keyword
MENU ▼
Read by QxMD icon Read
search

Genetic testing ethics

keyword
https://www.readbyqxmd.com/read/29769805/genome-wide-sequencing-technologies-a-primer-for-paediatricians
#1
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/29754867/assessing-ethics-knowledge-development-of-a-test-of-ethics-knowledge-in-neonatology
#2
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
#3
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/29740579/the-role-of-genetics-in-advancing-precision-medicine-for-alzheimer-s-disease-a-narrative-review
#4
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/29731958/main-implications-related-to-the-switch-to-brca-1-2-tumor-testing-in-ovarian-cancer-patients-a-proposal-of-a-consensus
#5
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/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
#6
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
https://www.readbyqxmd.com/read/29699570/patenting-human-genes-chinese-academic-articles-portrayal-of-gene-patents
#7
Li Du
BACKGROUND: The patenting of human genes has been the subject of debate for decades. While China has gradually come to play an important role in the global genomics-based testing and treatment market, little is known about Chinese scholars' perspectives on patent protection for human genes. METHODS: A content analysis of academic literature was conducted to identify Chinese scholars' concerns regarding gene patents, including benefits and risks of patenting human genes, attitudes that researchers hold towards gene patenting, and any legal and policy recommendations offered for the gene patent regime in China...
April 24, 2018: BMC Medical Ethics
https://www.readbyqxmd.com/read/29689133/behavioral-economics-a-new-lens-for-understanding-genomic-decision-making
#8
Scott Emory Moore, Holley H Ulbrich, Kenneth Hepburn, Bonnie Holaday, Rachel Mayo, Julia Sharp, Rosanne H Pruitt
PURPOSE: This article seeks to take the next step in examining the insights that nurses and other healthcare providers can derive from applying behavioral economic concepts to support genomic decision making. As genomic science continues to permeate clinical practice, nurses must continue to adapt practice to meet new challenges. Decisions associated with genomics are often not simple and dichotomous in nature. They can be complex and challenging for all involved. DESIGN: This article offers an introduction to behavioral economics as a possible tool to help support patients', families', and caregivers' decision making related to genomics...
April 24, 2018: Journal of Nursing Scholarship
https://www.readbyqxmd.com/read/29685123/the-pigeon-project-protocol-of-a-longitudinal-study-examining-psychosocial-and-ethical-issues-and-outcomes-in-germline-genomic-sequencing-for-cancer
#9
Megan Best, Ainsley J Newson, Bettina Meiser, Ilona Juraskova, David Goldstein, Kathy Tucker, Mandy L Ballinger, Dominique Hess, Timothy E Schlub, Barbara Biesecker, Richard Vines, Kate Vines, David Thomas, Mary-Anne Young, Jacqueline Savard, Chris Jacobs, Phyllis Butow
BACKGROUND: Advances in genomics offer promise for earlier detection or prevention of cancer, by personalisation of medical care tailored to an individual's genomic risk status. However genome sequencing can generate an unprecedented volume of results for the patient to process with potential implications for their families and reproductive choices. This paper describes a protocol for a study (PiGeOn) that aims to explore how patients and their blood relatives experience germline genomic sequencing, to help guide the appropriate future implementation of genome sequencing into routine clinical practice...
April 23, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29683071/frequency-distribution-of-blmh-xpo5-and-hfe-gene-polymorphisms-in-the-south-indian-population-and-their-association-with-hodgkin-lymphoma
#10
Dimpal N Thakkar, Sreenivasulu Palugulla, Sandhiya Selvarajan, Biswajit Dubashi
BACKGROUND: Hodgkin lymphoma, a highly curable malignancy is currently treated with an adriamycin, bleomycin (BLM), vinblastine, and dacarbazine (ABVD) regimen. BLM-induced pulmonary toxicity (BPT) is one of the dose-limiting toxicities. Previous reports have revealed that genetic variants rs1050565, rs11077, and rs1800562 are involved in the development of BPT. These results cannot be extrapolated to the South Indian population because of their ethnic difference. This study aimed to determine the frequency of rs1050565, rs11077, and rs1800562 variants in South Indian healthy individuals and Hodgkin lymphoma cases...
March 1, 2018: International Journal of Biological Markers
https://www.readbyqxmd.com/read/29661182/women-s-perspectives-on-the-ethical-implications-of-non-invasive-prenatal-testing-a-qualitative-analysis-to-inform-health-policy-decisions
#11
Meredith Vanstone, Alexandra Cernat, Jeff Nisker, Lisa Schwartz
BACKGROUND: Non-Invasive Prenatal Testing (NIPT) is a technology which provides information about fetal genetic characteristics (including sex) very early in pregnancy by examining fetal DNA obtained from a sample of maternal blood. NIPT is a morally complex technology that has advanced quickly to market with a strong push from industry developers, leaving many areas of uncertainty still to be resolved, and creating a strong need for health policy that reflects women's social and ethical values...
April 16, 2018: BMC Medical Ethics
https://www.readbyqxmd.com/read/29655499/genetic-testing-in-clinical-settings
#12
Nora Franceschini, Amber Frick, Jeffrey B Kopp
Genetic testing is used for screening, diagnosis, and prognosis of diseases consistent with a genetic cause and to guide drug therapy to improve drug efficacy and avoid adverse effects (pharmacogenomics). This In Practice review aims to inform about DNA-related genetic test availability, interpretation, and recommended clinical actions based on results using evidence from clinical guidelines, when available. We discuss challenges that limit the widespread use of genetic information in the clinical care setting, including a small number of actionable genetic variants with strong evidence of clinical validity and utility, and the need for improving the health literacy of health care providers and the public, including for direct-to-consumer tests...
April 11, 2018: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/29628449/ethical-guidelines-for-genetic-research-on-alcohol-addiction-and-its-applications
#13
Audrey R Chapman, Adrian Carter, Jonathan M Kaplan, Kylie Morphett, Wayne Hall
Research on the genomic correlates to addiction raises ethical issues in a number of different domains. In this paper, we evaluate the status of genetic research on alcohol dependence as background to addressing the ethical issues raised in conducting research on addiction and the application of that research to the formulation of public policies. We conclude that genetic testing is not yet ready for use in the prediction of alcohol dependence liability. Pharmacogenetic testing for responses to treatments may have more clinical utility, although additional research is required to demonstrate utility and cost-effectiveness...
2018: Kennedy Institute of Ethics Journal
https://www.readbyqxmd.com/read/29576601/genome-database-of-the-latvian-population-lgdb-design-goals-and-primary-results
#14
Vita Rovite, Yael Wolff-Sagi, Linda Zaharenko, Liene Nikitina-Zake, Elmars Grens, Janis Klovins
BACKGROUND: The Genome Database of the Latvian Population (LGDB) is a national biobank that collects, maintains, and processes health information, data, and biospecimens collected from representatives of the Latvian population. These specimens serve as a foundation for epidemiological research and prophylactic and therapeutic purposes. METHODS: Participant recruitment and biomaterial and data processing were performed according to specifically designed standard protocols, taking into consideration international quality requirements...
March 24, 2018: Journal of Epidemiology
https://www.readbyqxmd.com/read/29548747/replacement-of-primary-monkey-kidney-cells-by-l20b-cell-line-in-the-test-for-effective-inactivation-of-inactivated-poliovirus-vaccine
#15
Cynthia Chapel, Nathalie Rocher-Hélion, Nathalie Mantel, Sandy Imbert, Eric Deshaies, Véronique Barban, Alain Sabouraud, Jean-Philippe Barbe, Laurent Mallet
Absence of 'live' residual poliovirus in Inactivated Poliovirus Vaccine (IPV) is routinely checked using Primary Monkey Kidney Cells (PMKC). However, the increasing demand for IPV and the ethical, technical and safety issues associated with the use of non-human primates in research and quality control, has made the replacement of primary cells with an established cell line a priority, in line with the principles of the 3Rs (Replacement, Reduction and Refinement in animal testing). As an alternative to PMKC, we evaluated the L20B cell line; a mouse cell-line genetically engineered to express human poliovirus receptor, CD155...
June 2018: Journal of Virological Methods
https://www.readbyqxmd.com/read/29548277/common-variants-in-the-herg-kcnh2-voltage-gated-potassium-channel-are-associated-with-altered-fasting-and-glucose-stimulated-plasma-incretin-and-glucagon-responses
#16
Line Engelbrechtsen, Yuvaraj Mahendran, Anna Jonsson, Anette Prior Gjesing, Peter E Weeke, Marit E Jørgensen, Kristine Færch, Daniel R Witte, Jens J Holst, Torben Jørgensen, Niels Grarup, Oluf Pedersen, Henrik Vestergaard, Signe Torekov, Jørgen K Kanters, Torben Hansen
BACKGROUND: Patients with long QT syndrome due to rare loss-of-function mutations in the human ether-á-go-go-related gene (hERG) have prolonged QT interval, risk of arrhythmias, increased secretion of insulin and incretins and impaired glucagon response to hypoglycemia. This is caused by a dysfunctional Kv11.1 voltage-gated potassium channel. Based on these findings in patients with rare variants in hERG, we hypothesized that common variants in hERG may also lead to alterations in glucose homeostasis...
March 16, 2018: BMC Genetics
https://www.readbyqxmd.com/read/29533092/inherited-blood-disorders-genetic-risk-and-global-public-health-framing-birth-defects-as-preventable-in-india
#17
Sangeeta Chattoo
This paper engages critically with the global assemblage framing sickle cell and thalassaemia disorders as a 'global health crisis'; and the promise of genomics, largely DNA-based carrier/pre-conceptual screening, prenatal diagnosis with a view to terminations, deployed in framing a solution to these historically racialised spectrum of diseases as essentially preventable. Sickle cell and thalassaemia are recessively inherited, potentially life-threatening haemoglobin disorders with significant variation of severity, often needing life-long treatment...
April 2018: Anthropology & Medicine
https://www.readbyqxmd.com/read/29525930/exploring-the-issues-surrounding-clinical-exome-sequencing-in-the-prenatal-setting
#18
Swetha Narayanan, Bruce Blumberg, Marla L Clayman, Vivian Pan, Catherine Wicklund
Exome sequencing is a clinical diagnostic test offered primarily for children and adults with suspected genetic conditions. The purpose of this study was to explore issues related to exome sequencing in a reproductive clinical setting. This was a qualitative study using semi-structured interviews. Participants were professionals drawn from four key stakeholder groups-healthcare providers, laboratory/industry, ethics, and government. Transcribed interviews were analyzed for emergent themes. Most participants saw potential clinical utility in offering prenatal exome sequencing for diagnostic purposes as opposed to screening...
March 10, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29513089/an-empirical-assessment-of-the-short-term-impacts-of-a-reading-of-deborah-zoe-laufer-s-drama-informed-consent-on-attitudes-and-intentions-to-participate-in-genetic-research
#19
Erin Rothwell, Jeffrey R Botkin, Sydney Cheek-O'Donnell, Bob Wong, Gretchen A Case, Erin Johnson, Trent Matheson, Alena Wilson, Nicole R Robinson, Jared Rawlings, Brooke Horejsi, Ana Maria Lopez, Carrie L Byington
OBJECTIVE: This study assessed the short-term impact of the play "Informed Consent" by Deborah Zoe Laufer (a fictionalized look at the controversy over specimens collected from the Havasupai Tribe for diabetes research in 1989) on perceptions of trust, willingness to donate biospecimens, and attitudes toward harm and privacy among the medical and undergraduate students, faculty, and the public in the Intermountain West. METHODS: Surveys were administered before and after a staged reading of the play by professional actors...
March 7, 2018: AJOB Empirical Bioethics
https://www.readbyqxmd.com/read/29510755/whole-exome-sequencing-in-three-families-segregating-a-pediatric-case-of-sarcoidosis
#20
Alain Calender, Pierre Antoine Rollat Farnier, Adrien Buisson, Stéphane Pinson, Abderrazzaq Bentaher, Serge Lebecque, Harriet Corvol, Rola Abou Taam, Véronique Houdouin, Claire Bardel, Pascal Roy, Gilles Devouassoux, Vincent Cottin, Pascal Seve, Jean-François Bernaudin, Clarice X Lim, Thomas Weichhart, Dominique Valeyre, Yves Pacheco, Annick Clement, Nadia Nathan
BACKGROUND: Sarcoidosis (OMIM 181000) is a multi-systemic granulomatous disorder of unknown origin. Despite multiple genome-wide association (GWAS) studies, no major pathogenic pathways have been identified to date. To find out relevant sarcoidosis predisposing genes, we searched for de novo and recessive mutations in 3 young probands with sarcoidosis and their healthy parents using a whole-exome sequencing (WES) methodology. METHODS: From the SARCFAM project based on a national network collecting familial cases of sarcoidosis, we selected three families (trios) in which a child, despite healthy parents, develop the disease before age 15 yr...
March 6, 2018: BMC Medical Genomics
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"