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Genetics and ethics

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https://www.readbyqxmd.com/read/29790357/-control-editing-of-the-genome-within-reach-or-already-in-our-hands
#1
Radim Brdička, Radoslav Omelka
Although different genome editing tools have been around for decades, the recent emergence of cheap, quick, and accessible CRISPR/Cas9 technology has led to a revolution in this field. The technique has the potential to transform medicine from curative into preventive using a gene therapy. An application of genome editing has proven to be effective for both genetic and non-genetic (e.g. infectious) diseases. However, cancer and rare diseases treatment is at the forefront of interest. Concurrently, the legal and ethical frameworks should be discussed, especially as the technology moves towards a modification of the germ cells or embryos...
2018: Casopís Lékar̆ů C̆eských
https://www.readbyqxmd.com/read/29789954/genetics-of-movement-disorders-and-the-practicing-clinician-who-and-what-to-test-for
#2
REVIEW
Alessio Di Fonzo, Edoardo Monfrini, Roberto Erro
PURPOSE OF REVIEW: This review aims to provide the basic knowledge on the genetics of hypokinetic and hyperkinetic movement disorders to guide clinicians in the decision of "who and what to test for?" RECENT FINDINGS: In recent years, the identification of various genetic causes of hypokinetic and hyperkinetic movement disorders has had a great impact on a better definition of different clinical syndromes. Indeed, the advent of next-generation sequencing (NGS) techniques has provided an impressive step forward in the easy identification of genetic forms...
May 23, 2018: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/29784583/medical-techniques-of-fertility-preservation-in-the-male-and-female
#3
C Vinolas, J Raad, C Sonigo, C Sifer, N Sermondade, M Grynberg
Therapeutic advances in many medical fields have led to the need to consider patient quality of life after curative medico-surgical treatments for malignancy. Thus, it has become a major issue for young patients to preserve the ability to become "genetic" parents, with their own gametes. While the preservation of male fertility has been an established technique for more than 30 years, it is only in the last decade that progress in cryopreservation techniques has allowed surgeons to offer successful oocyte and ovarian tissue cryobanking...
May 18, 2018: Journal of Visceral Surgery
https://www.readbyqxmd.com/read/29784537/artificial-intelligence-a-joint-narrative-on-potential-use-in-pediatric-stem-and-immune-cell-therapies-and-regenerative-medicine
#4
REVIEW
Irena Sniecinski, Jerard Seghatchian
Artificial Intelligence (AI) reflects the intelligence exhibited by machines and software. It is a highly desirable academic field of many current fields of studies. Leading AI researchers describe the field as "the study and design of intelligent agents". McCarthy invented this term in 1955 and defined it as "the science and engineering of making intelligent machines". The central goals of AI research are reasoning, knowledge, planning, learning, natural language processing (communication), perception and the ability to move and manipulate objects...
May 9, 2018: Transfusion and Apheresis Science
https://www.readbyqxmd.com/read/29780892/understanding-barriers-to-the-introduction-of-precision-medicines-in-non-small-cell-lung-cancer-a-qualitative-interview-protocol
#5
Stuart Wright, Gavin Daker-White, William Newman, Katherine Payne
Background: While precision medicines targeting genetic mutations and alterations in non-small cell lung cancer (NSCLC) have been available since 2010, their adoption into clinical practice has been slow. Evidence suggests that a number of barriers, such as insufficient clinician knowledge, a need for training of test providers, or a lack of specific clinical guidelines, may slow the implementation of precision in general. However, little attention has been given to the barriers to providing precision medicines in NSCLC...
2018: Wellcome Open Research
https://www.readbyqxmd.com/read/29773699/comparison-of-the-effect-of-immediate-versus-delayed-transfer-following-a-stimulated-ivf-cycle-on-the-ongoing-pregnancy-rate-of-frozen-thawed-embryo-transfer-cycles-a-study-protocol-for-a-randomised-controlled-trial
#6
He Li, Lu Li, Xiang Lu, Xiaoxi Sun, Ernest Hung Yu Ng
INTRODUCTION: Frozen-thawed embryo transfer (FET) has become an increasingly important part of in-vitro fertilisation (IVF) treatment. Currently, there is still no good scientific evidence to support when to perform FET following a stimulated IVF cycle. Since all published studies are retrospective and the findings are contradictory, a randomised controlled study is needed to provide Level 1 evidence to guide the clinical practice. METHODS/ANALYSIS: This is a randomised controlled trial...
May 17, 2018: BMJ Open
https://www.readbyqxmd.com/read/29770559/ethical-legal-and-social-implications-of-forensic-molecular-phenotyping-in-south-africa
#7
Nandi Slabbert, Laura Jane Heathfield
Conventional forensic DNA analysis involves a matching principle, which compares DNA profiles from evidential samples to those from reference samples of known origin. In casework, however, the accessibility to a reference sample is not guaranteed which limits the use of DNA as an investigative tool. This has led to the development of phenotype prediction, which uses SNP analysis to estimate the physical appearance of the sample donor. Physical traits, such as eye, hair and skin colour, have been associated with certain alleles within specific genes involved in the melanogenesis pathways...
May 17, 2018: Developing World Bioethics
https://www.readbyqxmd.com/read/29769805/genome-wide-sequencing-technologies-a-primer-for-paediatricians
#8
Robin Z Hayeems, Kym M Boycott
Genetic testing has been a routine part of paediatic medicine for decades. Over time, the number of genetic tests available for children presenting with features thought to be explained by an underlying genetic aetiology has expanded considerably. Genome-wide sequencing approaches (e.g., whole-exome sequencing, whole-genome sequencing) are now emerging as the most comprehensive approaches to genetic diagnosis that we have seen to date; multiple serial tests that were once required for a child under diagnostic investigation can now be accomplished in a single assay...
May 2018: Paediatrics & Child Health
https://www.readbyqxmd.com/read/29768326/chronic-constipation-a-review-of-literature
#9
Mojgan Forootan, Nazila Bagheri, Mohammad Darvishi
BACKGROUND: Chronic constipation is described as a common complication determined by difficult and/or rare passage of stool or both. The difference in definition of constipation has led to a wide range of reported prevalence (i.e., between 1% and 80%). Various factors are involved in the pathogenesis of the disease, including type of diet, genetic predisposition, colonic motility, absorption, social economic status, daily behaviors, and biological and pharmaceutical factors. Diagnostic and therapeutic options play a key role in the treatment of chronic constipation...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29754867/assessing-ethics-knowledge-development-of-a-test-of-ethics-knowledge-in-neonatology
#10
Christy L Cummings, Gina M Geis, Henry A Feldman, Elisa R Berson, Jennifer C Kesselheim
OBJECTIVE: To develop and validate the Test of Ethics Knowledge in Neonatology (TEK-Neo) with good internal consistency reliability, item performance, and construct validity that reliably assesses interprofessional staff and trainee knowledge of neonatal ethics. STUDY DESIGN: We adapted a published test of ethics knowledge for use in neonatology. The novel instrument had 46 true/false questions distributed among 7 domains of neonatal ethics: ethical principles, professionalism, genetic testing, beginning of life/viability, end of life, informed permission/decision making, and research ethics...
May 10, 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/29754566/current-ethical-and-legal-issues-in-health-related-direct-to-consumer-genetic-testing
#11
Emilia Niemiec, Louiza Kalokairinou, Heidi Carmen Howard
A variety of health-related genetic testing is currently advertized directly to consumers. This article provides a timely overview of direct-to-consumer genetic testing (DTC GT) and salient ethical issues, as well as an analysis of the impact of the recently adopted regulation on in vitro diagnostic medical devices on DTC GT. DTC GT companies currently employ new testing approaches, report on a wide spectrum of conditions and target new groups of consumers. Such activities raise ethical issues including the questionable analytic and clinical validity of tests, the adequacy of informed consent, potentially misleading advertizing, testing in children, research uses and commercialization of genomic data...
September 2017: Personalized Medicine
https://www.readbyqxmd.com/read/29751362/low-prevalence-of-palliative-care-and-ethics-consultations-for-children-with-chronic-critical-illness
#12
Renee D Boss, Alison Falck, Naomi Goloff, Nancy Hutton, Alison Miles, Miriam Shapiro, Elliott M Weiss, Pamela K Donohue
Medical advances over the past two decades have increased the numbers of children who survive serious conditions. Mortality from premature birth and genetic syndromes has improved such that more clinicians offer, and more families request, interventions to prolong their child's life. While some interventions promise cure, others result in chronic disease states that require ongoing medical care. This article is protected by copyright. All rights reserved.
May 11, 2018: Acta Paediatrica
https://www.readbyqxmd.com/read/29740579/the-role-of-genetics-in-advancing-precision-medicine-for-alzheimer-s-disease-a-narrative-review
#13
REVIEW
Yun Freudenberg-Hua, Wentian Li, Peter Davies
Alzheimer's disease (AD) is the most common type of dementia, which has a substantial genetic component. AD affects predominantly older people. Accordingly, the prevalence of dementia has been rising as the population ages. To date, there are no effective interventions that can cure or halt the progression of AD. The only available treatments are the management of certain symptoms and consequences of dementia. The current state-of-the-art medical care for AD comprises three simple principles: prevent the preventable, achieve early diagnosis, and manage the manageable symptoms...
2018: Frontiers in Medicine
https://www.readbyqxmd.com/read/29733683/biobanking-in-a-challenging-african-environment-unique-experience-from-the-siren-project
#14
Rufus O Akinyemi, Kazeem Akinwande, Samuel Diala, Osi Adeleye, Abiodun Ajose, Kehinde Issa, Dorcas Owusu, Isaac Boamah, Isah Suleiman Yahaya, Abdulraheem Olayemi Jimoh, Lucius Imoh, Gregory Fakunle, Albert Akpalu, Fred Sarfo, Kolawole Wahab, Emmanuel Sanya, Lukman Owolabi, Reginald Obiako, Godwin Osaigbovo, Morenikeji Komolafe, Michael Fawale, Philip Adebayo, Paul Olowoyo, Yahaya Obiabo, Taofiki Sunmonu, Ijezie Chukwuonye, Olayemi Balogun, Basirat Adeoye, Florence Oladele, Peter Olowoniyi, Frederick Adeyemi, Arthur Lezzi, Ajibola Tunde Falayi, Michael Fasanya, Kolawole Ogunwale, Olabisi Adeola, Omolara Olomu, Olumayowa Aridegbe, Ruth Laryea, Ezinne Uvere, Moyinoluwalogo Faniyan, Ezinne Melikam, Raelle Tagge, Onoja Akpa, Joshua Akinyemi, Oyedunni Arulogun, Hemant K Tiwari, Bruce Ovbiagele, Mayowa Owolabi
Africa was previously insufficiently represented in the emerging discipline of biobanking despite commendable early efforts. However, with the Human, Heredity, and Health in Africa (H3Africa) initiative, biorepository science has been bolstered, regional biobanks are springing up, and awareness about biobanks is growing on the continent. The Stroke Investigative Research and Educational Network (SIREN) project is a transnational, multicenter, hospital and community-based study involving over 3000 cases and 3000 controls recruited from 16 sites in Ghana and Nigeria...
May 7, 2018: Biopreservation and Biobanking
https://www.readbyqxmd.com/read/29731958/main-implications-related-to-the-switch-to-brca-1-2-tumor-testing-in-ovarian-cancer-patients-a-proposal-of-a-consensus
#15
Ettore Capoluongo, Giovanni Scambia, Jean-Marc Nabholtz
Background: Since the approval of the first poly (adenosine diphosphate [ADP]) ribose polymerase inhibitor (PARPi; olaparib [Lynparza™]) for platinum-sensitive relapsed high grade ovarian cancer, with either germline or somatic BRCA1/2 deleterious variants, the strategies for BRCA1/2 are dynamically changing. Along with germline testing within the context of familial or sporadic ovarian cancer, patients are now being referred for BRCA1/2 genetic assay above all for treatment decisions: in this setting tumour BRCA assay can allow to identify an estimated 3-9% of patients with peculiar somatic BRCA1/2 mutations...
April 13, 2018: Oncotarget
https://www.readbyqxmd.com/read/29724735/chronic-stress-protection-for-postnatal-depression-prevention-serene-a-protocol-for-an-exploratory-study
#16
Dahlia Tharwat, Marion Trousselard, Mélanie Balès, Anne-Laure Sutter-Dallay, Dominique Fromage, Elisabeth Spitz, Dominique Dallay, Thierry Harvey, Eric Welter, Frédéric Coatleven, Lydie Cherier, Frédérique Teissèdre, Jean-Luc Pouly, Frédéric Dutheil, Anaïs M Duffaud
INTRODUCTION: The prevalence of postnatal depression (PND) is significant: reaching up to 20% in the general population. In mechanistic terms, the risk of PND lies in an interaction between a maternal psychophysiological vulnerability and a chronic environmental context of stress. On the one hand, repetition of stressor during pregnancy mimics a chronic stress model that is relevant to the study of the allostatic load and the adaptive mechanisms. On the other hand, vulnerability factors reflect a psychological profile mirroring mindfulness functioning (psychological quality that involves bringing one's complete and non-judgemental attention to the present experience on a moment-to-moment basis)...
May 3, 2018: BMJ Open
https://www.readbyqxmd.com/read/29722609/-i-didn-t-have-anything-to-decide-i-wanted-to-help-my-kids-an-interview-based-study-of-consent-procedures-for-sampling-human-biological-material-for-genetic-research-in-rural-pakistan
#17
Nana Cecilie Halmsted Kongsholm, Jesper Lassen, Peter Sandøe
BACKGROUND: Individual, comprehensive, and written informed consent is broadly considered an ethical obligation in research involving the sampling of human material. In developing countries, however, local conditions, such as widespread illiteracy, low levels of education, and hierarchical social structures complicate compliance with these standards. As a result, researchers may modify the consent process to secure participation. To evaluate the ethical status of such modified consent strategies it is necessary to assess the extent to which local practices accord with the values underlying informed consent...
May 3, 2018: AJOB Empirical Bioethics
https://www.readbyqxmd.com/read/29708024/how-american-nurses-association-code-of-ethics-informs-genetic-genomic-nursing
#18
Audrey Tluczek, Marie E Twal, Laura Curr Beamer, Candace W Burton, Leslie Darmofal, Mary Kracun, Karen L Zanni, Martha Turner
Members of the Ethics and Public Policy Committee of the International Society of Nurses in Genetics prepared this article to assist nurses in interpreting the American Nurses Association (2015) Code of Ethics for Nurses with Interpretive Statements (Code) within the context of genetics/genomics. The Code explicates the nursing profession's norms and responsibilities in managing ethical issues. The nearly ubiquitous application of genetic/genomic technologies in healthcare poses unique ethical challenges for nursing...
January 1, 2018: Nursing Ethics
https://www.readbyqxmd.com/read/29707216/cutting-edges-and-weaving-threads-in-the-gene-editing-%C3%B0-evolution-reconciling-scientific-progress-with-legal-ethical-and-social-concerns
#19
Ana Nordberg, Timo Minssen, Sune Holm, Maja Horst, Kell Mortensen, Birger Lindberg Møller
Gene-editing technology, such as CRISPR/Cas9, holds great promise for the advancement of science and many useful applications technology. This foundational technology enables modification of the genetic structure of any living organisms with unprecedented precision. Yet, in order to enhance its potential for societal benefit, it is necessary to adapt rules and produce adequate regulations. This requires an interdisciplinary effort in legal thinking. Any legislative initiative needs to consider both the benefits and the problematic aspects of gene editing, from a broader societal and value-based perspective...
May 2018: Journal of Law and the Biosciences
https://www.readbyqxmd.com/read/29705970/-i-would-rather-have-it-done-by-a-doctor-laypeople-s-perceptions-of-direct-to-consumer-genetic-testing-dtc-gt-and-its-ethical-implications
#20
Manuel Schaper, Sabine Wöhlke, Silke Schicktanz
Direct-to-consumer genetic testing (DTC GT) has been available for several years now, with varying degrees of regulation across different countries. Despite a restrictive legal framework it is possible for consumers to order genetic tests from companies located in other countries. However, German laypeople's awareness and perceptions of DTC GT services is still unexplored. We conducted seven focus groups (participants n = 43) with German laypeople to explore their perceptions of and attitudes towards commercial genetic testing and its ethical implications...
April 28, 2018: Medicine, Health Care, and Philosophy
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