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Genetics and ethics

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https://www.readbyqxmd.com/read/28720322/rodent-large-animal-and-non-human-primate-models-of-spinal-cord-injury
#1
REVIEW
Raffaele Nardone, Cristina Florea, Yvonne Höller, Francesco Brigo, Viviana Versace, Piergiorgio Lochner, Stefan Golaszewski, Eugen Trinka
In this narrative review we aimed to assess the usefulness of the different animal models in identifying injury mechanisms and developing therapies for humans suffering from spinal cord injury (SCI). Results obtained from rodent studies are useful but, due to the anatomical, molecular and functional differences, confirmation of these findings in large animals or non-human primates may lead to basic discoveries that cannot be made in rodent models and that are more useful for developing treatment strategies in humans...
June 21, 2017: Zoology: Analysis of Complex Systems, ZACS
https://www.readbyqxmd.com/read/28717658/targeting-breast-cancer-outcomes-what-about-the-primary-relatives
#2
Alison Johnston, Michael Sugrue
BACKGROUND: Up to 65% of newly diagnosed breast cancer patients had not been screened correctly before diagnosis resulting in increased stage of cancer at presentation. This study assessed whether their primary relatives are, in turn, assessed appropriately. METHODS: An ethically approved prospective study involving 274 primary relatives of women diagnosed with breast cancer, between 2009-2012, at a symptomatic breast unit in Ireland. Telephone interview established: demographics, menstrual history, family history verification, breast screening history...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28714147/communication-of-information-about-genetic-risks-putting-families-at-the-center
#3
Álvaro Mendes, Alison Metcalfe, Milena Paneque, Liliana Sousa, Angus J Clarke, Jorge Sequeiros
Genetic information is a family affair. With the expansion of genomic technologies, many new causal genes and variants have been established and the potential for molecular diagnoses increased, with implications not only for patients but also their relatives. The need for genetic counseling and intrafamilial circulation of information on genetic risks grew accordingly. Also, the amount and, particularly, the complexity of the information to convey multiplied. Sharing information about genetic risks with family members, however, has never been an easy matter and often becomes a source of personal and familial conflicts and distress...
July 16, 2017: Family Process
https://www.readbyqxmd.com/read/28710215/a-study-protocol-for-an-observational-cohort-investigating-cognitive-outcomes-and-wellness-in-survivors-of-critical-illness-the-cogwell-study
#4
M Elizabeth Wilcox, Andrew S Lim, Mary P McAndrews, Richard A Wennberg, Ruxandra L Pinto, Sandra E Black, Karolina D Walczak, Jan O Friedrich, Michael S Taglione, Gordon D Rubenfeld
INTRODUCTION: Up to 9 out of 10 intensive care unit (ICU) survivors will suffer some degree of cognitive impairment at hospital discharge and approximately half will have decrements that persist for years. The mechanisms for this newly acquired brain injury are poorly understood. The purpose of this study is to describe the prevalence of sleep abnormalities and their association with cognitive impairment, examine a well-known genetic risk factor for dementia (Apolipoprotein E ε4) that may allow for genetic risk stratification of ICU survivors at greatest risk of cognitive impairment and determine if electroencephalography (EEG) is an independent predictor of long-term cognitive impairment and possibly a candidate intermediate end point for future clinical trials...
July 13, 2017: BMJ Open
https://www.readbyqxmd.com/read/28703222/transparency-of-genetic-testing-services-for-health-wellness-and-lifestyle-analysis-of-online-prepurchase-information-for-uk-consumers
#5
Jacqueline A Hall, Rena Gertz, Joan Amato, Claudia Pagliari
The declining cost of DNA sequencing has been accompanied by a proliferation of companies selling 'direct-to-consumer genetic testing' (DTC-GT) services. Many of these are marketed online as tools for enabling citizens to make more informed decisions about their health, wellness and lifestyle. We assessed the 'information for consumers' provided by these companies at the prepurchase stage, which could influence initial decisions to part with money, data or tissue samples. A scoping exercise revealed 65 DTC-GT companies advertising their services online to consumers in the United Kingdom, of which 15 met our inclusion criteria...
August 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28697779/ethical-social-and-cultural-issues-related-to-clinical-genetic-testing-and-counseling-in-low-and-middle-income-countries-protocol-for-a-systematic-review
#6
Adrina Zhong, Benedict Darren, Helen Dimaras
BACKGROUND: There has been little focus in the literature on how to build genetic testing and counseling services in low- and middle-income countries in a responsible, ethical, and culturally appropriate manner. It is unclear to what extent this area is being explored and what form further research should take. The proposed knowledge synthesis aims to fill this gap in knowledge and mine the existing data to determine the breadth of work in this area and identify ethical, social, and cultural issues that have emerged...
July 11, 2017: Systematic Reviews
https://www.readbyqxmd.com/read/28697325/direct-to-consumer-dna-testing-the-fallout-for-individuals-and-their-families-unexpectedly-learning-of-their-donor-conception-origins
#7
Marilyn Crawshaw
Increasing numbers of donor-conceived individuals (and/or parents) are seeking individuals genetically related through donor conception. One route is through 'direct-to-consumer' (DTC) DNA testing, prompting calls for fertility services to alert donors and prospective parents to the increasing unsustainability of anonymity and secrecy. The complexity of interpreting DNA results in this context has also been discussed, including their lack of absolute certainty, as has the need for professional and peer support...
July 11, 2017: Human Fertility: Journal of the British Fertility Society
https://www.readbyqxmd.com/read/28696598/-patients-with-variations-of-sex-development-an-example-of-interdisciplinary-care
#8
Franziska Phan-Hug, Cynthia Kraus, Ariane Paoloni-Giacobino, Florence Fellmann, Sophia-Anna Typaldou, François Ansermet, Leonor Alamo, Nadja Eggert, Odile Pelet, Yvan Vial, Vincent Muehlethaler, Jacques Birraux, Pascal Ramseyer, Saira-Christine Renteria, Andrew Dwyer, Nelly Pitteloud, Blaise J Meyrat
The medical, psychological and social aspects of disorders of sex development (DSD) represent a challenge for the management of these patients. However, advances in our understanding of the etiology and genetics of this condition, novel surgical approaches and the growing influence of patient groups as well as wider recognition of ethical issues have helped improve the care of patients with a DSD. Importantly, a multidisciplinary approach involving specialists is crucial for understanding and treating such rare and complex cases...
November 9, 2016: Revue Médicale Suisse
https://www.readbyqxmd.com/read/28691916/social-and-ethical-aspects-of-forensic-genetics-a-critical-review
#9
REVIEW
R Williams, M Wienroth
This review describes the social and ethical responses to the history of innovations in forensic genetics and their application to criminal investigations. Following an outline of the three recurrent social perspectives that have informed these responses (crime management, due process, and genetic surveillance), it goes on to introduce the repertoire of ethical considerations by describing a series of key reports that have shaped subsequent commentaries on forensic DNA profiling and databasing. Four major ethical concerns form the focus of the remainder of the paper (dignity, privacy, justice, and social solidarity), and key features of forensic genetic practice are examined in the light of these concerns...
July 2017: Forensic Science Review
https://www.readbyqxmd.com/read/28686807/systematic-review-and-meta-analysis-of-non-invasive-prenatal-dna-testing-for-trisomy-21-implications-for-implementation-in-china
#10
Jiajie Jin, Junwen Yang, Yingyao Chen, Jiayan Huang
OBJECTIVES: To systematically review clinical validation studies of MPS technology in prenatal screening for trisomy 21 and to explore the potential implementation strategies in China compared with those in developing countries. METHODS: Searches of the Cochrane Library, Medline, EMBASE, Web of Science, Biosis Previews and three major Chinese databases were performed to identify all the peer-reviewed articles published between January 1st, 2011 and October 15th, 2016...
July 7, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28686353/national-scale-precision-medicine-for-psychiatric-disorders-in-sweden
#11
REVIEW
Sarah E Bergen, Patrick F Sullivan
Since psychiatric disorders have genetic architectures dominated by common variants of small effects, successful elucidation in psychiatric genetics necessitates large sample sizes. Collaboration and unconventional ascertainment methods are required to fulfill this need. Electronic health records have been increasingly seen as holding great potential for research, although they often pose substantial technical, legal and ethical challenges. Universal health care and national-scale registers with comprehensive medical, developmental, demographic, and geographic information make the Nordic countries ideal for psychiatric genetic epidemiology...
July 7, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28686333/ehealth-provides-a-novel-opportunity-to-exploit-the-advantages-of-the-nordic-countries-in-psychiatric-genetic-research-building-on-the-public-health-care-system-biobanks-and-registries
#12
REVIEW
Ole A Andreassen
Nordic countries have played an important role in the recent progress in psychiatric genetics, both with large well-characterized samples and expertise. The Nordic countries have research advantages due to the organization of their societies, including system of personal identifiers, national health registries with information about diseases, treatment and prescriptions, and a public health system with geographical catchment areas. For psychiatric genetic research, the large biobanks and population surveys are a unique added value...
July 7, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28683583/successful-controlled-ovarian-stimulation-and-vitrification-of-oocytes-in-an-adolescent-diagnosed-with-myelodysplastic-pre-malignant-clone-with-monosomy-7
#13
Valerie Laura Peddie, Abha Maheshwari
An improvement in long-term outcomes for malignancies and non-malignant conditions, together with a review of the NICE Guideline, has led to a need to provide clinical services to deal with the sequelae of disease, its treatment, and subsequent survival of young people diagnosed with cancer. In this article, we describe fertility preservation in an adolescent female diagnosed with Myelodysplastic/pre-malignant Clone with Monosomy 7 with pathophysiology like that of chronic myeloid leukaemia (CML) with known genetic markers in the tumour cells...
July 7, 2017: Human Fertility: Journal of the British Fertility Society
https://www.readbyqxmd.com/read/28659729/some-current-applications-limitations-and-future-perspectives-of-lactic-acid-bacteria-as-probiotics
#14
REVIEW
Smith Etareri Evivie, Gui-Cheng Huo, John Oamen Igene, Xin Bian
Several mechanism and non-mechanism-based studies supporting the claim that lactic acid bacteria (LAB) strains confer health benefits and play immune-modulatory roles were examined in this review. Probiotic applications of LAB on global burdens such as obesity and type-2 diabetes were discussed as well as the use of yoghurt and ice cream as important vehicles to convey several beneficial LAB strains. Probiotic and symbiotic dairy products may be used in the nearest future to treat a variety of health disorders...
2017: Food & Nutrition Research
https://www.readbyqxmd.com/read/28654730/promises-pitfalls-and-practicalities-of-prenatal-whole-exome-sequencing
#15
Sunayna Best, Karen Wou, Neeta Vora, Ignatia B Van den Veyver, Ronald Wapner, Lyn S Chitty
Prenatal genetic diagnosis provides information for pregnancy and perinatal decision-making and management. In several small series, prenatal whole exome sequencing (WES) approaches have identified genetic diagnoses when conventional tests (karyotype and microarray) were not diagnostic. Here, we review published prenatal WES studies and recent conference abstracts. Twenty-nine studies were identified, with diagnostic rates varying between 6.2% and 80%. Differences in inclusion criteria and trio versus singleton approaches to sequencing largely account for the wide range of diagnostic rates...
June 27, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28653171/editing-mammalian-genomes-ethical-considerations
#16
Andy Greenfield
Genome editing is facilitating the manipulation of genomes on an unprecedented scale. It promises to revolutionize our ability to study gene function and generate models of human genetic disease in a range of organisms, most notably in mammals such as the mouse. Is this new technology likely to be disruptive to our research practices in any way? Will it alter the ways in which we implement the ethical imperatives of the 3Rs? In short, what ethical questions are raised by genome editing of mammals in a biomedical research context?...
June 26, 2017: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/28644780/avoiding-racial-essentialism-in-medical-science-curricula
#17
Lundy Braun, Barry Saunders
A wave of medical student activism is shining a spotlight on medical educators' sometimes maladroit handling of racial categories in teaching about health disparities. Coinciding with recent critiques, primarily by social scientists, regarding the imprecise and inappropriate use of race as a biological or epidemiological risk factor in genetics research, medical student activism has triggered new collaborations among students, faculty, and administrators to rethink how race is addressed in the medical curriculum...
June 1, 2017: AMA Journal of Ethics
https://www.readbyqxmd.com/read/28640237/broad-consent-for-health-care-embedded-biobanking-understanding-and-reasons-to-donate-in-a-large-patient-sample
#18
Gesine Richter, Michael Krawczak, Wolfgang Lieb, Lena Wolff, Stefan Schreiber, Alena Buyx
PurposeTo facilitate ethically acceptable and practically successful health care-embedded biobanking, the attitudes and understanding of patients and their motivation to participate need to be explored.MethodsA questionnaire study was conducted among 760 outpatients of a northern German university hospital to assess their awareness of, and motivation for giving broad consent to health care-embedded biobanking, also addressing the issue of feedback on individual-level research findings.ResultsThe overall willingness to give broad consent was high (86...
June 22, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28637735/development-of-the-tailored-rett-intervention-and-assessment-longitudinal-trial-database-and-the-rett-evaluation-of-symptoms-and-treatments-rest-questionnaire
#19
Paramala Santosh, Kate Lievesley, Federico Fiori, Jatinder Singh
INTRODUCTION: Rett syndrome (RTT) is a pervasive neurodevelopmental disorder that presents with deficits in brain functioning leading to language and learning regression, characteristic hand stereotypies and developmental delay. Different mutations in the gene implicated in RTT-methyl-CpG-binding protein 2 (MECP2) establishes RTT as a disorder with divergent symptomatology ranging from individuals with severe to milder phenotypes. A reliable and single multidimensional questionnaire is needed that can embrace all symptoms, and the relationships between them, and can map clinically meaningful data to symptomatology across the lifespan in patients with RTT...
June 21, 2017: BMJ Open
https://www.readbyqxmd.com/read/28614576/the-hope-and-hype-of-crispr-cas9-genome-editing-a-review
#20
Kiran Musunuru
Importance: Clustered regularly interspaced short palindromic repeats (CRISPR) CRISPR-associated protein 9 (CRISPR-Cas9) has garnered a great degree of attention since its first reported uses in mammalian cells in early 2013 due to its perceived impact with respect to potential research applications and, especially, therapeutic applications. Observations: CRISPR-Cas9 is being widely used in the laboratory and has greatly improved the ability to generate genetically modified animal models of human diseases...
June 14, 2017: JAMA Cardiology
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