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Ethics of Genetic Counseling

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https://www.readbyqxmd.com/read/29305293/beyond-screening-for-chromosomal-abnormalities-advances-in-non-invasive-diagnosis-of-single-gene-disorders-and-fetal-exome-sequencing
#1
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...
January 2, 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
#2
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
#3
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
#4
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
#5
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...
November 27, 2017: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/29153336/-genetics-and-family-medicine
#6
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...
November 16, 2017: Semergen
https://www.readbyqxmd.com/read/29135293/-from-the-hallervorden-spatz-eponym-to-the-molecular-terminology
#7
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
#8
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/29105053/conversations-with-french-medical-geneticists-a-personal-perspective-on-the-origins-and-early-years-of-medical-genetics-in-france
#9
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
https://www.readbyqxmd.com/read/29075948/national-society-of-genetic-counselors-code-of-ethics
#10
(no author information available yet)
This document is the revised Code of Ethics of the National Society of Genetic Counselors (NSGC) that was adopted in April 2017 after majority vote of the full membership of the NSGC. The explication of the revisions is published in this volume of the Journal of Genetic Counseling. This is the fourth revision to the Code of Ethics since its original adoption in 1992.
October 27, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29075947/national-society-of-genetic-counselors-code-of-ethics-explication-of-2017-revisions
#11
Leigha Senter, Robin L Bennett, Anne C Madeo, Sarah Noblin, Kelly E Ormond, Kami Wolfe Schneider, Kelli Swan, Alice Virani
The Code of Ethics (COE) of the National Society of Genetic Counselors (NSGC) was adopted in 1992 and was later revised and adopted in 2006. In 2016, the NSGC Code of Ethics Review Task Force (COERTF) was convened to review the COE. The COERTF reviewed ethical codes written by other professional organizations and suggested changes that would better reflect the current and evolving nature of the genetic counseling profession. The COERTF received input from the society's legal counsel, Board of Directors, and members-at-large...
October 27, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28967605/-22q11-2%C3%A2-microdeletion-syndrome-analysis-of-the-care-pathway-before-the-genetic-diagnosis
#12
T Ingrao, L Lambert, M Valduga, G Bosser, E Albuisson, B Leheup
BACKGROUND: 22q11.2 deletion syndrome (22q11.2DS) is a very broad phenotypic spectrum disorder. It can affect many organs or systems. 22q11.2DS is the most common microdeletion syndrome in humans, with a prevalence ranging from one in every 2000 to one in 4000 newborns. It seems to be more prevalent than reported and under-recognized or undiagnosed because of its inherent clinical variability and heterogeneity. In France, 15,000 patients may be affected by this disease, more than half without knowing it...
November 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
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/28903733/increasing-confidence-and-changing-behaviors-in-primary-care-providers-engaged-in-genetic-counselling
#14
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/28813239/how-should-clinicians-counsel-a-woman-with-a-strong-family-history-of-early-onset-alzheimer-s-disease-about-her-pregnancy
#15
Marianna V Mapes, Barbara M O'Brien, Louise P King
Counseling patients regarding the benefits, harms, and dilemmas of genetic testing is one of the greatest ethical challenges facing reproductive medicine today. With or without test results, clinicians grapple with how to communicate potential genetic risks as patients weigh their reproductive options. Here, we consider a case of a woman with a strong family history of early-onset Alzheimer's disease (EOAD). She is early in her pregnancy and unsure about learning her own genetic status. We address the ethical ramifications of each of her options, which include genetic testing, genetic counseling, and termination versus continuation of the pregnancy...
July 1, 2017: AMA Journal of Ethics
https://www.readbyqxmd.com/read/28714147/communication-of-information-about-genetic-risks-putting-families-at-the-center
#16
Álvaro Mendes, Alison Metcalfe, Milena Paneque, Liliana Sousa, Angus J Clarke, Jorge Sequeiros
Genetic information is a family affair. With the expansion of genomic technologies, many new causal genes and variants have been established and the potential for molecular diagnoses increased, with implications not only for patients but also their relatives. The need for genetic counseling and intrafamilial circulation of information on genetic risks grew accordingly. Also, the amount and, particularly, the complexity of the information to convey multiplied. Sharing information about genetic risks with family members, however, has never been an easy matter and often becomes a source of personal and familial conflicts and distress...
July 16, 2017: Family Process
https://www.readbyqxmd.com/read/28697779/ethical-social-and-cultural-issues-related-to-clinical-genetic-testing-and-counseling-in-low-and-middle-income-countries-protocol-for-a-systematic-review
#17
Adrina Zhong, Benedict Darren, Helen Dimaras
BACKGROUND: There has been little focus in the literature on how to build genetic testing and counseling services in low- and middle-income countries in a responsible, ethical, and culturally appropriate manner. It is unclear to what extent this area is being explored and what form further research should take. The proposed knowledge synthesis aims to fill this gap in knowledge and mine the existing data to determine the breadth of work in this area and identify ethical, social, and cultural issues that have emerged...
July 11, 2017: Systematic Reviews
https://www.readbyqxmd.com/read/28654730/promises-pitfalls-and-practicalities-of-prenatal-whole-exome-sequencing
#18
Sunayna Best, Karen Wou, Neeta Vora, Ignatia B Van der Veyver, Ronald Wapner, Lyn S Chitty
Prenatal genetic diagnosis provides information for pregnancy and perinatal decision-making and management. In several small series, prenatal whole exome sequencing (WES) approaches have identified genetic diagnoses when conventional tests (karyotype and microarray) were not diagnostic. Here, we review published prenatal WES studies and recent conference abstracts. Thirty-one studies were identified, with diagnostic rates in series of five or more fetuses varying between 6.2% and 80%. Differences in inclusion criteria and trio versus singleton approaches to sequencing largely account for the wide range of diagnostic rates...
June 27, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28534296/anticipating-the-ethical-challenges-of-psychiatric-genetic-testing
#19
REVIEW
Paul S Appelbaum, Shawna Benston
PURPOSE OF REVIEW: Genetic testing for mental illness is likely to become increasingly prevalent as the science behind it is refined. This article identifies anticipated ethical challenges for patients, psychiatrists, and genetic counselors and makes recommendations for addressing them. RECENT FINDINGS: Many of the ethical challenges of psychiatric genetic testing are likely to stem from failures to comprehend the nature and implications of test results. Recent studies have identified gaps in the knowledge base of psychiatrists and genetic counselors, which limit their abilities to provide patients with appropriate education...
July 2017: Current Psychiatry Reports
https://www.readbyqxmd.com/read/28512206/genetic-testing-and-reproductive-choice-in-neurological-disorders
#20
REVIEW
Omay Lee, Mary Porteous
Genetic testing is increasingly important for investigating suspected inherited neurological conditions. A genetic diagnosis can have a huge impact on patients and also their families. It is important for neurologists to appreciate the presymptomatic and prenatal testing options available to patients and their at-risk relatives once a genetic disorder is diagnosed. Asymptomatic family members can experience considerable psychological distress from the knowledge that they might have inherited a neurodegenerative condition...
August 2017: Practical Neurology
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