Le cycle Rapkine et la mission Rapkine : le développement de la recherche médicale en France

Doris T. Zallen: The Rapkine cycle and the mission Rapkine: promoting medical research in France. It is not always possible to predict from which sources will corne the influences that later prove to be significant in developing new types of research agendas or setting new research policies into motion. One such unanticipated influence on medical research emerged from the ideas and efforts of Louis Rapkine, a biologist and naturalized French citizen. Rapkine is an especially unusual case. He was an intellectual emigre who fled from his medical studies to devote his life to carrying out basic biological investigations, and he preferred to work away from the medical establishment throughout most of his professional life. Despite this, Rapkine managed to make noteworthy contributions to the conduct of medical research in general and to the organization and operation of the French medical research apparatus in particular.Résumé. Il n'est pas toujours facile de déceler ce qui détermine un nouveau programme de recherche ou la mise en œuvre d'une politique scientifique. L'une de ces influences imprévues sur la recherche médicale est celle issue des idées et des travaux de Louis Rapkine, un biologiste français d'origine russo-canadienne. Etudiant en médecine, il abandonne ses études pour se consacrer à la recherche biologique fondamentale et, bien qu'éloigné de la médecine, il lui apportera une contribution scientifique notable et exercera une influence sur l'organisation de la recherche médicale en France.Doris T. Zallen : El ciclo Rapkine y la mision Rapkine, el desarrollo de la investigación medica en Francia. No siempre es fácil descubrir qué es lo que détermina un nuevo programa de investigación o la puesta en marcha de una política científica. Una de las influencias imprevistas sobre la investigación médica proviene de las ideas y de los trabajos de Louis Rapkine, un biólogo francés de origen ruso-canadiense. Siendo estudiante de medicina, abandona sus estudios para dedicarse a la investigación de la biología fundamental. A pesar de haberse alejado de la medicina, le aportó a ésta una notable contribución, proporcionando asimismo una série de ideas sobre la organización de la investigación médica en Francia.Zallen Doris T. Le cycle Rapkine et la mission Rapkine : le développement de la recherche médicale en France. In: Sciences sociales et santé. Volume 10, n°4, 1992. Contributions à l'histoire de la recherche médicale en France au XXe siècle, sous la direction de Martine Bungener et Jean-François Picard. pp. 11-23

Developing a Patient-Facing Report for Delivering Results After Whole Genome Sequencing

Background/Aims: Genome sequencing is emerging into clinical practice, raising a number of issues for delivery systems. One question is how genomic results can be made available wherever the patient receives care. The purpose of this research is to develop a patient-facing genomic laboratory report with advanced functionality including point-of-care education and clinical decision support. Report development utilized providers and parents of affected patients to provide feedback on the desired report elements to maximize usability. Methods: The research team, including a patient investigator and experts in patient engagement and communication, developed a draft report. Study participants were parents of children with undiagnosed cognitive disability undergoing genome sequencing as part of a larger clinical research study. Semistructured interviews were conducted to elicit prior experience with genetic test results and feedback about the draft report. Based on feedback, subsequent focus groups were conducted to elicit comments on specific report elements presenting inheritance and prognostic information. Recordings of interviews and focus groups were transcribed and analyzed using the conceptual framework of existential phenomenology, which favors the interpretation of meaning through subjective experiences. Results: Participants endorsed the importance of having a report created for patients and family. In particular, they noted desire to read and re-read the report and to have a record of what was discussed. The draft report was found to be informative and written at an appropriate level. Focus groups reviewed and ranked four different options for presenting prognostic information. Important themes for this specific information were seeing how the condition may change over time and information on support and additional action steps to take. Discussion: Participants value a report created for them. The interview and focus group participants are informing the creation of a report that will be used in the comparative effectiveness portion of the larger project to provide actual results of whole genome sequencing

Atlas der Alpenflora / Lappländ Spitzkiel

Magasság: 2000-2500 M.Virágzás: Juli-August.Előfordulási hely: Schweiz, Südtirol, Salzburg u. Kärnten, trockene Stelle

Cost-effectiveness of risk-stratified colorectal cancer screening based on polygenic risk: Current status and future potential

Background: Although uniform colonoscopy screening reduces colorectal cancer (CRC) mortality, risk-based screening may be more efficient. We investigated whether CRC screening based on polygenic risk is a cost-effective alternative to current uniform screening, and if not, under what conditions it would be. Methods: The MISCAN-Colon model was used to simulate a hypothetical cohort of US 40-year-olds. Uniform screening was modeled as colonoscopy screening at ages 50, 60, and 70 years. For risk-stratified screening, individuals underwent polygenic testing with current and potential future discriminatory performance (area under the receiver-operating curve [AUC] of 0.60 and 0.65-0.80, respectively). Polygenic testing results were used to create risk groups, for which colonoscopy screening was optimized by varying the start age (40-60 years), end age (70-85 years), and interval (1-20 years). Results: With current discriminatory performance, optimal screening ranged from once-only colonoscopy at age 60 years for the lowest-risk group to six colonoscopies at ages 40-80 years for the highest-risk group. While maintaining the same health benefits, risk-stratified screening increased costs by $59 per person. Risk-stratified screening could become cost-effective if the AUC value would increase beyond 0.65, the price per polygenic test would drop to less than$141, or risk-stratified screening would lead to a 5% increase in screening participation. Conclusions: Currently, CRC screening based on polygenic risk is unlikely to be cost-effective compared with uniform screening. This is expected to change with a greater than 0.05 increase in AUC value, a greater than 30% reduction in polygenic testing costs, or a greater than 5% increase in adherence with screening

The Advisory Group on Risk Evidence Education for Dementia: Multidisciplinary and Open to All.

The brain changes of Alzheimer's disease and other degenerative dementias begin long before cognitive dysfunction develops, and in people with subtle cognitive complaints, clinicians often struggle to predict who will develop dementia. The public increasingly sees benefits to accessing dementia risk evidence (DRE) such as biomarkers, predictive algorithms, and genetic information, particularly as this information moves from research to demonstrated usefulness in guiding diagnosis and clinical management. For example, the knowledge that one has high levels of amyloid in the brain may lead one to seek amyloid reducing medications, plan for disability, or engage in health promoting behaviors to fight cognitive decline. Researchers often hesitate to share DRE data, either because they are insufficiently validated or reliable for use in individuals, or there are concerns about assuring responsible use and ensuring adequate understanding of potential problems when one's biomarker status is known. Concerns include warning people receiving DRE about situations in which they might be compelled to disclose their risk status potentially leading to discrimination or stigma. The Advisory Group on Risk Evidence Education for Dementia (AGREEDementia) welcomes all concerned with how best to share and use DRE. Supporting understanding in clinicians, stakeholders, and people with or at risk for dementia and clearly delineating risks, benefits, and gaps in knowledge is vital. This brief overview describes elements that made this group effective as a model for other health conditions where there is interest in unfettered collaboration to discuss diagnostic uncertainty and the appropriate use and communication of health-related risk information