keyword
MENU ▼
Read by QxMD icon Read
search

Genetic testing ethics

keyword
https://www.readbyqxmd.com/read/28324246/opinions-of-hearing-parents-about-the-causes-of-hearing-impairment-of-their-children-with-biallelic-gjb2-mutations
#1
Aisen V Solovyev, Lilya U Dzhemileva, Olga L Posukh, Nikolay A Barashkov, Marita S Bady-Khoo, Semen L Lobov, Natalya Yu Popova, Georgii P Romanov, Nikolay N Sazonov, Alexander A Bondar, Igor V Morozov, Mikhail I Tomsky, Sardana A Fedorova, Elza K Khusnutdinova
Hereditary hearing impairment (HI) caused by recessive GJB2 mutations is a frequent sensory disorder. The results of the molecular-based studies of HI are widely used in various genetic test systems. However, the ethical aspects are less described than the genetic aspects. The concerns expressed by individuals from groups with genetic risks must be included in the counseling of patients and their families. For evaluation of subjective opinions of hearing parents about the presumed causes of HI of their children, we analyze the cohort of parents having children with confirmed hereditary HI caused by biallelic recessive GJB2 mutations (in a homozygous or a compound heterozygous state)...
March 21, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28306397/public-views-on-genetics-and-genetic-testing-a-survey-of-the-general-public-in-belgium
#2
Davit Chokoshvili, Carmen Belmans, Roxanne Poncelet, Sofie Sanders, Deborah Vaes, Danya Vears, Sandra Janssens, Isabelle Huys, Pascal Borry
AIMS: To explore the views of the Belgian public on various topics surrounding genetics and genetic testing (GT). MATERIALS AND METHODS: A written questionnaire was administered to visitors of the annual cartoon festival in Knokke-Heist, Belgium, during the summer of 2014. The main theme of the festival was challenges and progress in human genetics and it was attended by more than 100,000 visitors. RESULTS: The survey was completed by 1182 respondents, resulting in a demographically diverse sample with a mean age of 48...
March 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28301696/toward-an-ethically-sensitive-implementation-of-noninvasive-prenatal-screening-in-the-global-context
#3
Jessica Mozersky, Vardit Ravitsky, Rayna Rapp, Marsha Michie, Subhashini Chandrasekharan, Megan Allyse
Noninvasive prenatal screening using cell-free DNA, which analyzes placental DNA circulating in maternal blood to provide information about fetal chromosomal disorders early in pregnancy and without risk to the fetus, has been hailed as a potential "paradigm shift" in prenatal genetic screening. Commercial provision of cell-free DNA screening has contributed to a rapid expansion of the tests included in the screening panels. The tests can include screening for sex chromosome anomalies, rare subchromosomal microdeletions and aneuploidies, and most recently, the entire fetal genome...
March 2017: Hastings Center Report
https://www.readbyqxmd.com/read/28275086/the-autism-epidemic-ethical-legal-and-social-issues-in-a-developmental-spectrum-disorder
#4
William D Graf, Geoffrey Miller, Leon G Epstein, Isabelle Rapin
Classic autism has gradually evolved into the concept of a larger "spectrum disorder." The rising prevalence of autism and autism spectrum disorder (autism/ASD) diagnoses can be largely attributed to broader diagnostic criteria, adoption of dimensional assessment strategies, increased awareness, linking of services to diagnosis, and the inclusion of milder neurodevelopmental differences bordering on normality. The spectrum disorder diagnosis raises numerous bioethical issues for individuals and society. Three groups of caregivers have important ethical, legal, and social obligations to individuals with autism/ASD: (1) families and advocates of individuals with autism/ASD; (2) health care and other professionals; and (3) governments...
March 8, 2017: Neurology
https://www.readbyqxmd.com/read/28272533/paternity-testing-under-the-cloak-of-recreational-genetics
#5
Nathalie Moray, Katherina E Pink, Pascal Borry, Maarten Hd Larmuseau
Direct-to-consumer (DTC) internet companies are selling widely advertised and highly popular genetic ancestry tests to the broad public. These tests are often classified as falling within the scope of so-called 'recreational genetics', but little is known about the impact of using these services. In this study, a particular focus is whether minors (and under what conditions) should be able to participate in the use of these DTC tests. Current ancestry tests are easily able to reveal whether participants are related and can, therefore, also reveal misattributed paternity, with implications for the minors and adults involved in the testing...
March 8, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28259715/ethical-issues-in-genetic-counseling
#6
REVIEW
Nandor Gabor Than, Zoltan Papp
Genetics has made great progress in the past decades, and prenatal diagnosis, predictive genetic testing, and genetic counseling have drawn the limelight of public attention. Because the subject of genetic counseling is of crucial consequence for both the short and long term, its ethical aspects are paramount. The question is whether mankind is mature enough to use this extraordinary knowledge in the right way for the benefit of the society. In the center of ethical questions is the comprehensiveness of information provided to the couples or patients and counseling them about results and making informed educated decisions...
January 23, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28255068/genomic-contraindications-for-heart-transplantation
#7
Danton S Char, Gabriel Lázaro-Muñoz, Aliessa Barnes, David Magnus, Michael J Deem, John D Lantos
Genome sequencing raises new ethical challenges. Decoding the genome produces new forms of diagnostic and prognostic information; however, the information is often difficult to interpret. The connection between most genetic variants and their phenotypic manifestations is not understood. This scenario is particularly true for disorders that are not associated with an autosomal genetic variant. The analytic uncertainty is compounded by moral uncertainty about how, exactly, the results of genomic testing should influence clinical decisions...
March 2, 2017: Pediatrics
https://www.readbyqxmd.com/read/28247171/genetic-counseling-dilemmas-for-a-patient-with-sporadic-amyotrophic-lateral-sclerosis-frontotemporal-degeneration-parkinson-s-disease
#8
Vittorio Mantero, Claudia Tarlarini, Angelo Aliprandi, Giuseppe Lauria, Andrea Rigamonti, Lucia Abate, Paola Origone, Paola Mandich, Silvana Penco, Andrea Salmaggi
Amyotrophic lateral sclerosis (ALS), frontotemporal degeneration and Parkinson's disease may be different expressions of the same neurodegenerative disease. However, association between ALS and parkinsonism-dementia complex (ALS-PDC) has only rarely been reported apart from the cluster detected in Guam. We report a patient presenting with ALS-PDC in whom pathological mutations/expansions were investigated. No other family members were reported to have any symptoms of a neurological condition. Our case demonstrates that ALS-PDC can occur as a sporadic disorder, even though the coexistence of the three clinical features in one patient suggests a single underlying genetic cause...
March 1, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28219287/overview-of-the-moral-status-of-ips-cells
#9
Andreia Martins Martinho
The production of induced pluripotent stem (iPS) cells in 2006 by Takahashi and Yamanaka was a major breakthrough in stem cell research. IPS cells technology holds great promise for cell therapy, disease modelling, and drug testing, but it poses ethical questions concerning the moral status of somatic cells, which can re-gain pluripotency (iPS cells). This article provides an overview of the arguments that substantiate the debate on the moral assessment of iPS cells: potentiality argument; relational properties/standard view; and genetic basis for moral status...
July 2016: New Bioethics: a Multidisciplinary Journal of Biotechnology and the Body
https://www.readbyqxmd.com/read/28199003/applications-of-induced-pluripotent-stem-cell-technologies-in-spinal-cord-injury
#10
REVIEW
Narihito Nagoshi, Hideyuki Okano
Numerous basic research studies have suggested the potential efficacy of neural precursor cell (NPC) transplantation in spinal cord injury (SCI). However, in most such studies the origin of the cells used was mainly fetal tissue or embryonic stem cells, both of which carry potential ethical concerns with respect to clinical use. The development of induced pluripotent stem cells (iPSCs) opened a new path toward regenerative medicine for SCI. iPSCs can be generated from somatic cells by induction of transcription factors, and induced to differentiate into NPCs with characteristics of cells of the central nervous system...
February 15, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28180146/-i-think-we-ve-got-too-many-tests-prenatal-providers-reflections-on-ethical-and-clinical-challenges-in-the-practice-integration-of-cell-free-dna-screening
#11
B L Gammon, S A Kraft, M Michie, M Allyse
BACKGROUND: The recent introduction of cell-free DNA-based non-invasive prenatal screening (cfDNA screening) into clinical practice was expected to revolutionize prenatal testing. cfDNA screening for fetal aneuploidy has demonstrated higher test sensitivity and specificity for some conditions than conventional serum screening and can be conducted early in the pregnancy. However, it is not clear whether and how clinical practices are assimilating this new type of testing into their informed consent and counselling processes...
July 2016: Ethics, Medicine, and Public Health
https://www.readbyqxmd.com/read/28176639/personalized-medicine-in-the-paediatric-population-the-balance-between-pharmacogenetics-progress-and-bioethics
#12
Stefania Schiavone, Margherita Neri, Cristoforo Pomara, Irene Riezzo, Luigia Trabace, Emanuela Turillazzi
Personalized medicine (PM) is becoming increasingly important in contemporary clinical and research scenarios. In the context of PM, pharmacogenomics and pharmacogenetics are aimed at the genetic personalization of drug response. Extrinsic and intrinsic factors may explain inter-individual variability in drug response. Among such factors, age seems to specifically intervene to modulate drug response since normal developmental changes may influence the exposure-response relation. Consequently, the potential benefit of pharmacogenomics (PGx) in the paediatric population is considerable...
February 7, 2017: Current Pharmaceutical Biotechnology
https://www.readbyqxmd.com/read/28160876/neurology-individualized-medicine-when-to-use-next-generation-sequencing-panels
#13
REVIEW
Christopher J Klein, Tatiana M Foroud
Next-generation sequencing (NGS) is increasingly being applied to clinical testing. This practice is predicted to grow especially in neurology clinics because many of their patients have monogenetic causes for their "diagnostic odyssey." The cost of sequencing has been steadily decreasing, but the cost of DNA sequencing is a minor part of the total cost. Downstream data analysis, storage, and interpretation account for most of the total expense. In patients with nonspecific neurologic disorders in which an extensive number of genetic differential diagnoses exist, whole-genome sequencing (WGS) or whole-exome sequencing (WES) has shown promise in the identification of genetic causes...
February 2017: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/28132577/unsolved-challenges-in-pediatric-whole-exome-sequencing-a-literature-analysis
#14
Gabrielle Bertier, Karine Sénécal, Pascal Borry, Danya F Vears
Whole-exome sequencing (WES) has been instrumental in the discovery of novel genes and mechanisms causing Mendelian diseases. While this technology is now being successfully applied in a number of clinics, particularly to diagnose patients with rare diseases, it also raises a number of ethical, legal and social issues. In order to identify what challenges were directly foreseen by technology users, we performed a systematic review of the literature. In this paper, we focus on recent publications related to the use of WES in the pediatric context and analyze the most prominent challenges raised by technology users...
January 28, 2017: Critical Reviews in Clinical Laboratory Sciences
https://www.readbyqxmd.com/read/28119110/attitudes-toward-prenatal-genetic-testing-and-therapeutic-termination-of-pregnancy-among-parents-of-offspring-with-prader-willi-syndrome
#15
Noa Even-Zohar Gross, Talia Geva-Eldar, Yehuda Pollak, Harry J Hirsch, Itai Gross, Varda Gross-Tsur
INTRODUCTION: Prenatal diagnosis (PND) raises ethical dilemmas such as the option of termination of pregnancy (TOP) in cases with severe outcome. Prader-Willi Syndrome (PWS), a complex neurogenetic syndrome with high morbidity and mortality throughout life. Recently, a unique prenatal phenotype was reported and TOP becomes a possibility. OBJECTIVE: To explore factors influencing the attitudes of parents of PWS children toward PND and TOP concerning a hypothetical pregnancy with a PWS fetus...
April 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28116136/looking-to-a-future-of-improved-diabetes-management-interview-with-professor-steve-bain
#16
Steve Bain
Steve Bain talks to Francesca Lake, Managing Editor: Steve is currently a Professor at Swansea University Medical School (Wales), Assistant Medical Director for Research & Development for ABM University Health Board and Clinical Lead for the Diabetes Research Unit, Wales. His clinical training included research into the genetics of Type 1 diabetes, with his current clinical interests surrounding exercise in Type 1 diabetes, new therapies and the provision of diabetes services. His background has led him to be Principal Investigator for several multicenter trials, and to be involved in various ethical committees concerning genetics...
December 2016: Future Science OA
https://www.readbyqxmd.com/read/28071731/in-silico-experiments-of-zebrafish-behaviour-modeling-swimming-in-three-dimensions
#17
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
#18
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...
February 9, 2017: Tierärztliche Praxis. Ausgabe G, Grosstiere/Nutztiere
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
#19
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
#20
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
keyword
keyword
9835
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"