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Genetic testing ethics

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https://www.readbyqxmd.com/read/27910804/sudden-cardiac-death-a-nationwide-cohort-study-among-the-young
#1
Bjarke Risgaard
Sudden cardiac death (SCD) is a tragic event affecting millions of individuals worldwide. Although several studies have investigated the epidemiology of SCD, these studies may have been affected by reporting and referral biases, which are reflected in the very different incidence rates and causes of deaths that have previously been reported. Among SCD victims aged < 36 years, inherited cardiac diseases are well known to play an important role. However, the extent to which inherited cardiac diseases also play a role in SCD victims aged < 50 years has not been completely described...
December 2016: Danish Medical Journal
https://www.readbyqxmd.com/read/27903825/synthetic-biology-routes-to-bio-artificial-intelligence
#2
REVIEW
Darren N Nesbeth, Alexey Zaikin, Yasushi Saka, M Carmen Romano, Claudiu V Giuraniuc, Oleg Kanakov, Tetyana Laptyeva
The design of synthetic gene networks (SGNs) has advanced to the extent that novel genetic circuits are now being tested for their ability to recapitulate archetypal learning behaviours first defined in the fields of machine and animal learning. Here, we discuss the biological implementation of a perceptron algorithm for linear classification of input data. An expansion of this biological design that encompasses cellular 'teachers' and 'students' is also examined. We also discuss implementation of Pavlovian associative learning using SGNs and present an example of such a scheme and in silico simulation of its performance...
November 30, 2016: Essays in Biochemistry
https://www.readbyqxmd.com/read/27900742/-precision-nursing-individual-based-knowledge-translation
#3
Li-Chi Chiang, Mei-Ling Yeh, Sui-Lung Su
U.S. President Obama announced a new era of precision medicine in the Precision Medicine Initiative (PMI). This initiative aims to accelerate the progress of personalized medicine in light of individual requirements for prevention and treatment in order to improve the state of individual and public health. The recent and dramatic development of large-scale biologic databases (such as the human genome sequence), powerful methods for characterizing patients (such as genomics, microbiome, diverse biomarkers, and even pharmacogenomics), and computational tools for analyzing big data are maximizing the potential benefits of precision medicine...
December 2016: Hu Li za Zhi the Journal of Nursing
https://www.readbyqxmd.com/read/27899345/ethics-of-genetic-testing-and-research-in-sport-a-position-statement-from-the-australian-institute-of-sport
#4
Nicole Vlahovich, Peter A Fricker, Matthew A Brown, David Hughes
As Australia's peak high-performance sport agency, the Australian Institute of Sport (AIS) has developed this position statement to address the implications of recent advances in the field of genetics and the ramifications for the health and well-being of athletes. Genetic testing has proven of value in the practice of clinical medicine. There are, however, currently no scientific grounds for the use of genetic testing for athletic performance improvement, sport selection or talent identification. Athletes and coaches should be discouraged from using direct-to-consumer genetic testing because of its lack of validation and replicability and the lack of involvement of a medical practitioner in the process...
November 29, 2016: British Journal of Sports Medicine
https://www.readbyqxmd.com/read/27884969/ethics-knowledge-of-recent-paediatric-residency-graduates-the-role-of-residency-ethics-curricula
#5
Jennifer C Kesselheim, Julie Najita, Debra Morley, Elizabeth Bair, Steven Joffe
OBJECTIVE: To evaluate the relationship between recently trained paediatricians' ethics knowledge and exposure to a formal ethics or professionalism curriculum during residency. METHODS: We conducted a cross-sectional survey of recently trained paediatricians which included a validated 23-item instrument called the Test of Residents' Ethics Knowledge for Pediatrics. The sample included paediatricians who completed medical school in 2006-2008, whose primary specialty was paediatrics or a paediatric subspecialty, and who completed paediatric residency training in 2010-2011...
December 2016: Journal of Medical Ethics
https://www.readbyqxmd.com/read/27852683/potential-of-human-twin-embryos-generated-by-embryo-splitting-in-assisted-reproduction-and-research
#6
REVIEW
Laila Noli, Caroline Ogilvie, Yacoub Khalaf, Dusko Ilic
BACKGROUND: Embryo splitting or twinning has been widely used in veterinary medicine over 20 years to generate monozygotic twins with desirable genetic characteristics. The first human embryo splitting, reported in 1993, triggered fierce ethical debate on human embryo cloning. Since Dolly the sheep was born in 1997, the international community has acknowledged the complexity of the moral arguments related to this research and has expressed concerns about the potential for reproductive cloning in humans...
November 16, 2016: Human Reproduction Update
https://www.readbyqxmd.com/read/27849442/to-genotype-or-phenotype-for-personalized-medicine-cyp450-drug-metabolizing-enzyme-genotype-phenotype-concordance-and-discordance-in-the-ecuadorian-population
#7
Fernando De Andrés, Santiago Terán, Francisco Hernández, Enrique Terán, Adrián LLerena
Genetic variations within the cytochrome P450 (CYP450) superfamily of drug metabolizing enzymes confer substantial person-to-person and between-population differences in pharmacokinetics, and by extension, highly variable clinical effects of medicines. In this context, "personalized medicine," "precision medicine," and "stratified medicine" are related concepts attributed to what is essentially targeted therapeutics and companion diagnostics, aimed at improving safety and effectiveness of health interventions...
November 16, 2016: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/27822876/leaves-imitate-trees-minnesota-hmong-concepts-of-heredity-and-applications-to-genomics-research
#8
Kathleen A Culhane-Pera, MaiKia Moua, Pachia Vue, Kang Xiaaj, May Xia Lo, Robert J Straka
Historically, Hmong refugees in the USA were distrustful of Western medicine, medicines, and medical research due to concerns about harm and experimentation. Current Hmong concerns about genomics research are not well known. Our research aims were to identify cultural and ethical issues about conducting genomic studies in the Hmong community. Using a community-based participatory action process, the West Side Hmong Genomics Research Board conducted a qualitative exploratory research study that included semistructured interviews with five Hmong key informants and five focus groups with 42 Hmong adults near Saint Paul, Minnesota...
November 7, 2016: Journal of Community Genetics
https://www.readbyqxmd.com/read/27818635/pharmacogenetics-and-predictive-testing-of-drug-hypersensitivity-reactions
#9
REVIEW
Ruwen Böhm, Ingolf Cascorbi
Adverse drug reactions adverse drug reaction (ADR) occur in approximately 17% of patients. Avoiding ADR is thus mandatory from both an ethical and an economic point of view. Whereas, pharmacogenetics changes of the pharmacokinetics may contribute to the explanation of some type A reactions, strong relationships of genetic markers has also been shown for drug hypersensitivity belonging to type B reactions. We present the classifications of ADR, discuss genetic influences and focus on delayed-onset hypersensitivity reactions, i...
2016: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/27763635/genetics-genomics-education-for-nongenetic-health-professionals-a-systematic-literature-review
#10
Divya Talwar, Tung-Sung Tseng, Margaret Foster, Lei Xu, Lei-Shih Chen
PURPOSE: The completion of the Human Genome Project has enhanced avenues for disease prevention, diagnosis, and management. Owing to the shortage of genetic professionals, genetics/genomics training has been provided to nongenetic health professionals for years to establish their genomic competencies. We conducted a systematic literature review to summarize and evaluate the existing genetics/genomics education programs for nongenetic health professionals. METHODS: Five electronic databases were searched from January 1990 to June 2016...
October 20, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27744538/disclosing-huntington-s-genetic-testing-results-in-the-context-of-intellectual-disability-and-guardianship-using-the-family-illness-narrative-to-guide-the-flow-of-information
#11
Mark B Warren, Kathryn M Schak
A diagnosis of Huntington's disease has broad social, vocational, reproductive and psychological implications. The ability to accurately diagnose the illness via genetic testing is not new. However, given a persistent lack of robustly effective interventions, it remains an area of ethical concern. The difficulty is compounded in cases of intellectual disability. This paper presents a case of genetic testing for Huntington's disease conducted on a patient with intellectual disability with guardian consent, but without the patient's direct knowledge and how the family illness narrative and psychiatric care were employed in the eventual disclosure of the patient's diagnosis and subsequent management...
October 15, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27732785/noninvasive-prenatal-dna-testing-the-vanguard-of-genomic-medicine
#12
Lisa Hui, Diana W Bianchi
Noninvasive prenatal DNA testing is the vanguard of genomic medicine. In only four years, this screening test has revolutionized prenatal care globally and opened up new prospects for personalized medicine for the fetus. There are widespread implications for increasing the scope of human genetic variation that can be detected before birth, and for discovering more about materno-fetal and placental biology. These include an urgent need to develop pretest education for all pregnant women and consistent posttest management recommendations for those with discordant test results...
October 10, 2016: Annual Review of Medicine
https://www.readbyqxmd.com/read/27704392/ancestry-testing-and-the-practice-of-genetic-counseling
#13
Brianne E Kirkpatrick, Misha D Rashkin
Ancestry testing is a home DNA test with many dimensions; in some cases, the implications and outcomes of testing cross over into the health sphere. Common reasons for seeking ancestry testing include determining an estimate of customer's ethnic background, identifying genetic relatives, and securing a raw DNA data file that can be used for other purposes. As the ancestry test marketplace continues to grow, and third-party vendors empower the general public to analyze their own genetic material, the role of the genetic counselor is likely to evolve dramatically...
October 4, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27695660/psychiatric-genetics-in-child-custody-proceedings-ethical-legal-and-social-issues
#14
Maya Sabatello, S Appelbaum
This paper considers the ethical, legal, and social issues raised by the prospect of increasing use of psychiatric genetic data in child custody litigation. Although genetic tests cannot currently confirm a parent or child's psychiatric diagnosis, it is likely that as relevant findings emerge, they will be introduced in family courts to challenge parental capacity. Here, we draw on three projected, but plausible, scenarios for obtaining psychiatric data about parents -- imposed genetic testing, access to medical records, and genetic theft -- then consider the use of psychiatric genetic data of children, to highlight the issues that judges, child custody evaluators, and clinicians who may provide treatment for parents or children with mental health issues will need to consider...
September 2016: Current Genetic Medicine Reports
https://www.readbyqxmd.com/read/27687585/current-state-of-genomic-policies-in-healthcare-among-eu-member-states-results-of-a-survey-of-chief-medical-officers
#15
W Mazzucco, R Pastorino, T Lagerberg, M Colotto, E d'Andrea, C Marotta, C Marzuillo, P Villari, A Federici, W Ricciardi, S Boccia
BACKGROUND: A need for a governance of genomics in healthcare among European Union (EU) countries arose during an international meeting of experts on public health genomics (PHG). We have conducted a survey on existing national genomic policies in healthcare among Chief Medical Officers (CMOs) of the 28 EU member states, plus Norway. METHODS: A questionnaire was sent to CMOs after a meeting on the policy implications of PHG held during the Italian presidency of the Council of EU in 2014...
September 29, 2016: European Journal of Public Health
https://www.readbyqxmd.com/read/27677414/advantages-of-expanded-universal-carrier-screening-what-is-at-stake
#16
Sanne van der Hout, Kim Ca Holtkamp, Lidewij Henneman, Guido de Wert, Wybo J Dondorp
Expanded universal carrier screening (EUCS) entails a twofold expansion of long-standing (preconception) carrier screening programmes: it not only allows the simultaneous screening of a large list of diseases ('expanded'), but also refers to a pan-ethnic screening offer ('universal'). Advocates mention three main moral advantages of EUCS as compared with traditional (targeted and/or ancestry-based) forms of carrier screening: EUCS will (1) maximise opportunities for autonomous reproductive choice by informing prospective parents about a much wider array of reproductive risks; (2) provide equity of access to carrier testing services; (3) reduce the risk of stigmatisation...
September 28, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27647774/am-i-my-family-s-keeper-disclosure-dilemmas-in-next-generation-sequencing
#17
Roel H P Wouters, Rhodé M Bijlsma, Margreet G E M Ausems, Johannes J M van Delden, Emile E Voest, Annelien L Bredenoord
Ever since genetic testing is possible for specific mutations, ethical debate has sparked on the question of whether professionals have a duty to warn not only patients but also their relatives that might be at risk for hereditary diseases. As next-generation sequencing (NGS) swiftly finds its way into clinical practice, the question who is responsible for conveying unsolicited findings to family members becomes increasingly urgent. Traditionally, there is a strong emphasis on the duties of the professional in this debate...
December 2016: Human Mutation
https://www.readbyqxmd.com/read/27631408/qualifying-choice-ethical-reflection-on-the-scope-of-prenatal-screening
#18
Greg Stapleton
In the near future developments in non-invasive prenatal testing (NIPT) may soon provide couples with the opportunity to test for and diagnose a much broader range of heritable and congenital conditions than has previously been possible. Inevitably, this has prompted much ethical debate on the possible implications of NIPT for providing couples with opportunities for reproductive choice by way of routine prenatal screening. In view of the possibility to test for a significantly broader range of genetic conditions with NIPT, the European Society of Human Genetics (ESHG) and American Society of Human Genetics (ASHG) recommend that, pending further debate, prenatal screening for reproductive choice should only be offered where concerning serious congenital conditions and childhood disorders...
September 8, 2016: Medicine, Health Care, and Philosophy
https://www.readbyqxmd.com/read/27615030/ethical-issues-in-the-evaluation-of-adults-with-suspected-genetic-neuromuscular-disorders
#19
REVIEW
Xiaowei Su, Peter B Kang, James A Russell, Zachary Simmons
Genetic testing is rapidly becoming an increasingly significant part of the diagnostic armamentarium of neuromuscular clinicians. Although technically easy to order, the results of such testing, whether positive or negative, have potentially enormous consequences for the individual tested and for family members. As a result, ethical considerations must be in the forefront of the physician's agenda when obtaining genetic testing. Informed consent is an important starting point for discussions between physicians and patients, but the counseling embedded in the informed consent process must be an ongoing part of subsequent interactions, including return of results and follow-up...
December 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27606958/ethical-issues-in-pediatric-genetic-testing-and-screening
#20
Jeffrey R Botkin
PURPOSE OF REVIEW: Developments in genetic test technologies enable a detailed analysis of the genomes of individuals across the range of human development from embryos to adults with increased precision and lower cost. These powerful technologies raise a number of ethical issues in pediatrics, primarily because of the frequent lack of clinical utility of genetic information, the generation of secondary results and questions over the proper scope of parental authority for testing. RECENT FINDINGS: Several professional organizations in the fields of genetics and pediatrics have published new guidance on the ethical, legal, and policy issues relevant to genetic testing in children...
December 2016: Current Opinion in Pediatrics
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