La bioética en el época del ‘big data’: la salud y más allá

La ciència del ‘big data’ (o dades massives) comporta un enorme potencial per a la recerca biomèdica, i promet ocasionar una gran transformació en l’àmbit de la salut i l'assistència mèdica. Al mateix temps, l'ús de dades de salut en recerca presenta diversos reptes ètics. En aquest article, analitzaré els aspectes ètics de l'arribada del ‘big data’ a l'àmbit de la salut. Encara que el discurs públic i regulador s'ha focalitzat principalment en l'ús de les dades personals, bregar amb els nous desafiaments que comporten la irrupció de les dades massives requereix enfocaments alternatius a l'ètica de la recerca, com ara el model del “contracte social”. A més, cal pensar més enllà de l'ús de dades per a recerques en salut i tenir en compte les conseqüències socials de l'epistemologia i la pràctica del ‘big data’ i les implicacions morals de la ‘datificació’ d’allò que és humà.‘Big data’ and data-intensive research approaches are rapidly gaining momentum in health and biomedical research, with potential to transform health at all levels from personal to public. The use of ‘big data’ for health research, however, raises a number of ethical challenges. In this paper I discuss ethical aspects of the advent of big data in health. I argue that although public discourse has focused on immediate concerns relating to use of individuals’ information, ‘big health data’ requires us to explore alternative conceptual approaches to research ethics, including the ‘social contract’ model. Further, we need to think beyond health research uses of data to the social consequences of big data epistemology and practice, and the moral implications of ‘datafying’ the human.La ciencia de ‘big data’ (o datos masivos) lleva mucho potencial para la investigación biomédica, y promete una transformación en la salud y la asistencia médica. Al mismo tiempo, el uso de datos de salud en investigación presenta varios retos éticos. En este artículo, exploraré aspectos éticos de la llegada del ‘big data’ al ámbito de la salud. Aunque el discurso público y regulatorio se ha focalizado mucho en el uso de datos del individuo, lidiar con los nuevos desafíos de datos masivos requiere considerar enfoques alternativos a la ética de la investigación, tal como el modelo del “contrato social”. Hay que pensar más allá del uso de datos para investigaciones en salud y contemplar las consecuencias sociales de la epistemología y la práctica de ‘big data’ y las implicancias morales de la ‘datificación’ del humano

What's in a Name? The Politics of ‘Precision Medicine’

The authors acknowledge the support of the Wellcome Trust in funding the Seed Award “Patienthood and Participation in the Digital Era” (grant 201652/Z/16/Z); research on this project contributed to the writing of this article. The authors would also like to acknowledge the stimulus of the H2020 SysmedIBD project (contract no 305564) in developing ideas that contributed to this work.Peer reviewe

Key emerging issues in frontotemporal dementia.

Frontotemporal dementia (FTD) encompasses the syndromes of behavioural variant FTD (bvFTD) and primary progressive aphasia (PPA) and refers to those neurodegenerative diseases characterised by predominant pathological involvement of the frontal and temporal lobes. Recent years have witnessed major advances in the clinical characterisation of FTD, reflected in the publication of updated diagnostic criteria for bvFTD and PPA, and the discovery of new pathogenic mutations has added to the understanding of genotype-phenotype interactions and of disease mechanisms. Emerging results from longitudinal studies of familial FTD show that imaging and cognitive changes occur years before symptom onset and such studies may yield biomarkers of early disease that in turn will facilitate earlier diagnosis. The hope and (guarded) expectation is that these advances may together herald the beginning of the end of the chapter in which FTD is considered an inexorably progressive and untreatable condition.Dr Chan is funded by the Cambridge NIHR Biomedical Research Centre and receives grant income from the UK Medical Research Council, Technology Strategy Board and the Cambridge Isaac Newton Trust.This is the author accepted manuscript. The final version is available from Springer via http://dx.doi.org/10.1007/s00415-015-7880-

Patienthood and participation in the digital era

Funding: The authors would like to acknowledge the support of the Wellcome Trust in funding the Seed Award ‘Patienthood and Participation in the Digital Era’ (grant number 201652/Z/16/Z); research on this project contributed to the writing of this paper. The paper is also informed by further research supported by the Wellcome Trust (grant numbers: 104831/Z/14/Z (SCB); 106612/Z/14/Z (MP); 209519/Z/17/Z (SCB, SC, MP)).Peer reviewe

A computer-assisted motivational social network intervention to reduce alcohol, drug and HIV risk behaviors among Housing First residents.

BackgroundIndividuals transitioning from homelessness to housing face challenges to reducing alcohol, drug and HIV risk behaviors. To aid in this transition, this study developed and will test a computer-assisted intervention that delivers personalized social network feedback by an intervention facilitator trained in motivational interviewing (MI). The intervention goal is to enhance motivation to reduce high risk alcohol and other drug (AOD) use and reduce HIV risk behaviors.Methods/designIn this Stage 1b pilot trial, 60 individuals that are transitioning from homelessness to housing will be randomly assigned to the intervention or control condition. The intervention condition consists of four biweekly social network sessions conducted using MI. AOD use and HIV risk behaviors will be monitored prior to and immediately following the intervention and compared to control participants' behaviors to explore whether the intervention was associated with any systematic changes in AOD use or HIV risk behaviors.DiscussionSocial network health interventions are an innovative approach for reducing future AOD use and HIV risk problems, but little is known about their feasibility, acceptability, and efficacy. The current study develops and pilot-tests a computer-assisted intervention that incorporates social network visualizations and MI techniques to reduce high risk AOD use and HIV behaviors among the formerly homeless. CLINICALTRIALS.Gov identifierNCT02140359

Shp2 function in hematopoietic stem cell biology and leukemogenesis

PURPOSE OF REVIEW: The protein tyrosine phosphatase Shp2 is encoded by PTPN11 and positively regulates physiologic hematopoiesis. Mutations of PTPN11 cause the congenital disorder Noonan syndrome and pathologically promote human leukemias. Given the high frequency of PTPN11 mutations in human disease, several animal models have been generated to investigate Shp2 in hematopoietic stem cell (HSC) function and leukemic transformation. RECENT FINDINGS: Two independent animal models bearing knockout of Shp2 in hematopoietic tissues clearly demonstrate the necessity of Shp2 in HSC repopulating capacity. Reduced HSC quiescence and increased apoptosis accounts for diminished HSC function in the absence of Shp2. The germline mutation Shp2D61G enhances HSC activity and induces myeloproliferative disease (MPD) in vivo by HSC transformation. The somatic mutation Shp2D61Y produces MPD in vivo but fails to induce acute leukemia, whereas somatic Shp2E76K produces MPD in vivo that transforms into full-blown leukemia. HSCs expressing Shp2D61Y do not generate MPD in recipient animals upon transplantation, whereas Shp2E76K-expressing HSCs yield MPD as well as acute leukemia in recipient animals. The mechanisms underlying the unique functions of Shp2D61Y and Shp2E76K in HSC transformation and leukemogenesis continue to be under investigation. SUMMARY: Further understanding of the physiologic and pathologic role of Shp2 in hematopoiesis and leukemogenesis, respectively, will yield information needed to develop therapeutic strategies targeted to Shp2 in human disease