Molecular autopsy in sudden cardiac death and its implication for families: discussion of the practical, legal and ethical aspects of the multidisciplinary collaboration.

Sudden cardiac death (SCD) is a major cause of premature death in young adults and children in developed countries. Standard forensic autopsy procedures are often unsuccessful in determining the cause of SCD. Post-mortem genetic testing, also called molecular autopsy, has revealed that a non-negligible number of these deaths are a result of inherited cardiac diseases, including arrhythmic disorders such as congenital long QT syndrome and Brugada syndrome. Due to the heritability of these diseases, the potential implications for living relatives must be taken into consideration. Advanced diagnostic analyses, genetic counselling, and interdisciplinary collaboration should be integral parts of clinical and forensic practice. In this article we present a multidisciplinary collaboration established in Lausanne, with the goal of properly informing families of these pathologies and their implications for surviving family members. In Switzerland, as in many other countries, legal guidelines for genetic testing do not address the use of molecular tools for post-mortem genetic analyses in forensic practice. In this article we present the standard practice guidelines established by our multidisciplinary team.

Cognitive and structural aspects of addiction: Relation between iris patterns, time perception, eyeblink rate, impulsivity and cigarette addiction

Objectif : Le but de ce travail est d'étudier les corrélations existantes entre les patterns de l'iris, la perception du temps et la fréquence de clignement des paupières (eye blink rate) et ceci en relation avec l'addiction à la cigarette. Méthodologie: Revue de la littérature existante. Expériences sur une cohorte d'au moins trente sujets fumeurs/non-fumeurs. Analyses statistiques. Résultats: Nos résultats confirment qu'il existe des relations entre l'impulsivité, les patterns d'iris, l'eye blink rate spontané et la perception du temps. Nous observons également que l'addiction à la cigarette et son niveau de dépendance ont une influence sur ces différentes mesures. En effet, les sujets fumeurs tendent à avoir une personnalité plus impulsive par rapport aux sujets contrôles. On remarque également une nette diminution de l'eye blink rate dans le groupe des fumeurs et une tendance à la sur-estimation du temps qui passe. Conclusion : Ce travail nous permet de mieux comprendre les différentes corrélations qui existent entre les différentes variables que nous avons mesurées (patterns d'iris, score d'impulsivité et eye blink rate) ainsi que leur relation à l'addiction à la cigarette. Dès lors qu'il est avéré que les fumeurs peuvent avoir une perception du temps altérée par rapport au groupe contrôle, il serait intéressant d'en étudier l'évolution sur le long terme (aggravation avec la durée du tabagisme actif) ainsi que les conséquences qui en découlent écologiquement au moyen d'études longitudinales et de terrain.

Retrospective research: What are the ethical and legal requirements?

Retrospective research is conducted on already available data and/or biologic material. Whether such research requires that patients specifically consent to the use of "their" data continues to stir controversy. From a legal and ethical point of view, it depends on several factors. The main criteria to be considered are whether the data or the sample is anonymous, whether the researcher is the one who collected it and whether the patient was told of the possible research use. In Switzerland, several laws delineate the procedure to be followed. The definition of "anonymous" is open to some interpretation. In addition, it is debatable whether consent waivers that are legally admissible for data extend to research involving human biological samples. In a few years, a new Swiss federal law on human research could clarify the regulatory landscape. Meanwhile, hospital-internal guidelines may impose stricter conditions than required by federal or cantonal law. Conversely, Swiss and European ethical texts may suggest greater flexibility and call for a looser interpretation of existing laws. The present article provides an overview of the issues for physicians, scientists, ethics committee members and policy makers involved in retrospective research in Switzerland. It aims at provoking more open discussions of the regulatory problems and possible future legal and ethical solutions.

Social freezing in Switzerland and worldwide--a blessing for women today?

This is a critical review of the medical, ethical, judicial and financial aspects of the so called "social freezing", the cryopreservation of a woman's oocytes for non-medical purposes. The possibility of storing the eggs of fertile women in order to prevent age-related fertility decline is being widely promoted by fertility centres and the lay press throughout the world. Research data has shown that social freezing should ideally be performed on women around 25 years of age in order to increase their chances of a future pregnancy. In reality, it is mostly performed after the age of 35. Unfortunately, social freezing is in general not a solution for the underlying societal problems to fit in with professionally active women and having children. It only delays the existing problems. Furthermore, it creates a lot of potential new problems. A great deal more should be undertaken to offer real solutions to the underlying societal problems which are in part: pre-school education, care in the event of childhood illness, and the many weeks of school holidays, acceptance of professionally active women having children, and more job offers with a workload <100%.). Furthermore, society should be informed about the decreasing chances of pregnancy with increasing maternal (and paternal) age as well as the increasing risks of miscarriage and obstetric/neonatal complications. Detailed information for woman considering social freezing is crucial. Every doctor, proposing social freezing to his patients, should be up to date with all these details. Follow-up studies on the outcome of these children are needed.