fault did not make it possible to prevent the birth of a child suffering from the disease, to repair the damage of the parents and, sometimes, that of the child. ; RésuméLa prédisposition génétique est un risque endogène, d'origine ...

ALFA Study.-- This article belongs to the Special Issue Genetic Research of Neurodegenerative and Psychiatric Disorders. ; This study investigated whether genetic factors involved in Alzheimer's disease (AD) are associated with enlargement of Perivascular Spaces (ePVS) in the brain. A total of 680 participants with T2-weighted MRI scans and genetic information were acquired from the ALFA study. ePVS in the basal ganglia (BG) and the centrum semiovale (CS) were assessed based on a validated visual rating scale. We used univariate and multivariate logistic regression models to investigate associations between ePVS in BG and CS with BIN1-rs744373, as well as APOE genotypes. We found a significant association of the BIN1-rs744373 polymorphism in the CS subscale (p value = 0.019; OR = 2.564), suggesting that G allele carriers have an increased risk of ePVS in comparison with A allele carriers. In stratified analysis by APOE-ε4 status (carriers vs. non-carriers), these results remained significant only for ε4 carriers (p value = 0.011; OR = 1.429). To our knowledge, the present study is the first suggesting that genetic predisposition for AD is associated with ePVS in CS. These findings provide evidence that underlying biological processes affecting AD may influence CS-ePVS. ; The project leading to these results has received funding from "la Caixa" Foundation (ID 100010434), under agreement LCF/PR/GN17/50300004, the Alzheimer's Association and an international anonymous charity foundation through the TriBEKa Imaging Platform project (TriBEKa-17-519007) and the Health Department of the Catalan Government (Health Research and Innovation Strategic Plan (PERIS) 2016-2020 grant# SLT002/16/00201). Additional support has been received from the Universities and Research Secretariat, Ministry of Business and Knowledge of the Catalan Government under the grant no. 2017-SGR-892. All CRG authors acknowledge the support of the Spanish Ministry of Science, Innovation and Universities to the EMBL partnership, the Centro de Excelencia Severo Ochoa and the CERCA Programme / Generalitat de Catalunya. JDG is supported by the Spanish Ministry of Science and Innovation (RYC-2013-13054). NV-T is funded by a postdoctoral grant, Juan de la Cierva Programme (FJC2018-038085-I), Ministry of Science and Innovation—Spanish State Research Agency. ; Peer reviewed

AbstractThe recruitment of participants for research studies may be subject to bias. The Prospective Imaging Study of Ageing (PISA) aims to characterize the phenotype and natural history of healthy adult Australians at high future risk of Alzheimer's disease (AD). Participants approached to take part in PISA were selected from existing cohort studies with available genomewide genetic data for both successfully and unsuccessfully recruited participants, allowing us to investigate the genetic contribution to voluntary recruitment, including the genetic predisposition to AD. We use a polygenic risk score (PRS) approach to test to what extent the genetic risk for AD, and related risk factors predict participation in PISA. We did not identify a significant association of genetic risk for AD with study participation, but we did identify significant associations with PRS for key causal risk factors for AD, IQ, household income and years of education. We also found that older and female participants were more likely to take part in the study. Our findings highlight the importance of considering bias in key risk factors for AD in the recruitment of individuals for cohort studies.

Since the advent of the Human Genome Project in 1989, the ethical. legal, and social implications inherent in future genetic science and its applications have worried researchers and scholars in law and ethics. Concern that the results of genetic testing might be used to discriminate against particular individuals and groups of individuals has been paramount, prompting calls for specific legislation to protect against genetic discrimination. Against this backdrop we sought to investigate instances of genetic discrimination in Canadian legal decisions. We searched Canadian court and administrative tribunal decisions, using the key words "genetic predisposition" and its cognates, and found none that took up the issue of genetic discrimination. However, in 468 decisions, "genetic predisposition" was used by courts and tribunals when describing the causal origins of health related conditions. Genetic predisposition was cited with respect to numerous health conditions, and in various areas of law, in particular criminal, family, workers' compensation, and tort. In several criminal law decisions, genetic predisposition served to explain the origin of a mental health condition in addressing the issue of criminal responsibility. The predominant use in family law was in describing a child's health condition in crown wardship and youth protection proceedings. In workers' compensation and tort, genetic predisposition was used to argue whether the claimant's condition was inherited rather than related to the workplace or the negligence of the defendant. Genetic predisposition, when used to argue the issue of disease causation on a balance of probabilities, reflects "geneticization": the tendency to describe the underlying basis of health and disease as genetic. Geneticization, like genetic discrimination, can be problematic. Specifically, both may exaggerate the extent to which genetic information is exceptional and determinative of health and disease outcomes. Also, geneticization. like genetic discrimination. may marginalize people on a perceived genetic basis.

Genetic screening for susceptibility to common diseases, such as the common cancers, cardiovascular disease, and diabetes, may soon be technically feasible. Commercial interests should not be allowed to introduce such screening before proper evaluation or without adequate counselling and support. The evaluation of such testing should include psychosocial and medical outcomes and outcomes for those given low risks as well as high risks. These tests may distract attention away from environmental factors contributing to disease, for which social and political measures may be more appropriate than individualised susceptibility screening and lifestyle modification.

Genetic blood diseases are frequent in Bahrain as in all Middle Eastern countries. Previous neonatal screening in 1984–1985 showed that the birth prevalence of sickle cell disease (SCD) was 2.1%, of sickle cell trait 11% and of glucose-6-phosphate dehydrogenase (G6PD) deficiency 25%. The Ministry of Health recognized the importance of controlling these diseases. In 1984, the first genetic clinic was established, which started the educational campaigns. Information booklets were prepared and distributed widely in schools and clubs in an attempt to increase awareness about these diseases among students and the public. In 1991, the Bahrain Hereditary Anemia Society was formed. In 1992, the Minister of Health formed a national committee for the prevention of genetic diseases in Bahrain. Screening of all pregnant women began, followed by newborn testing if the mother was found to be a carrier. In 1993, a premarital counseling (PMC) service was organized and in 1998, a student-screening project began. At this stage, we want to update the national birth prevalence figure by screening Bahraini newborns for these genetic diseases. This will help to design prevention programs and to measure the effect of health education on the previous birth prevalence figure. <i>Subjects and Methods:</i> A newborn screening study was conducted to determine the effects of this long-term campaign (16–18 years). Cord blood samples from 2,000 Bahraini newborns were tested for hemoglobinopathies and G6PD deficiency using HPLC. <i>Results:</i> 18 newborns were found to have SCD. The new birth prevalence figure for SCD in Bahrain is 0.9%, which indicates a 60% decline in the birth prevalence rate. <i>Conclusion:</i> With the continuation of education, awareness campaigns, screening of carriers and PMC, we expect the number of affected children born to be reduced tremendously over the next few years.

This work was funded by the European Union's Seventh Framework Programme through the Blueprint Consortium (grant agreement 282510), the International Cancer Genome Consortium (Chronic Lymphocytic Leukemia Genome consortium to E.C. and C.L.-O.), La Caixa Foundation (CLLEvolution-HE17–00221, to E.C. and C.L.-O.), the World Wide Cancer Research Foundation Grant No. 16–1285 (to J.I.M.-S.), the Spanish Ministerio de Economía y Competitividad (MINECO), Grant No. SAF2015-64885-R (to E.C.) and Grant No. PMP15/00007

Abstract
microRNAs (miRNAs) are a class of small RNAs (19-25 nucleotides in length) processed from double-stranded hairpin precursors. They negatively regulate gene expression in animals, by binding, with imperfect base pairing, to target sites in messenger RNAs (usually in 3' untranslated regions) thereby either reducing translational efficiency or determining transcript degradation. Considering that each miRNA can regulate, on average, the expression of approximately several hundred target genes, the miRNA apparatus can participate in the control of the gene expression of a large quota of mammalian transcriptomes and proteomes. As a consequence, miRNAs are expected to regulate various developmental and physiological processes, such as the development and function of many tissue and organs. Due to the strong impact of miRNAs on the biological processes, it is expected that mutations affecting miRNA function have a pathogenic role in human genetic diseases, similar to protein-coding genes. In this review, we provide an overview of the evidence available to date which support the pathogenic role of miRNAs in human genetic diseases. We will first describe the main types of mutation mechanisms affecting miRNA function that can result in human genetic disorders, namely: (1) mutations affecting miRNA sequences; (2) mutations in the recognition sites for miRNAs harboured in target mRNAs; and (3) mutations in genes that participate in the general processes of miRNA processing and function. Finally, we will also describe the results of recent studies, mostly based on animal models, indicating the phenotypic consequences of miRNA alterations on the function of several tissues and organs. These studies suggest that the spectrum of genetic diseases possibly caused by mutations in miRNAs is wide and is only starting to be unravelled.