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Genetic testing ethics

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...
March 13, 2018: Journal of Virological Methods
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
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
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
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, 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
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
Anita Ho, Oliver Quick
BACKGROUND: This debate article explores how smart technologies may create a double-edged sword for patient safety and effective therapeutic relationships. Increasing utilization of health monitoring devices by patients will likely become an important aspect of self-care and preventive medicine. It may also help to enhance accurate symptom reports, diagnoses, and prompt referral to specialist care where appropriate. However, the development, marketing, and use of such technology raise significant ethical implications for therapeutic relationships and patient safety...
March 6, 2018: BMC Medical Ethics
Diane d'Audiffret Van Haecke, Sandrine de Montgolfier
Health professionals have a role to play in assisting patients to communicate genetic information to their relatives. In France, a specific unique legal framework has been implemented concerning this issue. We questioned professionals about their practice and how it has evolved in this new frame. The French law has opted to lay responsibility for disclosure on the person concerned by a positive test result, without totally excluding some responsibility on the part of the professionals involved, in the information to be disclosed and in the transmission of the information if a patient refuses to do it themselves (indirect disclosure)...
February 27, 2018: European Journal of Human Genetics: EJHG
Martin Widschwendter, Allison Jones, Iona Evans, Daniel Reisel, Joakim Dillner, Karin Sundström, Ewout W Steyerberg, Yvonne Vergouwe, Odette Wegwarth, Felix G Rebitschek, Uwe Siebert, Gaby Sroczynski, Inez D de Beaufort, Ineke Bolt, David Cibula, Michal Zikan, Line Bjørge, Nicoletta Colombo, Nadia Harbeck, Frank Dudbridge, Anne-Marie Tasse, Bartha M Knoppers, Yann Joly, Andrew E Teschendorff, Nora Pashayan
The incidence of cancer is continuing to rise and risk-tailored early diagnostic and/or primary prevention strategies are urgently required. The ideal risk-predictive test should: integrate the effects of both genetic and nongenetic factors and aim to capture these effects using an approach that is both biologically stable and technically reproducible; derive a score from easily accessible biological samples that acts as a surrogate for the organ in question; and enable the effectiveness of risk-reducing measures to be monitored...
February 27, 2018: Nature Reviews. Clinical Oncology
Adrian Thorogood, Jason Bobe, Barbara Prainsack, Anna Middleton, Erick Scott, Sarah Nelson, Manuel Corpas, Natasha Bonhomme, Laura Lyman Rodriguez, Madeleine Murtagh, Erika Kleiderman
BACKGROUND: There is a growing support for the stance that patients and research participants should have better and easier access to their raw (uninterpreted) genomic sequence data in both clinical and research contexts. MAIN BODY: We review legal frameworks and literature on the benefits, risks, and practical barriers of providing individuals access to their data. We also survey genomic sequencing initiatives that provide or plan to provide individual access. Many patients and research participants expect to be able to access their health and genomic data...
February 17, 2018: Human Genomics
Judit Sándor
In Europe, there is a wide variety of genetic tests that various private companies offer to patients or to consumers. More and more people have become curious about their genetic predisposition and susceptibility. Most public health-care systems, however, are not adequately prepared for responding to these new demands and to the results of these genetic tests as, quite often, there is no available therapy for the identified genetic condition. This discrepancy between the newly emerging expectations and the insufficient responses contributes to a further rift between the public and private sectors of health care...
2018: Frontiers in Public Health
Simone van der Burg, Anke Oerlemans
Newborn screening (NBS) involves the collection of blood from the heel of a newborn baby and testing it for a list of rare and inheritable disorders. New biochemical screening technologies led to expansions of NBS programs in the first decade of the 21st century. It is expected that they will in time be replaced by genetic sequencing technologies. These developments have raised a lot of ethical debate. We reviewed the ethical literature on NBS, analyzed the issues and values that emerged, and paid particular interest to the type of impacts authors think NBS should have on the lives of children and their families...
March 2018: Bioethics
Ruth M Farrell, Megan A Allyse
The clinical integration of prenatal genetic technologies raises a series of important medical and ethical considerations for patients, families, health care providers, health care systems, and society. It is critical to recognize, understand, and address these issues in conjunction with the continued development of new prenatal genetic screens and tests. This article discusses some of the lead ethical issues as a starting point to further understanding their ramifications on patients, families, communities, and health care providers...
March 2018: Obstetrics and Gynecology Clinics of North America
Minerva A Romero Arenas, Thereasa A Rich, Samuel M Hyde, Naifa L Busaidy, Gilbert J Cote, Mimi I Hu, Robert F Gagel, Paul W Gidley, Camilo Jimenez, Michael E Kupferman, Susan K Peterson, Steven I Sherman, Anita Ying, Roland L Bassett, Steven G Waguespack, Nancy D Perrier, Elizabeth G Grubbs
BACKGROUND: No guidelines exist regarding physicians' duty to inform former patients about novel genetic tests that may be medically beneficial. Research on the feasibility and efficacy of disseminating information and patient opinions on this topic is limited. METHODS: Adult patients treated at our institution from 1950 to 2010 for medullary thyroid cancer, pheochromocytoma, or paraganglioma were included if their history suggested being at-risk for a hereditary syndrome but genetic risk assessment would be incomplete by current standards...
February 9, 2018: Annals of Surgical Oncology
Erica Pitini, Corrado De Vito, Carolina Marzuillo, Elvira D'Andrea, Annalisa Rosso, Antonio Federici, Emilio Di Maria, Paolo Villari
Given the rapid development of genetic tests, an assessment of their benefits, risks, and limitations is crucial for public health practice. We performed a systematic review aimed at identifying and comparing the existing evaluation frameworks for genetic tests. We searched PUBMED, SCOPUS, ISI Web of Knowledge, Google Scholar, Google, and gray literature sources for any documents describing such frameworks. We identified 29 evaluation frameworks published between 2000 and 2017, mostly based on the ACCE Framework (n = 13 models), or on the HTA process (n = 6), or both (n = 2)...
February 8, 2018: European Journal of Human Genetics: EJHG
Verna Jans, Wybo Dondorp, Ellen Goossens, Heidi Mertes, Guido Pennings, Guido de Wert
In the field of medically assisted reproduction (MAR), there is a growing emphasis on the importance of introducing new assisted reproductive technologies (ARTs) only after thorough preclinical safety research, including the use of animal models. At the same time, there is international support for the three R's (replace, reduce, refine), and the European Union even aims at the full replacement of animals for research. The apparent tension between these two trends underlines the urgency of an explicit justification of the use of animals for the development and preclinical testing of new ARTs...
February 7, 2018: Medicine, Health Care, and Philosophy
Sarah C Nelson, Stephanie M Fullerton
Patients and health care consumers can obtain access to their "raw," or uninterpreted, genetic data from direct-to-consumer genetic testing companies, researchers, or providers and pursue self-directed analysis via third-party interpretation tools. Yet relatively little is known about the nature of currently available interpretation tools or the motivations of tool developers. We conducted a structured content analysis of 23 third-party interpretation tool websites and supporting information, tracking features such as types of information returned, modes of generating and presenting that information, and privacy and security measures...
February 7, 2018: Journal of Genetic Counseling
Ulf Kristoffersson
A new genetic test - expanded carrier screening Due to recent advances in molecular genetic testing, massive parallel sequencing has become possible at an affordable cost for health care. Thus, it is now possible to test healthy young persons for carriership of mutations in many genes for severe recessive genetic conditions - extended genetic carrier testing. The introduction of this test in Swedish health care must be accompanied by ethical considerations, education of stakeholders, health care staff and the public...
February 1, 2018: Läkartidningen
L Demougeot, F Houdayer, A Pélissier, F Mohrez, J Thevenon, Y Duffourd, S Nambot, E Gautier, C Binquet, M Rossi, D Sanlaville, S Béjean, C Peyron, C Thauvin-Robinet, L Faivre
INTRODUCTION: The arrival of high-throughput sequencing (HTS) has led to a sweeping change in the diagnosis of developmental abnormalities (DA) with or without intellectual deficiency (ID). With the prospect of deploying these new technologies, two questions have been raised: the representations of HTS among geneticists and the costs incurred due to these analyses. METHODS: Geneticists attending a clinical genetics seminar were invited to complete a questionnaire...
January 27, 2018: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
Nayomi Perera, Maciej Szarek, Amanda Vannitamby, Jaya Vikraman, Georgina Huan, Abigale Durston, John Hutson, Ruili Li
AIM: Cryptorchidism affects 2%-4% of newborn boys and causes infertility and cancer. While normal androgen function is required for successful inguinoscrotal descent, its exact role on gubernacular morphology remains unidentified. We aimed to decipher the effect of androgen blockade on the gubernaculum and surrounding structures. METHODS: Genetically modified mice with androgen receptor knock out (ARKO) were sectioned at ages E17, D0, and D2 for immunohistochemical analysis and D4 for morphological analysis (with ethical approval; A644)...
December 12, 2017: Journal of Pediatric Surgery
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