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Genetic testing ethics

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https://www.readbyqxmd.com/read/29342286/the-ethics-of-general-population-preventive-genomic-sequencing-rights-and-social-justice
#1
Clair Morrissey, Rebecca L Walker
Advances in DNA sequencing technology open new possibilities for public health genomics, especially in the form of general population preventive genomic sequencing (PGS). Such screening programs would sit at the intersection of public health and preventive health care, and thereby at once invite and resist the use of clinical ethics and public health ethics frameworks. Despite their differences, these ethics frameworks traditionally share a central concern for individual rights. We examine two putative individual rights-the right not to know, and the child's right to an open future-frequently invoked in discussions of predictive genetic testing, in order to explore their potential contribution to evaluating this new practice...
January 12, 2018: Journal of Medicine and Philosophy
https://www.readbyqxmd.com/read/29325614/ethical-issues-in-neurogenetics
#2
Wendy R Uhlmann, J Scott Roberts
Many neurogenetic conditions are inherited and therefore diagnosis of a patient will have implications for the patient's relatives and can raise ethical issues. Predictive genetic testing offers asymptomatic relatives the opportunity to determine their risk status for a neurogenetic condition, and professional guidelines emphasize patients' autonomy and informed, voluntary decision making. Beneficence and nonmaleficence both need to be considered when making decisions about disclosure and nondisclosure of genetic information and test results...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29308742/autoantibodies-and-gastrointestinal-symptoms-in-colombian-children-with-juvenile-idiopathic-arthritis
#3
Tatiana Gonzalez, Clara Malagon, Pilar Guarnizo, Angela Catalina Mosquera, Lorena Chila-Moreno, Consuelo Romero-Sanchez
BACKGROUND: Juvenile idiopathic arthritis (JIA) is the most common inflammatory joint disease in children. JIA and autoimmune inflammatory diseases of the gastrointestinal (GI) mucosa share common etiologic mechanisms, including genetic predisposition and environmental influences. OBJECTIVE: To determine the presence of autoantibodies associated with inflammatory diseases of the GI mucosa in patients with JIA and its relationship to GI symptoms. METHODOLOGY: In a cross-sectional study of patients with JIA, GI symptoms and autoantibody expression were evaluated with respect to their association with JIA disease activity indices...
January 7, 2018: Current Rheumatology Reviews
https://www.readbyqxmd.com/read/29307893/genomic-medicine-for-kidney-disease
#4
REVIEW
Emily E Groopman, Hila Milo Rasouly, Ali G Gharavi
Technologies such as next-generation sequencing and chromosomal microarray have advanced the understanding of the molecular pathogenesis of a variety of renal disorders. Genetic findings are increasingly used to inform the clinical management of many nephropathies, enabling targeted disease surveillance, choice of therapy, and family counselling. Genetic analysis has excellent diagnostic utility in paediatric nephrology, as illustrated by sequencing studies of patients with congenital anomalies of the kidney and urinary tract and steroid-resistant nephrotic syndrome...
January 8, 2018: Nature Reviews. Nephrology
https://www.readbyqxmd.com/read/29305293/beyond-screening-for-chromosomal-abnormalities-advances-in-non-invasive-diagnosis-of-single-gene-disorders-and-fetal-exome-sequencing
#5
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/29300981/chromosome-screening-using-noninvasive-prenatal-testing-beyond-trisomy-21-what-to-screen-for-and-why-it-matters
#6
Kristien Hens
With the new and highly accurate noninvasive prenatal test (NIPT), new options for screening become available. I contend that the current state of the art of NIPT is already in need of a thorough ethical investigation and that there are different points to consider before any chromosomal or subchromosomal condition is added to the screening panel of a publicly funded screening program. Moreover, the application of certain ethical principles makes the inclusion of some conditions unethical in a privately funded scheme, even if such screening would enhance a woman's reproductive autonomy...
December 29, 2017: Journal of Medicine and Philosophy
https://www.readbyqxmd.com/read/29250907/patient-perspectives-on-the-use-of-categories-of-conditions-for-decision-making-about-genomic-carrier-screening-results
#7
Stephanie A Kraft, Carmit K McMullen, Kathryn M Porter, Tia L Kauffman, James V Davis, Jennifer L Schneider, Katrina A B Goddard, Benjamin S Wilfond
As expanded genome-scale carrier screening becomes increasingly prevalent, patients will face decisions about whether to receive results about a vast number of genetic conditions. Understanding patient preferences is important to meaningfully demonstrate the ethical goal of respect and support patient autonomy. We explore one possible way to elicit preferences by sorting conditions into categories, which may support patient decision making, but the extent to which categories are helpful is unknown. In the context of a randomized trial of genome sequencing for preconception carrier screening compared to usual care (single disease carrier testing), we interviewed 41 participants who had genome sequencing about their experience using a taxonomy of conditions to select categories of results to receive...
December 18, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29248130/guidance-statement-on-brca1-2-tumor-testing-in-ovarian-cancer-patients
#8
REVIEW
Ettore Capoluongo, Gillian Ellison, José Antonio López-Guerrero, Frederique Penault-Llorca, Marjolijn J L Ligtenberg, Susana Banerjee, Christian Singer, Eitan Friedman, Birgid Markiefka, Peter Schirmacher, Reinhard Büttner, Christi J van Asperen, Isabelle Ray-Coquard, Volker Endris, Suzanne Kamel-Reid, Natalie Percival, Jane Bryce, Benno Röthlisberger, Richie Soong, David Gonzalez de Castro
The approval, in 2015, of the first poly (adenosine diphosphate-ribose) polymerase inhibitor (PARPi; olaparib, Lynparza) for platinum-sensitive relapsed high-grade ovarian cancer with either germline or somatic BRCA1/2 deleterious mutations is changing the way that BRCA1/2 testing services are offered to patients with ovarian cancer. Ovarian cancer patients are now being referred for BRCA1/2 genetic testing for treatment decisions, in addition to familial risk estimation, and irrespective of a family history of breast or ovarian cancer...
June 2017: Seminars in Oncology
https://www.readbyqxmd.com/read/29233487/genetic-counselling-patient-education-and-informed-decision-making-in-the-genomic-era
#9
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/29221462/ethical-frameworks-for-obtaining-informed-consent-in-tumour-profiling-an-evidence-based-case-for-singapore
#10
Yasmin Bylstra, Tamra Lysaght, Jyothi Thrivikraman, Sangeetha Watson, Patrick Tan
BACKGROUND: Genomic profiling of malignant tumours has assisted clinicians in providing targeted therapies for many serious cancer-related illnesses. Although the characterisation of somatic mutations is the primary aim of tumour profiling for treatment, germline mutations may also be detected given the heterogenous origin of mutations observed in tumours. Guidance documents address the return of germline findings that have health implications for patients and their genetic relations...
December 8, 2017: Human Genomics
https://www.readbyqxmd.com/read/29196479/sleep-treatment-outcome-predictors-stop-pilot-study-a-protocol-for-a-randomised-controlled-trial-examining-predictors-of-change-of-insomnia-symptoms-and-associated-traits-following-cognitive-behavioural-therapy-for-insomnia-in-an-unselected-sample
#11
Dan Denis, Thalia C Eley, Fruhling Rijsdijk, Helena M S Zavos, Robert Keers, Colin A Espie, Annemarie I Luik, Isabella Badini, Sarah Derveeuw, Alvin Romero, John Hodsoll, Alice M Gregory
INTRODUCTION: Cognitive-behavioural therapy for insomnia (CBT-I) leads to insomnia symptom improvements in a substantial proportion of patients. However, not everyone responds well to this treatment, and it is unclear what determines individual differences in response. The broader aim of this work is to examine to what extent response to CBT-I is due to genetic and environmental factors. The purpose of this pilot study is to examine feasibility of a design to test hypotheses focusing on an unselected sample, that is, without selection on insomnia complaints, in order to plan a larger behavioural genetics study where most participants will likely not have an insomnia disorder...
December 1, 2017: BMJ Open
https://www.readbyqxmd.com/read/29188457/can-the-ability-to-adapt-to-exercise-be-considered-a-talent-and-if-so-can-we-test-for-it
#12
Craig Pickering, John Kiely
Talent identification (TI) is a popular and hugely important topic within sports performance, with an ever-increasing amount of resources dedicated to unveiling the next sporting star. However, at present, most TI processes appear to select high-performing individuals at the present point in time, as opposed to identifying those individuals with the greatest capacity to improve. This represents a potential inefficiency within the TI process, reducing its effectiveness. In this article, we discuss whether the ability to adapt favorably, and with a large magnitude, to physical training can be considered a talent, testing it against proposed criteria...
November 29, 2017: Sports Medicine—Open
https://www.readbyqxmd.com/read/29177916/direct-to-consumer-genetic-testing-law-and-policy-concerns-in-ireland
#13
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/29176389/contemporary-genetic-testing-in-inherited-cardiac-disease-tools-ethical-issues-and-clinical-applications
#14
Francesca Girolami, Giulia Frisso, Matteo Benelli, Lia Crotti, Maria Iascone, Ruggiero Mango, Cristina Mazzaccara, Kalliope Pilichou, Eloisa Arbustini, Benedetta Tomberli, Giuseppe Limongelli, Cristina Basso, Iacopo Olivotto
: Inherited cardiac diseases comprise a wide and heterogeneous spectrum of diseases of the heart, including the cardiomyopathies and the arrhythmic diseases in structurally normal hearts, that is, channelopathies. With a combined estimated prevalence of 3% in the general population, these conditions represent a relevant epidemiological entity worldwide, and are a major cause of cardiac morbidity and mortality in the young. The extraordinary progress achieved in molecular genetics over the last three decades has unveiled the complex molecular basis of many familial cardiac conditions, paving the way for routine use of gene testing in clinical practice...
January 2018: Journal of Cardiovascular Medicine
https://www.readbyqxmd.com/read/29173101/advancing-global-precision-medicine-an-overview-of-genomic-testing-and-counseling-services-in-malaysia
#15
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/29169204/newborn-genetic-screening-for-spinal-muscular-atrophy-in-the-uk-the-views-of-the-general-population
#16
Felicity K Boardman, Chloe Sadler, Philip J Young
BACKGROUND: Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder and a leading genetic cause of infant death worldwide. However, there is no routine screening program for SMA in the UK. Lack of treatments and the inability of screening tests to accurately predict disease severity are among the key reasons implementation of screening has faltered in the UK. With the recent release of the first therapy for SMA (Nusinersen), calls are being made for a reconsideration of this stance; however, very little is known about the views of the general public...
November 23, 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29159708/mainstreaming-genetics-in-palliative-care-barriers-and-suggestions-for-clinical-genetic-services
#17
A Dearing, N Taverner
Palliative healthcare professionals (PHCPs) frequently do not refer their eligible patients for genetic testing. After the death of the affected individual, clinically relevant information for family members is lost. In previous research, PHCPs stated that the end-of-life setting is not appropriate to discuss genetic issues. It is unclear if this has changed due to increasing awareness of genetics in the media and efforts to mainstream genetic testing. Semi-structured interviews of PHCPs were analysed by thematic analysis...
November 20, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/29153336/-genetics-and-family-medicine
#18
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/29149121/ethics-and-genetics-examining-a-crossroads-in-nursing-through-a-case-study%C3%A2
#19
Laura Curr Curr Beamer
BACKGROUND: The field of genetics and genomics is rapidly expanding, particularly in oncology. Genetics and genomics can lead to ethical concerns. Oncology nurses must balance the need for evidence-based oncology care with that of ethical care for patients and their family members. OBJECTIVES: The purpose of this article is to provide an overview of cancer genetics and ethics and their impact on oncology nurses, patients, and families. METHODS: A case study of familial adenomatous polyposis (FAP) is offered to illustrate the impact of a hereditary cancer syndrome on several generations of a family and ethical issues surrounding cancer genetics...
December 1, 2017: Clinical Journal of Oncology Nursing
https://www.readbyqxmd.com/read/29131714/understanding-variations-in-secondary-findings-reporting-practices-across-u-s-genome-sequencing-laboratories
#20
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
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