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Genetics and ethics

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https://www.readbyqxmd.com/read/27922504/genetic-testing-of-presymptomatic-individuals-at-risk-for-progressive-myopathy
#1
Zachary Simmons
Patients and their family members often ask about genetic testing for asymptomatic individuals who are at risk for developing a genetic disorder. Ordering a genetic test is a complex process involving consideration of many basic ethical principles including autonomy, beneficence, and nonmaleficence, as well as the physician's duty to act in the patient's best interest. Physicians have many choices regarding what tests to order, and they must develop the knowledge and skills to best discuss genetic testing with their patients...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27921324/statins-and-mortality-the-untold-story
#2
Michael S Kostapanos, Moses S Elisaf
Statins are first-line evidence-based drugs for the management of dyslipidaemias and to reduce the risk of cardiovascular events. However, statin clinical trials have shown marginally significant benefits on mortality, especially in the primary prevention setting. A major limitation of those trials is their relatively short follow-up. A reduced number of fatal events within a 5-year follow-up make mortality benefits unlikely to arise. This is particularly relevant for the primary prevention trials, whereby the risk of cardiovascular death is low...
December 6, 2016: British Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/27910804/sudden-cardiac-death-a-nationwide-cohort-study-among-the-young
#3
Bjarke Risgaard
Sudden cardiac death (SCD) is a tragic event affecting millions of individuals worldwide. Although several studies have investigated the epidemiology of SCD, these studies may have been affected by reporting and referral biases, which are reflected in the very different incidence rates and causes of deaths that have previously been reported. Among SCD victims aged < 36 years, inherited cardiac diseases are well known to play an important role. However, the extent to which inherited cardiac diseases also play a role in SCD victims aged < 50 years has not been completely described...
December 2016: Danish Medical Journal
https://www.readbyqxmd.com/read/27903825/synthetic-biology-routes-to-bio-artificial-intelligence
#4
REVIEW
Darren N Nesbeth, Alexey Zaikin, Yasushi Saka, M Carmen Romano, Claudiu V Giuraniuc, Oleg Kanakov, Tetyana Laptyeva
The design of synthetic gene networks (SGNs) has advanced to the extent that novel genetic circuits are now being tested for their ability to recapitulate archetypal learning behaviours first defined in the fields of machine and animal learning. Here, we discuss the biological implementation of a perceptron algorithm for linear classification of input data. An expansion of this biological design that encompasses cellular 'teachers' and 'students' is also examined. We also discuss implementation of Pavlovian associative learning using SGNs and present an example of such a scheme and in silico simulation of its performance...
November 30, 2016: Essays in Biochemistry
https://www.readbyqxmd.com/read/27900742/-precision-nursing-individual-based-knowledge-translation
#5
Li-Chi Chiang, Mei-Ling Yeh, Sui-Lung Su
U.S. President Obama announced a new era of precision medicine in the Precision Medicine Initiative (PMI). This initiative aims to accelerate the progress of personalized medicine in light of individual requirements for prevention and treatment in order to improve the state of individual and public health. The recent and dramatic development of large-scale biologic databases (such as the human genome sequence), powerful methods for characterizing patients (such as genomics, microbiome, diverse biomarkers, and even pharmacogenomics), and computational tools for analyzing big data are maximizing the potential benefits of precision medicine...
December 2016: Hu Li za Zhi the Journal of Nursing
https://www.readbyqxmd.com/read/27899345/ethics-of-genetic-testing-and-research-in-sport-a-position-statement-from-the-australian-institute-of-sport
#6
Nicole Vlahovich, Peter A Fricker, Matthew A Brown, David Hughes
As Australia's peak high-performance sport agency, the Australian Institute of Sport (AIS) has developed this position statement to address the implications of recent advances in the field of genetics and the ramifications for the health and well-being of athletes. Genetic testing has proven of value in the practice of clinical medicine. There are, however, currently no scientific grounds for the use of genetic testing for athletic performance improvement, sport selection or talent identification. Athletes and coaches should be discouraged from using direct-to-consumer genetic testing because of its lack of validation and replicability and the lack of involvement of a medical practitioner in the process...
November 29, 2016: British Journal of Sports Medicine
https://www.readbyqxmd.com/read/27896605/personalized-medicine-in-a-new-genomic-era-ethical-and-legal-aspects
#7
Maria Shoaib, Mansoor Ali Merchant Rameez, Syed Ather Hussain, Mohammed Madadin, Ritesh G Menezes
The genome of two completely unrelated individuals is quite similar apart from minor variations called single nucleotide polymorphisms which contribute to the uniqueness of each and every person. These single nucleotide polymorphisms are of great interest clinically as they are useful in figuring out the susceptibility of certain individuals to particular diseases and for recognizing varied responses to pharmacological interventions. This gives rise to the idea of 'personalized medicine' as an exciting new therapeutic science in this genomic era...
November 28, 2016: Science and Engineering Ethics
https://www.readbyqxmd.com/read/27895004/predictors-of-vascular-cognitive-impairment-poststroke-in-a-middle-eastern-bahrain-cohort-a-proposed-case-control-comparison
#8
Claire Donnellan, Mona Al Banna, Noor Redha, Adel Al Jishi, Isa Al Sharoqi, Safa Taha, Moiz Bakhiet, Fatema Abdulla, Patrick Walsh
BACKGROUND: Poststroke dementia and cognitive impairment are associated with poor long-term outcomes after stroke. The contribution of genetic factors such as the presence of apolipoprotein (ApoE) ɛ4 allele and its association with cognitive impairment poststroke remains inconclusive, particularly in Middle Eastern regions. OBJECTIVE: The aim of this study is to examine all correlates and potential predictors of cognitive impairment including self-awareness and regulation deficits in stroke patients and compare these functions with healthy older adults from a Middle Eastern population...
November 28, 2016: JMIR Research Protocols
https://www.readbyqxmd.com/read/27886669/revising-the-american-dental-association-principles-of-ethics-and-code-of-professional-conduct-adding-respect-for-human-dignity-as-the-sixth-principle-of-dental-ethics-to-accommodate-advances-in-genetic-science
#9
EDITORIAL
https://www.readbyqxmd.com/read/27884969/ethics-knowledge-of-recent-paediatric-residency-graduates-the-role-of-residency-ethics-curricula
#10
Jennifer C Kesselheim, Julie Najita, Debra Morley, Elizabeth Bair, Steven Joffe
OBJECTIVE: To evaluate the relationship between recently trained paediatricians' ethics knowledge and exposure to a formal ethics or professionalism curriculum during residency. METHODS: We conducted a cross-sectional survey of recently trained paediatricians which included a validated 23-item instrument called the Test of Residents' Ethics Knowledge for Pediatrics. The sample included paediatricians who completed medical school in 2006-2008, whose primary specialty was paediatrics or a paediatric subspecialty, and who completed paediatric residency training in 2010-2011...
December 2016: Journal of Medical Ethics
https://www.readbyqxmd.com/read/27881526/towards-the-genetic-basis-of-cerebral-venous-thrombosis-the-beast-consortium-a-study-protocol
#11
Ioana Cotlarciuc, Thomas Marjot, Muhammad S Khan, Sini Hiltunen, Elena Haapaniemi, Tiina M Metso, Jukka Putaala, Susanna M Zuurbier, Matthijs C Brouwer, Serena M Passamonti, Paolo Bucciarelli, Emanuela Pappalardo, Tasmin Patel, Paolo Costa, Marina Colombi, Patrícia Canhão, Aleksander Tkach, Rosa Santacroce, Maurizio Margaglione, Giovanni Favuzzi, Elvira Grandone, Donatella Colaizzo, Kostas Spengos, Antonio Arauz, Amanda Hodge, Reina Ditta, Stephanie Debette, Marialuisa Zedde, Guillaume Pare, José M Ferro, Vincent Thijs, Alessandro Pezzini, Jennifer J Majersik, Ida Martinelli, Jonathan M Coutinho, Turgut Tatlisumak, Pankaj Sharma
INTRODUCTION: Cerebral venous thrombosis (CVT) is a rare cerebrovascular condition accounting for <1% of all stroke cases and mainly affects young adults. Its genetic aetiology is not clearly elucidated. METHODS AND ANALYSIS: To better understand the genetic basis of CVT, we have established an international biobank of CVT cases, Biorepository to Establish the Aetiology of Sinovenous Thrombosis (BEAST) which aims to recruit highly phenotyped cases initially of European descent and later from other populations...
November 22, 2016: BMJ Open
https://www.readbyqxmd.com/read/27875799/genetic-modification-technology-for-nutrition-and-improving-diets-an-ethical-perspective
#12
REVIEW
Sara Glass, Jessica Fanzo
Genetically modified (GM) techniques to improve the nutrition and health content of foods is a highly debated area riddled with ethical dilemmas. Assessing GM technology with a public health ethical framework, this paper identifies public health goals, the potential burdens of the technology, and areas to consider for minimizing burdens and ensuring beneficence, autonomy, and little infringements on justice. Both policymakers and food producers should acknowledge local food environments and the agricultural context of each community in order to effectively prepare communication strategies and equitably distribute any proposed GM food intervention...
November 19, 2016: Current Opinion in Biotechnology
https://www.readbyqxmd.com/read/27875525/precision-medicine-in-cancer-challenges-and-recommendations-from-an-eu-funded-cervical-cancer-biobanking-study
#13
Sanne Samuels, Balazs Balint, Heiko von der Leyen, Philippe Hupé, Leanne de Koning, Choumouss Kamoun, Windy Luscap-Rondof, Ulrike Wittkop, Ksenia Bagrintseva, Marina Popovic, Atttila Kereszt, Els Berns, Gemma G Kenter, Ekaterina S Jordanova, Maud Kamal, Susy Scholl
BACKGROUND: Cervical cancer (CC) remains a leading cause of gynaecological cancer-related mortality worldwide. CC pathogenesis is triggered when human papillomavirus (HPV) inserts into the genome, resulting in tumour suppressor gene inactivation and oncogene activation. Collecting tumour and blood samples is critical for identifying these genetic alterations. METHODS: BIO-RAIDs is the first prospective molecular profiling clinical study to include a substantial biobanking effort that used uniform high-quality standards and control of samples...
December 6, 2016: British Journal of Cancer
https://www.readbyqxmd.com/read/27874213/questioning-the-clinical-utility-of-exome-sequencing-in-developing-countries
#14
Kenneth Fong, Celeste V Bailey, Peggy Tuttle, Bari Cunningham, John A McGrath, Raymond J Cho
The availability of whole-exome sequencing has revolutionized the study of genetic disease in recent years, particularly in dermatology, where clinical phenotypes are readily recognized. As this technology becomes increasingly affordable and accessible, questions are emerging regarding the clinical and ethical responsibilities of physicians who determine variants underlying disease, especially with regard to children, for whom treatment may be warranted and clinical course improved based on a known genotype...
November 22, 2016: Pediatric Dermatology
https://www.readbyqxmd.com/read/27872935/the-social-transformation-of-singapore-medicine-through-55-years-of-the-smj
#15
Ee Heok Kua, Jade Phek Hui Kua
The Singapore Medical Journal (SMJ) has in the past 55 years reflected the phenomenal socioeconomic progress of Singapore. Publications in the pre-independent years were mainly on diseases like cholera, diphtheria, leprosy, tetanus and worm infestation. In the new millennium, the research papers included molecular genetics, health economics, obesity, Internet medicine, cancer, cosmetic surgery and palliative medicine. The annual SMA Lecture published in the SMJ provides an ethical compass for doctors to remind them of primum non nocere...
November 2016: Singapore Medical Journal
https://www.readbyqxmd.com/read/27872199/somatic-individuality-in-context-a-comparative-case-study
#16
Kelly Pender
Scholars have challenged the totalizing nature of the "geneticization thesis," arguing that its brushstrokes are too broad to capture the complicated nature of the new genetics. One such challenge has come from Nikolas Rose's argument that genetic medicine is governed by a new biopolitics in which patients understand themselves as "somatic individuals" who treat their bodies as an "ethical substance" to be worked on in order to secure a healthier future. I argue that Rose's argument, while compelling, paints the new genetics in equally broad brushstrokes and that in order for a concept like somatic individuality to become useful, we must study its manifestation across different communities of at-risk individuals...
November 21, 2016: Public Understanding of Science
https://www.readbyqxmd.com/read/27867757/epigenetics-media-coverage-and-parent-responsibilities-in-the-post-genomic-era
#17
Martine Lappé
Environmental epigenetics is the study of how exposures and experiences can turn genes "on" or "off" without changing DNA sequence. By examining the influence that environmental conditions including diet, stress, trauma, toxins, and care can have on gene expression, this science suggests molecular connections between the environment, genetics, and how acquired characteristics may be inherited across generations. The rapid expansion of research in this area has attracted growing media attention. This coverage has implications for how parents and prospective parents understand health and their perceived responsibilities for children's wellbeing...
September 2016: Current Genetic Medicine Reports
https://www.readbyqxmd.com/read/27862072/views-of-american-ob-gyns-on-the-ethics-of-prenatal-whole-genome-sequencing
#18
Michelle J Bayefsky, Amina White, Paul Wakim, Sara Chandros Hull, David Wasserman, Stephanie Chen, Benjamin E Berkman
OBJECTIVE: Given public demand for genetic information, the potential to perform prenatal whole-genome sequencing (PWGS) non-invasively in the future, and decreasing costs of whole-genome sequencing, it is likely that OB/GYN practice will include PWGS. The goal of this project was to explore OB/GYNs' views on the ethical issues surrounding PWGS and their preparedness for counseling patients on its use. METHODS: A national survey was administered to 2500 members of American Congress of Obstetricians and Gynecologists...
November 16, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27855643/evaluation-of-a-pharmacogenetic-based-warfarin-dosing-algorithm-in-patients-with-low-time-in-therapeutic-range-study-protocol-for-a-randomized-controlled-trial
#19
Leiliane Rodrigues Marcatto, Luciana Sacilotto, Carolina Tosin Bueno, Mirella Facin, Celia Maria Cassaro Strunz, Francisco Carlos Costa Darrieux, Maurício Ibrahim Scanavacca, Jose Eduardo Krieger, Alexandre Costa Pereira, Paulo Caleb Junior Lima Santos
BACKGROUND: Time in therapeutic range (TTR) is a measurement of quality of warfarin therapy and lower TTR values (<50%) are associated with greater risk of thromboembolic and bleeding events. Recently, we developed a pharmacogenetic-based warfarin dosing algorithm specifically calibrated for a Brazilian patient sample. The aims of this study are: to evaluate the impact of a genetic-based algorithm, compared to traditional anticoagulation, in the time to achieve the therapeutic target and in TTR percentage; and to assess the cost-effectiveness of genotype-guided warfarin dosing in a specific cohort of patients with low TTR (<50%) from a tertiary cardiovascular hospital...
November 17, 2016: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/27852683/potential-of-human-twin-embryos-generated-by-embryo-splitting-in-assisted-reproduction-and-research
#20
REVIEW
Laila Noli, Caroline Ogilvie, Yacoub Khalaf, Dusko Ilic
BACKGROUND: Embryo splitting or twinning has been widely used in veterinary medicine over 20 years to generate monozygotic twins with desirable genetic characteristics. The first human embryo splitting, reported in 1993, triggered fierce ethical debate on human embryo cloning. Since Dolly the sheep was born in 1997, the international community has acknowledged the complexity of the moral arguments related to this research and has expressed concerns about the potential for reproductive cloning in humans...
November 16, 2016: Human Reproduction Update
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