F4‐02‐04: The Alzheimer’s Prevention Initiative (API) Program: Genetic Testing and Disclosure Strategies

Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/152610/1/alzjjalz201606595.pd

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

The role of the Vilmorin company in the promotion and Diffusion of the experimental science of heredity in France, 1840-1920

International audienceInstitutions in the commercial sector, especially those marketing seeds for agricultural use, have long had an interest in understanding heredity. Much of what we know of this relationship concerns the period since the rediscovery of Mendel's work in 1900. Little is known of the nature of this relationship in the nineteenth century. In this paper, we will focus on the role played by one company - the Vilmorin Company in France - in the promotion of an experimental science of heredity from 1840 to 1920

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