Suchergebnisse

<b><i>Background:</i></b> In this study, we examined how biobank study participants, who were found to have long QT syndrome (LQTS), a potentially life-threatening but treatable cardiac arrhythmia condition, experienced the process of disclosure of unexpected results and referral to health care. <b><i>Methods:</i></b> All 27 subjects with a LQTS mutation finding were asked to complete a questionnaire. Four participants did not uptake the re-testing and 5 others did not respond to the questionnaire. We received 17 questionnaires from 6 males and 11 females, aged 46-82; 5 of them were also willing to participate in qualitative interviews. <b><i>Results:</i></b> Of the respondents, 16/17 had experienced the process of receiving the results as positive and useful, especially if they had had symptoms. One respondent experienced the process negatively due to concerns related to informing her children. All respondents felt that genetic results should be reported back to the participants, while 2 indicated that this should occur only in the case of treatable conditions. Respondents had informed all of their children about the genetic condition, except 2 minors. <b><i>Conclusions:</i></b> The respondents from a population biobank study who were informed about an unexpected genetic finding evaluated this process as mainly positive. They considered that delivering genetic information about a life-threatening but actionable condition has more beneficial than adverse consequences. The feedback policy for biobanks should include how and who is informed, advise treatment or care pathways for actionable findings, and it should also include suitable options for those who do not want to know about such findings.

ABSTRACT: This work provides an overview of the FRACTESUS project (Euratom work programme 2019-2020). The European Union has defined clear short and long-term objectives to achieve its energy transition towards sustainable energy and a climate neutral economy by 2050. The success of this transition relies on the combination of energy efficiency and low carbon energy in all sectors of the economy. In all electricity mix scenarios up to 2050, one needs to rely on a combination of existing nuclear power plants, long-term operation, new nuclear build and future nuclear systems. The safety and operability of nuclear systems heavily rely on strategies where the integrity of structural materials plays an essential role. Due to material availability and/or irradiation constraints, the use of small sized specimens to obtain reliable measurements of the fracture resistance is needed by the nuclear industry to comply with safety directives. Measurement of fracture toughness using small-sized specimens has already been shown to be possible in both unirradiated and irradiated conditions. However, significant work is still required to achieve European regulatory acceptance. The goal of FRACTESUS is to join efforts to establish the foundation of small specimen fracture toughness validation and demonstration to address the different national regulatory authority concerns. ; This project is receiving funding from the Euratom work programme 2019-2020. The contributions of all partners in the FRACTESUS project are also acknowledged