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African-Americans exhibit an excess risk for chronic and end-stage kidney disease compared to the non-African populations. Two APOL1 genetic variants were shown to account for the majority of this racial disparity in glomerulopathies and other non-diabetic kidney disease. The high-risk genotype has only been reported in populations with recent African ancestry (14 % in African-Americans and up to more than 30 % in West Africa). In less than 10 years, the community has accumulated extensive knowledge on APOL1 and its genetic variants, from their positive selection for resistance against African trypanosomes to potential molecular mechanisms of podocyte injury. Finally, APOL1 associations with kidney transplantation outcomes and with postdonation end-stage kidney disease in living donors have paved the way for a personalized medicine implementation of APOL1 genotyping.

In children and adolescents, psychotic disorders already represent one of the leading causes of disability-adjusted life years. During the past two decades, early detection of risk for psychosis has been intensively investigated, and in particular, predictive power for early signs of risk has been initiated and translated into clinical practice. In particular, the attenuated and transient positive symptoms of the ultra-high risk criteria, and the basic symptom criterion "cognitive disturbances", open promising routes to an indicated prevention and have recently been considered by the European Psychiatric Association (EPA) as diagnostic criteria of a psychosis-risk syndrome. The EPA recently provided evidence-based recommendations on the early detection of clinical high risk (CHR) for psychosis in patients with mental distress. In 2015, experts in the field of early detection conducted a meta-analysis reporting on studies examining conversion rates to psychosis in non-overlapping samples meeting at least one of the main CHR criteria: ultra-high risk (UHR) and/or basic symptoms criteria, examining the effects of potential moderators (different UHR criteria definitions, single UHR criteria and age) on conversion rates. In the 42 identified samples, comprising more than 4000 CHR patients who had been mainly identified by means of UHR criteria and/or the basic symptom criterion 'cognitive disturbances' (COGDIS), conversion rates showed considerable heterogeneity. While UHR and COGDIS criteria were related to comparable conversion rates until a 2-year follow-up, rates for COGDIS were significantly higher for follow-up periods beyond 2 years. Differences in onset and frequency requirements of symptomatic UHR criteria, or in their different consideration of functional decline, substance use and co-morbidity, did not seem to have an impact on conversion rates. The 'genetic risk and functional decline' UHR criterion was rarely met and only showed an insignificant pooled sample effect. However, age significantly affected UHR conversion rates with lower rates in children and adolescents. Although more research into potential sources of heterogeneity in conversion rates is needed to facilitate improvement of CHR criteria, six evidence-based recommendations for the early detection of psychosis were developed as a basis for the EPA guidance on early intervention in CHR states. The EPA guidance on early intervention aimed to provide evidence-based recommendations on early intervention in CHR states of psychosis, assessed according to the EPA guidance on early detection. The recommendations were also made by experts in the field of early intervention in psychoses and derived from a meta-analysis of current empirical evidence on the efficacy of psychological and pharmacological interventions in CHR samples. Eligible studies had to investigate conversion rate and/or functioning as a treatment outcome in CHR patients defined by the ultra-high risk and/or basic symptom criteria. In addition to analyses of treatment effects on conversion rate and functional outcome, age and type of intervention were examined as potential moderators. Based on data from 15 studies (n=1394), early intervention generally produced significantly reduced conversion rates at 6- to 48-month follow-up compared to control conditions. However, early intervention failed to achieve significantly greater functional improvements because both early intervention and control conditions produced similar positive effects. With regard to the type of intervention, both psychological and pharmacological interventions produced significant effects on conversion rates but not on functional outcome relative to the control conditions. Early intervention in youth samples was generally less effective than in predominantly adult samples. Seven evidence-based recommendations for early intervention in CHR samples have been formulated, although more studies are needed to investigate the specificity of treatment effects and potential age effects in order to tailor interventions to the individual treatment needs and risk status. Overall, age-related specificities and developmental transitions in the early detection and intervention in psychoses should be better accounted for in future research.

En cette ère de «nouvelle santé publique», les professionnels sont exhortés à détourner leur attention de l’individu afin de pouvoir mettre l’accent sur les déterminants sociaux de la santé. Un phénomène contraire s’opère dans le domaine des sciences biomédicales, où un mouvement vers la santé personnalisée permet d’envisager des soins préventifs et curatifs adaptés à chaque individu, en fonction de son profil de risque génétique. Bien qu’elles n’aient que partiellement fait leur entrée dans notre système de santé, ces avancées scientifiques risquent de changer significativement le visage de la prévention, et dans cette foulée, de susciter des débats de société importants. L'étude proposée vise à contribuer à une réflexion sur l'avenir d'une des fonctions essentielles de la santé publique en tentant de mieux comprendre comment le public perçoit la prévention basée sur le risque génétique. Ce projet de recherche qualitative consiste en l'analyse secondaire des échanges ayant eu lieu lors de quatre ateliers délibératifs auxquels ont participé des membres du public d'horizons divers, et durant lesquels ceux-ci ont débattu de la désirabilité d'une technologie préventive fictive, le «rectificateur cardiaque». La théorie de la structuration d'Anthony Giddens est utilisée comme cadre conceptuel guidant l’analyse des échanges. Celle-ci permet d’émettre les trois constats suivants: a- le « rectificateur cardiaque » est loin d’être interprété par tous les participants comme étant une intervention préventive; b- son utilisation est perçue comme étant légitime ou non dépendamment principalement des groupes de personnes qu’elle viserait; c- l’intervention proposée ne se pense pas hors contexte., In this era of «new public health», professionals are urged to shift their attention away from individuals and to pay greater attention to the social determinants of health. In the field of biomedical sciences, a movement in the opposite direction towards personalised health might allow for preventive and curative care tailored to each individual, according to their genetic risk profile. While scientific advances in the field of genomics have only begun to pave their way into our healthcare system, they carry the potential to change the face of prevention and give rise to important societal debates. This study’s aim is to contribute to a reflection on the future of one of the essential functions of public health by exploring public perceptions of prevention based on genetic risk. This qualitative research project consists of a secondary analysis of the content of exchanges which occurred between members of the public in the context of four deliberative workshops, during which they debated on the desirability of a fictive preventive technology, the «cardiac rectifier». Anthony Giddens’ theory of structuration is used as a conceptual framework to guide the analysis of the exchanges, which led to the following findings: a- the «cardiac rectifier» is far from being interpreted as a preventive intervention by every participant; b- its use is perceived as being legitimate or not on the basis of which group of individuals it would target; c- the proposed intervention cannot be thought of out of context.

Cet article développe un regard réflexif et rétrospectif sur les procédures de découverte dans l’analyse qualitative des données. Le cadre est une étude sur la gestion du risque génétique de cancer du sein/ovaire de la part de femmes avec la prédisposition à la maladie. À partir d’exemples d’analyse, sont identifiés et explicités les raisonnements qui sous-tendent et orientent la découverte. Cinq processus sont mis en exergue : l’observation surprenante, l’adoption d’un principe général de sens, la formulation d’hypothèses, le développement de nouvelles questions pour rechercher de nouveaux indices, la formulation d’énoncés plausibles. Ces processus ne sont pas séquentiels, mais s’entremêlent entre eux de manière typiquement abductive. This paper will look reflexively and retrospectively back on the discovery procedures in qualitative data analysis. Originating from a study on the management of genetic risk of breast/ovarian cancer from women with a predisposition to the disease, examples of analysis will be identified and explained as well as the reasoning that guides discovery. Five processes will be highlighted: the surprising observation, the adoption of a general principle of meaning, the formulation of hypotheses, the development of new questions in order to seek new clues, and the formulation of plausible statements. These processes are not sequential, but intermingled in a typically abductive way. De los datos a los índices. Sobre los procedimientos de los descubrimientos en el marco de una investigación sobre la gestión del riesgo genético del cáncerEste artículo es una mirada reflexiva y retrospectiva sobre los procedimientos de los descubrimientos en el análisis cualitativo de datos. El marco del estudio es la gestión del riesgo genético del cáncer del ovario y de mama en mujeres que presentan una disposición para esta enfermedad. A partir de ejemplos de análisis, se identifican y se hacen explícitos los razonamientos subyacentes que orientan un descubrimiento. Cinco procesos son expuestos: la observación sorprendente, la adopción de un principio de explicación, la formulación de una hipótesis, el desarrollo de nuevas cuestiones con el fin de detectar nuevos índices, la formulación de enunciados coherentes. Estos procesos no están ordenados en secuencias sino que se entrecruzan de manera típicamente abductiva.