keyword
MENU ▼
Read by QxMD icon Read
search

Genetics and ethics

keyword
https://www.readbyqxmd.com/read/28110285/validation-of-a-clinical-screening-instrument-for-tumour-predisposition-syndromes-in-patients-with-childhood-cancer-tups-protocol-for-a-prospective-observational-multicentre-study
#1
Floor A M Postema, Saskia M J Hopman, Corianne A J M de Borgie, Peter Hammond, Raoul C Hennekam, Johannes H M Merks, Cora M Aalfs, Jakob K Anninga, Lieke Pv Berger, Fonnet E Bleeker, Eveline Sjm de Bont, Corianne Ajm de Borgie, Charlotte J Dommering, Natasha Ka van Eijkelenburg, Peter Hammond, Raoul C Hennekam, Marry M van den Heuvel-Eibrink, Saskia Mj Hopman, Marjolijn Cj Jongmans, Wijnanda A Kors, Tom Gw Letteboer, Jan Lcm Loeffen, Johannes Hm Merks, Maran Jw Olderode-Berends, Floor Am Postema, Anja Wagner
INTRODUCTION: Recognising a tumour predisposition syndrome (TPS) in patients with childhood cancer is of significant clinical relevance, as it affects treatment, prognosis and facilitates genetic counselling. Previous studies revealed that only half of the known TPSs are recognised during standard paediatric cancer care. In current medical practice it is impossible to refer every patient with childhood cancer to a clinical geneticist, due to limited capacity for routine genetic consultation...
January 20, 2017: BMJ Open
https://www.readbyqxmd.com/read/28105298/the-right-to-know-one-s-genetic-origins-and-cross-border-medically-assisted-reproduction
#2
EDITORIAL
Vardit Ravitsky
The use of donor sperm or egg for reproduction raises the issue of the right of donor-conceived individuals to know their genetic origins. This paper argues in favor of acknowledging such a right and explores the challenges that cross-border medically assisted reproduction would raise in relation to it. It first explores possible justifications for such a right by discerning its possible conceptual and empirical groundings. It describes some key ethical and policy implications of the removal of donor anonymity...
2017: Israel Journal of Health Policy Research
https://www.readbyqxmd.com/read/28096516/newborn-sequencing-in-genomic-medicine-and-public-health
#3
Jonathan S Berg, Pankaj B Agrawal, Donald B Bailey, Alan H Beggs, Steven E Brenner, Amy M Brower, Julie A Cakici, Ozge Ceyhan-Birsoy, Kee Chan, Flavia Chen, Robert J Currier, Dmitry Dukhovny, Robert C Green, Julie Harris-Wai, Ingrid A Holm, Brenda Iglesias, Galen Joseph, Stephen F Kingsmore, Barbara A Koenig, Pui-Yan Kwok, John Lantos, Steven J Leeder, Megan A Lewis, Amy L McGuire, Laura V Milko, Sean D Mooney, Richard B Parad, Stacey Pereira, Joshua Petrikin, Bradford C Powell, Cynthia M Powell, Jennifer M Puck, Heidi L Rehm, Neil Risch, Myra Roche, Joseph T Shieh, Narayanan Veeraraghavan, Michael S Watson, Laurel Willig, Timothy W Yu, Tiina Urv, Anastasia L Wise
The rapid development of genomic sequencing technologies has decreased the cost of genetic analysis to the extent that it seems plausible that genome-scale sequencing could have widespread availability in pediatric care. Genomic sequencing provides a powerful diagnostic modality for patients who manifest symptoms of monogenic disease and an opportunity to detect health conditions before their development. However, many technical, clinical, ethical, and societal challenges should be addressed before such technology is widely deployed in pediatric practice...
January 17, 2017: Pediatrics
https://www.readbyqxmd.com/read/28093649/naturalistic-experimental-designs-as-tools-for-understanding-the-role-of-genes-and-the-environment-in-prevention-research
#4
Leslie D Leve, Jenae M Neiderhiser, Gordon T Harold, Misaki N Natsuaki, Brendan J M Bohannan, William A Cresko
Before genetic approaches were applied in experimental studies with human populations, they were used by animal and plant breeders to observe, and experimentally manipulate, the role of genes and environment on specific phenotypic or behavioral outcomes. For obvious ethical reasons, the same level of experimental control is not possible in human populations. Nonetheless, there are natural experimental designs in human populations that can serve as logical extensions of the rigorous quantitative genetic experimental designs used by animal and plant researchers...
January 16, 2017: Prevention Science: the Official Journal of the Society for Prevention Research
https://www.readbyqxmd.com/read/28093642/the-ethical-framework-for-performing-research-with-rare-inherited-neurometabolic-disease-patients
#5
Viviana Giannuzzi, Hugo Devlieger, Lucia Margari, Viveca Lena Odlind, Lamis Ragab, Cinzia Maria Bellettato, Francesca D'Avanzo, Christina Lampe, Linda Cassis, Elisenda Cortès-Saladelafont, Ángels Garcia Cazorla, Ivo Barić, Ljerka Cvitanović-Šojat, Ksenija Fumić, Christine I Dali, Franco Bartoloni, Fedele Bonifazi, Maurizio Scarpa, Adriana Ceci
: The need for performing clinical trials to develop well-studied and appropriate medicines for inherited neurometabolic disease patients faces ethical concerns mainly raising from four aspects: the diseases are rare; include young and very young patients; the neurological impairment may compromise the capability to provide 'consent'; and the genetic nature of the disease leads to further ethical implications. This work is intended to identify the ethical provisions applicable to clinical research involving these patients and to evaluate if these cover the ethical issues...
January 16, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28071731/in-silico-experiments-of-zebrafish-behaviour-modeling-swimming-in-three-dimensions
#6
Violet Mwaffo, Sachit Butail, Maurizio Porfiri
Zebrafish is fast becoming a species of choice in biomedical research for the investigation of functional and dysfunctional processes coupled with their genetic and pharmacological modulation. As with mammals, experimentation with zebrafish constitutes a complicated ethical issue that calls for the exploration of alternative testing methods to reduce the number of subjects, refine experimental designs, and replace live animals. Inspired by the demonstrated advantages of computational studies in other life science domains, we establish an authentic data-driven modelling framework to simulate zebrafish swimming in three dimensions...
January 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28070590/-automated-parturition-control-in-primi-and-multiparous-cows-of-a-simmental-and-holstein-crossbred-herd
#7
Matthias Dippon, Wolfram Petzl, Dorothee Lange, Holm Zerbe
BACKGROUND AND OBJECTIVE: Perinatal calf mortality is a current problem in dairy farming with regards to ethics and economic losses. Optimizing calving management by frequent monitoring helps increasing the survival rate. The objective of this study was to evaluate the breed and parity dependent applicability of a recently introduced automated parturition control system with regards to its reliability in the field. MATERIAL AND METHODS: Seven days prior to the calculated calving date the automated parturition control system was applied intravaginally in 23 primiparous and 31 multiparous cows in a Holstein-Friesian (HF) and Simmental (FV) crossbred herd...
January 10, 2017: Tierärztliche Praxis. Ausgabe G, Grosstiere/Nutztiere
https://www.readbyqxmd.com/read/28070115/proposal-for-a-prospective-registry-for-moyamoya-disease-in-japan
#8
Ken Kazumata, Masaki Ito, Haruto Uchino, Hiroshi Nishihara, Kiyohiro Houkin
The number of clinical research papers published worldwide on moyamoya disease (MMD) has increased recently. However, the majority of the literature comprises retrospective single-center studies collecting data on small numbers of patients. Several multi-center studies are ongoing in Japan; however, the current data are insufficient for comprehensively outlining the various characteristics of MMD. To enhance our knowledge on epidemiologic, vascular, and genetic aspects of MMD, a prospective multicenter registry will be established in Japan that will help to streamline clinical research as well as improve clinical treatments and long-term outcomes...
January 6, 2017: Neurologia Medico-chirurgica
https://www.readbyqxmd.com/read/28066799/the-study-protocol-for-a-non-randomized-controlled-clinical-trial-using-a-genotype-guided-strategy-in-a-dataset-of-patients-who-undergone-percutaneous-coronary-intervention-with-stent
#9
Cristina Lucía Dávila-Fajardo, Jesús Sánchez-Ramos, Xando Diaz- Villamarín, Luis Javier Martínez-González, Pablo Toledo Frías, Susana Martínez Huertas, Francisco Burillo Gómez, Juan Caballero Borrego, Alicia Bautista Pavés, Mª Carmen Marín Guzmán, José Antonio Ramirez Hernández, Concepción Correa Vilches, Jose Cabeza Barrera
This article contains data related to the research article entitled "Results of genotype-guided antiplatelet therapy in patients undergone percutaneous coronary intervention with stent" (J. Sánchez-Ramos, C.L. Dávila-Fajardo, P. Toledo Frías, X. Díaz Villamarín, L.J. Martínez-González, S. Martínez Huertas, F. Burillo Gómez, J. Caballero Borrego, A. Bautista Pavés, M.C. Marín Guzmán, J.A. Ramirez Hernández, C. Correa Vilches, J. Cabeza Barrera, 2016) (1). This data article reports, for the first time, about the non-randomized clinical trial protocol that check if CYP2C19/ABCB1 genotype-guided strategy in which the choice of antiplatelet therapy is based on the genetic test, reduces the rates of cardiovascular events and bleeding compared to a non-tailored strategy in patients undergone percutaneous coronary intervention (PCI) with stent...
February 2017: Data in Brief
https://www.readbyqxmd.com/read/28062062/whole-genome-sequencing-in-healthy-people
#10
REVIEW
Noralane M Lindor, Stephen N Thibodeau, Wylie Burke
Recent technological advances have radically changed genetic testing from an expensive and burdensome undertaking to a rapid and less costly option for many purposes. The utility of "next-generation" sequencing has been found to establish the diagnosis for hundreds of genetic disorders, to assess pharmacogenomic variants, and to identify treatable targets within malignant neoplasms. The ready availability of genomic information has led to the question of whether there would be clinical benefit of sequencing the genome of individuals who are not seeking a diagnosis, that is, genomic screening in generally healthy people, to provide anticipatory insights for their health care...
January 2017: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/28051073/psychological-and-behavioural-impact-of-returning-personal-results-from-whole-genome-sequencing-the-healthseq-project
#11
Saskia C Sanderson, Michael D Linderman, Sabrina A Suckiel, Randi Zinberg, Melissa Wasserstein, Andrew Kasarskis, George A Diaz, Eric E Schadt
Providing ostensibly healthy individuals with personal results from whole-genome sequencing could lead to improved health and well-being via enhanced disease risk prediction, prevention, and diagnosis, but also poses practical and ethical challenges. Understanding how individuals react psychologically and behaviourally will be key in assessing the potential utility of personal whole-genome sequencing. We conducted an exploratory longitudinal cohort study in which quantitative surveys and in-depth qualitative interviews were conducted before and after personal results were returned to individuals who underwent whole-genome sequencing...
January 4, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28049687/towards-a-crispr-view-of-early-human-development-applications-limitations-and-ethical-concerns-of-genome-editing-in-human-embryos
#12
Alvaro Plaza Reyes, Fredrik Lanner
Developmental biologists have become increasingly aware that the wealth of knowledge generated through genetic studies of pre-implantation mouse development might not easily be translated to the human embryo. Comparative studies have been fueled by recent technological advances in single-cell analysis, allowing in-depth analysis of the human embryo. This field could shortly gain more momentum as novel genome editing technologies might, for the first time, also allow functional genetic studies in the human embryo...
January 1, 2017: Development
https://www.readbyqxmd.com/read/28032365/the-human-genome-as-public-justifications-and-implications
#13
Michelle J Bayefsky
Since the human genome was decoded, great emphasis has been placed on the unique, personal nature of the genome, along with the benefits that personalized medicine can bring to individuals and the importance of safeguarding genetic privacy. As a result, an equally important aspect of the human genome - its common nature - has been underappreciated and underrepresented in the ethics literature and policy dialogue surrounding genetics and genomics. This article will argue that, just as the personal nature of the genome has been used to reinforce individual rights and justify important privacy protections, so too the common nature of the genome can be employed to support protections of the genome at a population level and policies designed to promote the public's wellbeing...
December 28, 2016: Bioethics
https://www.readbyqxmd.com/read/28025256/commentary-mendelian-randomization-inspired-causal-inference-in-the-absence-of-genetic-data
#14
Luisa Zuccolo, Michael V Holmes
Studying the long-term causal effects of alcohol drinking is notoriously difficult. Epidemiological studies that use conventional analytical approaches are likely to be confounded and affected by reporting/recall bias and reverse causality, specifically in the form of the sick quitter effect (individuals quitting or never starting to consume alcohol due to underlying ill health).(1) Decades of observational data showing J-shaped relationships of alcohol with risk of disease and in particular cardiovascular disease,(2) fuelled by confirmation bias, have resulted in alcohol policies such that individuals are recommended to drink in moderation, due to putative cardioprotective effects...
December 26, 2016: International Journal of Epidemiology
https://www.readbyqxmd.com/read/28009443/review-myopathology-in-the-times-of-modern-genetics
#15
Markus Schuelke, Nancy Christine Øien, Anders Oldfors
The advent of Next Generation Sequencing (NGS) technologies has accelerated the rate of novel disease gene discovery. Analysis of the large datasets generated by whole exome sequencing, whole genome sequencing, and other NGS approaches poses a challenge to physicians and pathologists searching for disease causing variants amongst the 50,000-3 million polymorphisms typically seen in these datasets. This review describes strategies that successfully combine classical neuropathological investigation (e.g. histology, immunostaining, and electron microscopy) with modern NGS technologies to pinpoint the underlying genetic cause of a disease...
December 23, 2016: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28000694/access-policies-in-biobank-research-what-criteria-do-they-include-and-how-publicly-available-are-they-a-cross-sectional-study
#16
Holger Langhof, Hannes Kahrass, Sören Sievers, Daniel Strech
Access policies of biobanks specify the governance of sample and data sharing. Basic guidance on relevant access criteria exists, but so far little is known about their public availability and what criteria for access and prioritization they actually include. Access policies were gathered by hand searching the websites of biobanks identified via registries (eg, BBMRI and P3G), and by additional search strategies. Criteria for access and prioritization were synthesized by thematic analysis. Of 523 biobank websites screened, 9% included a publicly available access policy...
December 21, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28000092/the-slippery-slope-argument-in-the-ethical-debate-on-genetic-engineering-of-humans
#17
Douglas Walton
This article applies tools from argumentation theory to slippery slope arguments used in current ethical debates on genetic engineering. Among the tools used are argumentation schemes, value-based argumentation, critical questions, and burden of proof. It is argued that so-called drivers such as social acceptance and rapid technological development are also important factors that need to be taken into account alongside the argumentation scheme. It is shown that the slippery slope argument is basically a reasonable (but defeasible) form of argument, but is often flawed when used in ethical debates because of failures to meet the requirements of its scheme...
December 20, 2016: Science and Engineering Ethics
https://www.readbyqxmd.com/read/27995446/public-perceptions-of-ethical-legal-and-social-implications-of-pre-implantation-genetic-diagnosis-pgd-in-malaysia
#18
Angelina P Olesen, Siti Nurani Mohd Nor, Latifah Amin, Anisah Che Ngah
Pre-implantation genetic diagnosis (PGD) became well known in Malaysia after the birth of the first Malaysian 'designer baby', Yau Tak in 2004. Two years later, the Malaysian Medical Council implemented the first and only regulation on the use of Pre-implantation Genetic Diagnosis in this country. The birth of Yau Tak triggered a public outcry because PGD was used for non-medical sex selection thus, raising concerns about PGD and its implications for the society. This study aims to explore participants' perceptions of the future implications of PGD for the Malaysian society...
December 19, 2016: Science and Engineering Ethics
https://www.readbyqxmd.com/read/27995427/primary-care-providers-cancer-genetic-testing-related-knowledge-attitudes-and-communication-behaviors-a-systematic-review-and-research-agenda
#19
Jada G Hamilton, Ekland Abdiwahab, Heather M Edwards, Min-Lin Fang, Andrew Jdayani, Erica S Breslau
BACKGROUND: Primary care providers (PCPs) can play a critical role in helping patients receive the preventive health benefits of cancer genetic risk information. Thus, the objective of this systematic review was to identify studies of US PCPs' knowledge, attitudes, and communication-related behaviors regarding genetic tests that could inform risk-stratification approaches for breast, colorectal, and prostate cancer screening in order to describe current findings and research gaps. METHODS: We conducted a systematic search of six electronic databases to identify peer-reviewed empirical articles relating to US PCPs and genetic testing for breast, colorectal, or prostate cancer published in English from 2008 to 2016...
December 19, 2016: Journal of General Internal Medicine
https://www.readbyqxmd.com/read/27986504/the-consequences-of-chronic-cannabis-smoking-in-vulnerable-adolescents
#20
REVIEW
Montaha Al Iede, Kenneth Nunn, Bronwyn Milne, Dominic A Fitzgerald
Cannabis, like the mythic shape-shifter, presents in various guises, morphing with the perspective and context of the observer. Arguments about cannabis are confused by a myriad of debates-medical, social, ethical and political-as if a single conceptual umbrella can capture the variety and granularity of marijuana-related issues. This paper responds to marijuana use as it is commonly practised by youth in Australia. It has little to say about synthetic cannabinoids, specific medicinal cannabinoids, or medicinal properties of marijuana...
November 9, 2016: Paediatric Respiratory Reviews
keyword
keyword
9721
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"