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Ethics of Genetic Counseling

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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
#1
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/29700101/evaluation-of-a-decision-aid-for-incidental-genomic-results-the-genomics-adviser-protocol-for-a-mixed-methods-randomised-controlled-trial
#2
Salma Shickh, Marc Clausen, Chloe Mighton, Selina Casalino, Esha Joshi, Emily Glogowski, Kasmintan A Schrader, Adena Scheer, Christine Elser, Seema Panchal, Andrea Eisen, Tracy Graham, Melyssa Aronson, Kara M Semotiuk, Laura Winter-Paquette, Michael Evans, Jordan Lerner-Ellis, June C Carroll, Jada G Hamilton, Kenneth Offit, Mark Robson, Kevin E Thorpe, Andreas Laupacis, Yvonne Bombard
INTRODUCTION: Genome sequencing, a novel genetic diagnostic technology that analyses the billions of base pairs of DNA, promises to optimise healthcare through personalised diagnosis and treatment. However, implementation of genome sequencing faces challenges including the lack of consensus on disclosure of incidental results, gene changes unrelated to the disease under investigation, but of potential clinical significance to the patient and their provider. Current recommendations encourage clinicians to return medically actionable incidental results and stress the importance of education and informed consent...
April 26, 2018: BMJ Open
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
#3
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/29582952/-exome-analysis-a-game-changer-in-pediatrics
#4
REVIEW
Asaf Ta-Shma, Simon Edvardson, Orly Elpeleg, Polina Stepensky
Thirteen years after the completion of the human genome project, the determination of the genomic sequence of the coding parts of the DNA (the exones, hence the exome), has turned into a primary diagnostic tool in daily use in clinical practice. The Department of Genetics at Hadassah was the first in Israel to introduce exome analysis as a robust diagnostic tool into the pediatric departments. Till now 2600 exomes were analyzed at Hadassah, 850 of them in 2016 alone. Exome analysis is cheap and fast, enabling precise and non-invasive diagnosis for a vast array of genetic disorders and congenital malformations...
March 2018: Harefuah
https://www.readbyqxmd.com/read/29537064/preconception-risk-assessment-for-thalassaemia-sickle-cell-disease-cystic-fibrosis-and-tay-sachs-disease
#5
REVIEW
Norita Hussein, Stephen F Weng, Joe Kai, Jos Kleijnen, Nadeem Qureshi
BACKGROUND: Globally, about five per cent of children are born with congenital or genetic disorders. The most common autosomal recessive conditions are thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease, with higher carrier rates in specific patient populations. Identifying and counselling couples at genetic risk of the conditions before pregnancy enables them to make fully informed reproductive decisions, with some of these choices not being available if genetic counselling is only offered in an antenatal setting...
March 14, 2018: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29525930/exploring-the-issues-surrounding-clinical-exome-sequencing-in-the-prenatal-setting
#6
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/29499514/bilateral-split-hand-foot-malformation-in-siblings-case-series
#7
Mohammed Ashi, Rehab Assur, Basim Awan, Hattan Aljaaly
INTRODUCTION: Split Hand-Foot malformation (SHFM) is a congenital limb defect that affects the central rays of the hands and/or feet. It is a rare condition that has genetic and environmental etiologies. It ranges in severity depending on the extent of the malformation. We report on two siblings with severe SHFM affecting all limbs. METHODS: We described two cases of siblings with SHFM and discuss the possible causes of the condition. This research did not require ethical approval due to the institute not requiring it for this type of study...
2018: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29447661/ethical-quandaries-around-expanded-carrier-screening-in-third-party-reproduction
#8
REVIEW
Heidi Mertes, Steven R Lindheim, Guido Pennings
Although current screening methods of gamete donors are capable of reducing the incidence of genetic anomalies in donor offspring below general population levels, targeted screening for a large number of conditions (expanded carrier screening or ECS) could be considered as part of the routine selection procedure for gamete donors. There are, however, important drawbacks to its practical implementation. Excluding all carriers of severe recessive monogenic pediatric disorders would disqualify virtually all donors, and other approaches negatively affect cost (and therefore access), present dilemmas in regard to disclosure of genetic findings, and/or overburden the intended parents...
February 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29428287/whole-exome-sequencing-applications-in-prenatal-genetics
#9
REVIEW
Angie C Jelin, Neeta Vora
Prenatal whole exome sequencing (WES) has the potential to increase the ability to provide more diagnostic capabilities in fetuses with sonographic abnormalities, which would then improve the ability to counsel families. It is also often the first step in improving the path toward informed diagnosis and treatment, which is especially important in the era of advancing in utero fetal therapy. This article discusses the current literature regarding prenatal WES, clinical indications for WES, challenges with interpretation/counseling (variants of unknown significance), research priorities, ethical issues, and potential future advances...
March 2018: Obstetrics and Gynecology Clinics of North America
https://www.readbyqxmd.com/read/29427212/recontacting-patients-with-updated-genetic-testing-recommendations-for-medullary-thyroid-carcinoma-and-pheochromocytoma-or-paraganglioma
#10
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...
May 2018: Annals of Surgical Oncology
https://www.readbyqxmd.com/read/29395096/exome-and-genome-sequencing-in-reproductive-medicine
#11
REVIEW
Elizabeth A Normand, Joseph T Alaimo, Ignatia B Van den Veyver
The advent of next-generation sequencing has enabled clinicians to assess many genes simultaneously and at high resolution. This is advantageous for diagnosing patients in whom a genetic disorder is suspected but who have a nonspecific or atypical phenotype or when the disorder has significant genetic heterogeneity. Herein, we describe common clinical applications of next-generation sequencing technology, as well as their respective benefits and limitations. We then discuss key considerations of variant interpretation and reporting, clinical utility, pre- and posttest genetic counseling, and ethical challenges...
February 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29305293/beyond-screening-for-chromosomal-abnormalities-advances-in-non-invasive-diagnosis-of-single-gene-disorders-and-fetal-exome-sequencing
#12
REVIEW
Jane Hayward, Lyn S Chitty
Emerging genomic technologies, largely based around next generation sequencing (NGS), are offering new promise for safer prenatal genetic diagnosis. These innovative approaches will improve screening for fetal aneuploidy, allow definitive non-invasive prenatal diagnosis (NIPD) of single gene disorders at an early gestational stage without the need for invasive testing, and improve our ability to detect monogenic disorders as the aetiology of fetal abnormalities. This presents clinicians and scientists with novel challenges as well as opportunities...
April 2018: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29250518/whole-genome-sequencing-in-newborn-screening-attitudes-and-opinions-of-bulgarian-pediatricians-and-geneticists
#13
Georgi Iskrov, Stefan Ivanov, Stephen Wrenn, Rumen Stefanov
Objective: The aim of this study was to assess the attitudes and opinions on the potential use of whole-genome sequencing (WGS) in conjunction with the traditional newborn screening (NBS). We conducted an online survey among pediatricians and geneticists from Bulgaria. The study was based on the concept of non-selective WGS for all newborns and analysis of all genes. Results/conclusion: In total, 120 out of 299 invited participants completed the survey, with an overall response rate of 40...
2017: Frontiers in Public Health
https://www.readbyqxmd.com/read/29233487/genetic-counselling-patient-education-and-informed-decision-making-in-the-genomic-era
#14
REVIEW
Sylvia A Metcalfe
Genomic technologies are now being applied to reproductive genetic screening. Circulating cell-free DNA testing in pregnancy for fetal chromosomal abnormalities is becoming more widely used as a screening test, and expanded carrier screening for autosomal and X-linked recessive conditions for more than a hundred conditions is available to couples for testing before and during pregnancy. These are most typically available as a commercial test. The purpose of reproductive genetic screening is to facilitate autonomous reproductive choices...
December 7, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29177916/direct-to-consumer-genetic-testing-law-and-policy-concerns-in-ireland
#15
Aisling de Paor
BACKGROUND: With rapid scientific and technological advances, the past few years has witnessed the emergence of a new genetic era and a growing understanding of the genetic make-up of human beings. These advances have propelled the introduction of companies offering direct to consumer (DTC) genetic testing, which facilitates the direct provision of such tests to consumers, (for example, via the internet). Although DTC genetic testing offers benefits by enhancing consumer accessibility to such technology, promoting proactive healthcare and increasing genetic awareness, it presents a myriad of challenges, from an ethical, legal and regulatory perspective...
November 25, 2017: Irish Journal of Medical Science
https://www.readbyqxmd.com/read/29173101/advancing-global-precision-medicine-an-overview-of-genomic-testing-and-counseling-services-in-malaysia
#16
Angeliki Balasopoulou, Foong-Ming Mooy, Darrol J Baker, Christina Mitropoulou, Efthymios Skoufas, Awang Bulgiba, Theodora Katsila, George P Patrinos
Precision medicine, genomic and diagnostic services are no longer limited to developed countries. This broadening in geography of biomarker applications and omics diagnostics also demands empirical study of implementation, diagnostic testing, and counseling practices in the field. For example, the Malaysian population has large ethnic diversity and high prevalence of genetic disorders such as hemoglobinopathies and metabolic disorders. Increased morbidity and mortality from such diseases have a direct impact on society and health system sustainability and for this, decision-making becomes of outmost importance...
December 2017: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/29153336/-genetics-and-family-medicine
#17
R Bugarín-González, Á Carracedo
There have been spectacular advances in genetics in the last decades. Their implications in medicine have been so relevant that the family doctor cannot ignore them. However, interestingly, our specialty training program has hardly any contents related to this discipline. For this reason, several publications have warned of the need to correct this deficit and to determine the knowledge, skills and abilities in genetics that should be acquired by family physicians. It is considered that, in addition to some general concepts, we must have training related to genetic testing, genetic counselling, aspects related to hereditary cancers, and to be aware of the ethical and legal limits of genetic information...
January 2018: Semergen
https://www.readbyqxmd.com/read/29135293/-from-the-hallervorden-spatz-eponym-to-the-molecular-terminology
#18
Ferenc Garzuly
INTRODUCTION AND AIM: A combination of Niemann-Pick- and Hallervorden-Spatz diseases led to the death of a 17-year-old boy in 1994. Genetic counseling necessitated further investigations in 2017. Meanwhile, the nomenclature of Hallervorden-Spatz disease has been abandoned. The author analyze the reasons for this change. METHOD: Professional activities of Hallervorden and Spatz during and after the Nazi euthanasia program are presented. Also, the scientific efforts that led to the discovery of the genetic background of the disease and ultimately to its new name are highlighted...
October 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/29120067/review-of-patient-decision-making-factors-and-attitudes-regarding-preimplantation-genetic-diagnosis
#19
REVIEW
M C Genoff Garzon, L R Rubin, M Lobel, J Stelling, L 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/29105053/conversations-with-french-medical-geneticists-a-personal-perspective-on-the-origins-and-early-years-of-medical-genetics-in-france
#20
REVIEW
P S Harper
The history of the beginnings of medical genetics in France is discussed, based on the personal perspective provided by recorded interviews with 16 early French workers in the field. The weakness of French genetics overall up to the beginning of the Second World War meant that post-war medical genetics had to start from new, with its origins largely derived from the medical fields of child health and the prevention of genetic disorders, rather than from basic science. The key people responsible for initiating these developments were Robert Debré and Maurice Lamy at Hôpital Necker in Paris and those interviewed included a number of their colleagues and successors, including Jean Frézal, Pierre Maroteaux, Josué Feingold, André and Joelle Boué, and Jean-Claude Kaplan...
November 3, 2017: Clinical Genetics
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