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Genetic testing ethics

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https://www.readbyqxmd.com/read/29131714/understanding-variations-in-secondary-findings-reporting-practices-across-u-s-genome-sequencing-laboratories
#1
Sara Ackerman, Barbara Koenig
BACKGROUND: Increasingly used for clinical purposes, genome and exome sequencing can generate clinically relevant information that is not directly related to the reason for testing (incidental or secondary findings). Debates about the ethical implications of secondary findings were sparked by the American College of Medical Genetics (ACMG)'s 2013 policy statement, which recommended that laboratories report pathogenic alterations in 56 genes. Although wide variation in laboratories' secondary findings policies has been reported, little is known about its causes...
November 13, 2017: AJOB Empirical Bioethics
https://www.readbyqxmd.com/read/29120067/review-of-patient-decision-making-factors-and-attitudes-regarding-preimplantation-genetic-diagnosis
#2
REVIEW
Margaux C Genoff Garzon, Lisa R Rubin, Marci Lobel, James Stelling, Lisa M Pastore
The increasing technical complexity and evolving options for repro-genetic testing have direct implications for information processing and decision-making, yet the research among patients considering preimplantation genetic diagnosis (PGD) is narrowly focused. This review synthesizes the literature regarding patient PGD decision-making factors, and illuminates gaps for future research and clinical translation. Twenty-five articles met the inclusion criteria for evaluating experiences and attitudes of patients directly involved in PGD as an intervention or considering using PGD...
November 9, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29119460/personal-genomic-testing-genetic-inheritance-and-uncertainty
#3
Paul H Mason
The case outlined below is the basis for the In That Case section of the "Ethics and Epistemology of Big Data" symposium. Jordan receives reports from two separate personal genomic tests that provide intriguing data about ancestry and worrying but ambiguous data about the potential risk of developing Alzheimer's disease. What began as a personal curiosity about genetic inheritance turns into an alarming situation of medical uncertainty. Questions about Jordan's family tree are overshadowed by even more questions about Alzheimer's disease and healthy ageing...
November 8, 2017: Journal of Bioethical Inquiry
https://www.readbyqxmd.com/read/29101575/current-and-future-treatments-for-lysosomal-storage-disorders
#4
REVIEW
David P W Rastall, Andrea Amalfitano
Purpose of review Lysosomal storage disorders (LSDs) are a class of genetic disorders that are a testing ground for the invention of novel therapeutics including enzyme replacement therapy (ERT), substrate reduction therapy (SRT), gene therapy, and hematopoietic stem cell transplant (HSCT). This review summarizes recently approved drugs, then examines the successful clinical trials in gene therapy and HSCT. Recent findings The FDA has recently approved a second SRT by reversing an earlier FDA decision, suggesting a favorable regulatory landscape going forward...
November 4, 2017: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/29067088/ethical-issues-in-managing-lysosomal-storage-disorders-in-children-in-low-and-middle-income-countries
#5
REVIEW
Bushra Afroze, Nick Brown
The lysosomal storage diseases are a group of rare, inherited metabolic diseases affecting about 1 in 7000 to 8000 people. In recent years, the introduction of enzyme replacement therapy, substrate reduction therapy and small molecule therapy, has changed the natural course of this otherwise progressive group of disorders leading to severe morbidity and early mortality. These treatment options, however, are extremely expensive and are needed for life thus presenting an economical as well as ethical challenge to the affected families and the health care system of a country...
July 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/28990365/endocannabinoid-related-compounds-in-gastrointestinal-diseases
#6
REVIEW
Marcella Pesce, Alessandra D'Alessandro, Osvaldo Borrelli, Stefano Gigli, Luisa Seguella, Rosario Cuomo, Giuseppe Esposito, Giovanni Sarnelli
The endocannabinoid system (ECS) is an endogenous signalling pathway involved in the control of several gastrointestinal (GI) functions at both peripheral and central levels. In recent years, it has become apparent that the ECS is pivotal in the regulation of GI motility, secretion and sensitivity, but endocannabinoids (ECs) are also involved in the regulation of intestinal inflammation and mucosal barrier permeability, suggesting their role in the pathophysiology of both functional and organic GI disorders...
October 9, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/28975045/huntington-disease-the-complexities-of-making-and-disclosing-a-clinical-diagnosis-after-premanifest-genetic-testing
#7
Elizabeth A McCusker, Clement T Loy
The management of patients and families affected by Huntington disease (HD) is complicated by several factors, both practical and ethical. It can be difficult to determine the onset of clinically manifest HD (mHD). In addition, it can be challenging to decide when to disclose the diagnosis to the affected individual. Firstly, the features of HD, an incurable, inherited, neurocognitive disorder that often manifests in young adulthood, influence how the person presents and accepts a diagnosis. Secondly, a positive genetic test for HD may result in a genetic diagnosis, sometimes years before the development of clinical features and the diagnosis of mHD...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/28966614/detection-of-increased-plasma-interleukin-6-levels-and-prevalence-of-prevotella-copri-and-bacteroides-vulgatus-in-the-feces-of-type-2-diabetes-patients
#8
Aline Zazeri Leite, Nathália de Campos Rodrigues, Marina Ignácio Gonzaga, João Carlos Cicogna Paiolo, Carolina Arantes de Souza, Nadine Aparecida Vicentini Stefanutto, Wellington Pine Omori, Daniel Guariz Pinheiro, João Luiz Brisotti, Euclides Matheucci Junior, Vânia Sammartino Mariano, Gislane Lelis Vilela de Oliveira
Intestinal dysbiosis and metabolic endotoxemia have been associated with metabolic disorders, such as obesity, insulin resistance, and type 2 diabetes (T2D). The main goal of the present study was to evaluate the intestinal dysbiosis in Brazilian T2D patients and correlate these data with inflammatory cytokines and lipopolysaccharides (LPS) plasma concentrations. This study was approved by the Ethics Committees from Barretos Cancer Hospital and all individuals signed the informed consent form. Stool samples were required for DNA extraction, and the V3/V4 regions of bacterial 16S were sequenced using an Illumina platform...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28961265/clinicians-attitude-towards-family-planning-and-timing-of-diagnosis-in-autosomal-dominant-polycystic-kidney-disease
#9
Stéphanie De Rechter, Jonathan Kringen, Peter Janssens, Max Christoph Liebau, Koenraad Devriendt, Elena Levtchenko, Carsten Bergmann, François Jouret, Bert Bammens, Pascal Borry, Franz Schaefer, Djalila Mekahli
Several ethical aspects in the management of Autosomal Dominant Polycystic Kidney Disease (ADPKD) are still controversial, including family planning and testing for disease presence in at-risk individuals. We performed an online survey aiming to assess the opinion and current clinical practice of European pediatric and adult nephrologists, as well as geneticists. A total of 410 clinicians (53% male, mean (SD) age of 48 (10) years) responded, including 216 pediatric nephrologists, 151 adult nephrologists, and 43 clinical geneticists...
2017: PloS One
https://www.readbyqxmd.com/read/28960139/how-should-we-deal-with-misattributed-paternity-a-survey-of-lay-public-attitudes
#10
Georgia Lowe, Jonathan Pugh, Guy Kahane, Louise Corben, Sharon Lewis, Martin Delatycki, Julian Savulescu
Backround: Increasing use of genetic technologies in clinical and research settings increases the potential for misattributed paternity to be identified. Yet existing guidance from the President's Commission for the Study of Ethical Problems in Biomedical and Behavioral Research and the Institute of Medicine (amongst others) offers contradictory advice. Genetic health professionals are thus likely to vary in their practice when misattributed paternity is identified, and empirical investigation into the disclosure of misattributed paternity is scarce...
September 29, 2017: AJOB Empirical Bioethics
https://www.readbyqxmd.com/read/28952070/the-challenges-of-the-expanded-availability-of-genomic-information-an-agenda-setting-paper
#11
Pascal Borry, Heidi Beate Bentzen, Isabelle Budin-Ljøsne, Martina C Cornel, Heidi Carmen Howard, Oliver Feeney, Leigh Jackson, Deborah Mascalzoni, Álvaro Mendes, Borut Peterlin, Brigida Riso, Mahsa Shabani, Heather Skirton, Sigrid Sterckx, Danya Vears, Matthias Wjst, Heike Felzmann
Rapid advances in microarray and sequencing technologies are making genotyping and genome sequencing more affordable and readily available. There is an expectation that genomic sequencing technologies improve personalized diagnosis and personalized drug therapy. Concurrently, provision of direct-to-consumer genetic testing by commercial providers has enabled individuals' direct access to their genomic data. The expanded availability of genomic data is perceived as influencing the relationship between the various parties involved including healthcare professionals, researchers, patients, individuals, families, industry, and government...
September 26, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28948585/-innovative-prenatal-testing-clinical-applications-and-ethical-considerations
#12
Mei-Chih Huang, Shio-Jean Lin, Chih-Ling Chen, Tzu-Jung Huang
The biomedical technology related to prenatal screen/diagnosis has developed rapidly in recent decades. Many prenatal genetic examinations are now available to assist pregnant women to better understand the status and development of their fetus. Moreover, many commercial advertisements for innovative prenatal examinations are now shown in the media. Cell-free DNA Screening (cfDNA screening), a non-invasive prenatal testing (NIPT) procedure, is a safe and high accuracy test that may be done at an earlier gestational age to screen for fetal aneuploidy...
October 2017: Hu Li za Zhi the Journal of Nursing
https://www.readbyqxmd.com/read/28947129/the-highly-anxious-individual-presenting-for-huntington-disease-predictive-genetic-testing-the-psychiatrist-s-role-in-assessment-and-counseling
#13
Mark Groves
Guidelines in the Huntington disease genetic counseling community have set a standard for the process of at-risk counseling, recommending the involvement of a multidisciplinary team, which includes a psychiatrist or psychologist. Though most studies have been largely reassuring regarding the psychologic consequences of predictive testing, there are individuals presenting to testing who really want something else other than the test results, who are being pressured by others to obtain results, or who remain deeply ambivalent about testing...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28943970/ethical-legal-and-social-issues-in-japan-on-the-determination-of-blood-relationship-via-dna-testing
#14
Waki Toya
DNA paternity testing has recently become more widely available in Japan. The aim of this paper is to examine the issues surrounding (1) the implementing agency, whether the testing is conducted in a commercial direct-to-consumer (DTC) setting or a judicial non-DTC setting, and (2) the implementation conditions and more specifically the legal capacity of the proband (test subject). Literature research in Japanese and English was conducted. Some countries prohibit commercial DNA testing without the consent of the proband or her or his legally authorized representative...
2017: Asian Bioeth Rev
https://www.readbyqxmd.com/read/28939999/our-genes-our-selves-hereditary-breast-cancer-and-biological-citizenship-in-norway
#15
Pål Møller, Eivind Hovig
The concept 'hereditary breast cancer' is commonly used to delineate a group of people genetically at risk for breast cancer-all of whom also having risk for other cancers. People carrying pathogenic variants of the BRCA1 and BRCA2 genes are often referred to as those having predisposition for 'hereditary breast cancer'. The two genes, however, are when altered, associated with different risks for and dying from breast cancer. The main risk for dying for carriers of both genes is from ovarian cancer. These biological facts are of philosophical interest, because they are the facts underlying the public debate on BRCA1/2 genetic testing as a model for the discussion of how to implement genetic knowledge and technologies in personalized medicine...
September 22, 2017: Medicine, Health Care, and Philosophy
https://www.readbyqxmd.com/read/28916928/newborn-screening-in-the-era-of-precision-medicine
#16
Lan Yang, Jiajia Chen, Bairong Shen
As newborn screening success stories gained general confirmation during the past 50 years, scientists quickly discovered diagnostic tests for a host of genetic disorders that could be treated at birth. Outstanding progress in sequencing technologies over the last two decades has made it possible to comprehensively profile newborn screening (NBS) and identify clinically relevant genomic alterations. With the rapid developments in whole-genome sequencing (WGS) and whole-exome sequencing (WES) recently, we can detect newborns at the genomic level and be able to direct the appropriate diagnosis to the different individuals at the appropriate time, which is also encompassed in the concept of precision medicine...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28904010/vitamin-d-supplementation-to-palliative-cancer-patients-protocol-of-a-double-blind-randomised-controlled-trial-palliative-d
#17
Maria Helde-Frankling, Jenny Bergqvist, Caritha Klasson, Marie Nordström, Jonas Höijer, Peter Bergman, Linda Björkhem-Bergman
BACKGROUND: According to a small pilot study on palliative cancer patients at our ward, vitamin D supplementation had beneficial effects on pain (measured as opioid consumption), infections and quality of life (QoL) without having any significant side effects. OBJECTIVE: The primary objective of the 'Palliative-D' study is to test the hypothesis that vitamin D supplementation for 12 weeks reduces opioid consumption. The secondary objectives are to study if reduction of antibiotic consumption and fatigue as well as improvement in QoL assessments can be observed...
September 13, 2017: BMJ Supportive & Palliative Care
https://www.readbyqxmd.com/read/28903733/increasing-confidence-and-changing-behaviors-in-primary-care-providers-engaged-in-genetic-counselling
#18
Michael S Wilkes, Frank C Day, Tonya L Fancher, Haley McDermott, Erik Lehman, Robert A Bell, Michael J Green
BACKGROUND: Screening and counseling for genetic conditions is an increasingly important part of primary care practice, particularly given the paucity of genetic counselors in the United States. However, primary care physicians (PCPs) often have an inadequate understanding of evidence-based screening; communication approaches that encourage shared decision-making; ethical, legal, and social implication (ELSI) issues related to screening for genetic mutations; and the basics of clinical genetics...
September 13, 2017: BMC Medical Education
https://www.readbyqxmd.com/read/28902054/ethical-issues-with-genetic-testing-for-tay-sachs
#19
Tricia Clayton
Several genetic disorders are specific to Jewish heritage; one of the most devastating is Tay-Sachs disease.Tay-Sachs is a fatal hereditary disease, causing progressive neurological problems for which there is no cure. Ethical issues surrounding genetic testing for Tay-Sachs within the Jewish community continue to be complex and multifaceted. A perspective of Tay-Sachs, using rights-based ethics and virtue ethics as a theoretical framework, is explored.
October 2017: Journal of Christian Nursing: a Quarterly Publication of Nurses Christian Fellowship
https://www.readbyqxmd.com/read/28854718/single-fathers-by-choice-using-surrogacy-why-men-decide-to-have-a-child-as-a-single-parent
#20
Nicola Carone, Roberto Baiocco, Vittorio Lingiardi
STUDY QUESTION: Why do men decide to have a child by surrogacy as a single parent? SUMMARY ANSWER: Reasons included feeling that it was the right time (i.e. having 'worked through' concerns about single parenthood; career and financial stability; a fear of getting older; no longer wanting to wait for the 'right' relationship), external encouragement, a desire to reproduce and a fear of separation/divorce. WHAT IS KNOWN ALREADY: Because no research has been conducted on single fathers who used surrogacy, their characteristics, motivations and experiences are unknown...
September 1, 2017: Human Reproduction
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