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Genetic testing ethics

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https://www.readbyqxmd.com/read/28548558/the-role-of-genetic-testing-in-epilepsy-diagnosis-and-management
#1
Yvonne G Weber, Saskia Biskup, Katherine L Helbig, Sarah von Spiczak, Holger Lerche
Epilepsy is a common neurological disorder characterized by recurrent unprovoked seizures. More than 500 epilepsy-associated genes have been described in the literature. Most of these genes play an important role in neuronal excitability, cortical development or synaptic transmission. A growing number of genetic variations have implications on diagnosis and prognostic or therapeutic advice in terms of a personalized medicine. Area covered: The review presents the different forms of genetic epilepsies with respect to their underlying genetic and functional pathophysiology and aims to give advice for recommended genetic testing...
May 26, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28543738/crispr-editing-in-biological-and-biomedical-investigation
#2
Xing-Da Ju, Jing Xu, Zhong Sheng Sun
The CRISPR (clustered regularly interspaced short palindromic repeat)-Cas (CRISPR--associated protein) system, a prokaryotic RNA-based adaptive immune system against viral infection, is emerging as a powerful genome editing tool in broad research areas. To further improve and expand its functionality, various CRISPR delivery strategies have been tested and optimized, and key CRISPR system components such as Cas protein have been engineered with different purposes. Benefiting from more in-depth understanding and further development of CRISPR, versatile CRISPR-based platforms for genome editing have been rapidly developed to advance investigations in biology and biomedicine...
May 20, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28543657/ethical-principles-process-and-the-work-of-bioethics-commissions
#3
Daniel P Sulmasy
Shortly after the Presidential Commission for the Study of Bioethical Issues was constituted in 2010 and days before the commission members were to join a conference call to discuss possible topics for their deliberation, Craig Venter held a press conference announcing that his lab had created a synthetic chromosome for a species of mycoplasma and had inserted this genetic material into organisms of another species of mycoplasma (the genes of which had been deactivated), transforming the host species into the donor species...
May 2017: Hastings Center Report
https://www.readbyqxmd.com/read/28534296/anticipating-the-ethical-challenges-of-psychiatric-genetic-testing
#4
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
#5
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...
May 16, 2017: Practical Neurology
https://www.readbyqxmd.com/read/28501562/a-joint-venture-model-of-recontacting-in-clinical-genomics-challenges-for-responsible-implementation
#6
Sandi Dheensa, Daniele Carrieri, Susan Kelly, Angus Clarke, Shane Doheny, Peter Turnpenny, Anneke Lucassen Dphil
Advances in genomics often lead healthcare professionals (HCPs) to learn new information, e.g., about reinterpreted variants that could have clinical significance for patients seen previously. A question arises of whether HCPs should recontact these former patients. We present some findings interrogating the views of patients with a rare or undiagnosed condition about how such recontacting might be organised ethically and practically. Forty-one interviews with patients were analysed thematically. Participants suggested a 'joint venture' model in which efforts to recontact are shared with HCPs...
May 10, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28488681/practices-and-views-of-neurologists-regarding-the-use-of-whole-genome-sequencing-in-clinical-settings-a-web-based-survey
#7
Iris Jaitovich Groisman, Thierry Hurlimann, Amir Shoham, Béatrice Godard
The use of Whole-Genome Sequencing (WGS) in clinical settings has brought up a number of controversial scientific and ethical issues. The application of WGS is of particular relevance in neurology, as many conditions are difficult to diagnose. We conducted a worldwide, web-based survey to explore neurologists' views on the benefits of, and concerns regarding, the clinical use of WGS, as well as the resources necessary to implement it. Almost half of the 204 neurologists in the study treated mostly adult patients (48%), while the rest mainly children (37...
May 10, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28488677/uninformed-consent-in-nutrigenomic-research
#8
A Cecile Jw Janssens, Eline M Bunnik, Wylie Burke, Maartje Hn Schermer
Genetic testing for personalizing diet and wellness programs is performed without extensive counseling that informs about the potential implications of knowing one's genotype status. Genetic counseling seems redundant for genes that impact the effect of diet on biomarkers such as cholesterol and blood pressure, but the same genes may have pleiotropic effects that cannot be ignored. A well-known example is the APOE gene, which is implicated in cholesterol regulation and is a major risk factor for Alzheimer's disease...
May 10, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28484805/-practical-guidelines-for-genetic-testing-in-cardiovascular-diseases
#9
W Reinhard, T Trenkwalder, H Schunkert
In the last decade, genetic testing for cardiovascular disorders has become more and more relevant. Progress in molecular genetics has led to new opportunities for diagnostics, improved risk prediction and could lead to novel therapeutic approaches. Genetic diagnostic testing is relevant for both confirming a diagnosis as well as deciding on therapeutic consequences, if applicable. Furthermore, predictive testing in family members for specific cardiovascular diseases is now a standard procedure in holistic patient management...
May 8, 2017: Herz
https://www.readbyqxmd.com/read/28476180/transferring-embryos-with-genetic%C3%A2-anomalies-detected-in-preimplantation-testing-an-ethics-committee-opinion
#10
(no author information available yet)
Patient requests for transfer of embryos with genetic anomalies linked to serious health-affecting disorders detected in preimplantation testing are rare but do exist. This Opinion sets out the possible rationales for a provider's decision to assist or decline to assist in such transfers. The Committee concludes in most clinical cases it is ethically permissible to assist or decline to assist in transferring such embryos. In circumstances in which a child is highly likely to be born with a life-threatening condition that causes severe and early debility with no possibility of reasonable function, provider transfer of such embryos is ethically problematic and highly discouraged...
May 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28460040/the-acceptability-of-stem-cell-based-fertility-treatments-for-different-indications
#11
S Hendriks, E A F Dancet, R Vliegenthart, S Repping
STUDY QUESTION: What is the acceptability of using stem cell-based fertility treatments (SCFT) for different indications according to gynaecologists and the general public? SUMMARY ANSWER: The majority of gynaecologists and the general public accept SCFT for the indications female or male infertility in young heterosexual couples, and female infertility in single women and same-sex couples. WHAT IS KNOWN ALREADY: SCFT could result in genetic parenthood for intended parents with indications that cannot be treated using currently available methods, such as being in a same-sex relationship or female post-menopausal age...
April 28, 2017: Molecular Human Reproduction
https://www.readbyqxmd.com/read/28449382/current-use-of-chromosomal-microarray-by-australian-paediatricians-and-implications-for-the-implementation-of-next-generation-sequencing
#12
Victoria McKay, Daryl Efron, Elizabeth E Palmer, Susan M White, Chris Pearson, Margie Danchin
AIM: Chromosomal microarray (CMA) is an important diagnostic test for children with multiple congenital anomalies or certain developmental behavioural problems suggestive of an underlying genetic diagnosis. However, there are medical and ethical complexities to its use and few Australian policies to guide practice. We aimed to describe the current practice of Australian paediatricians in relation to CMA testing. We hypothesised that there are knowledge gaps in their use of CMA. METHODS: Online survey completed between September 2015 and January 2016 by paediatricians in secondary care settings...
April 27, 2017: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/28446182/improving-preimplantation-genetic-diagnosis-pgd-reliability-by-selection-of-sperm-donor-with-the-most-informative-haplotype
#13
Mira Malcov, Veronica Gold, Sagit Peleg, Tsvia Frumkin, Foad Azem, Ami Amit, Dalit Ben-Yosef, Yuval Yaron, Adi Reches, Shimi Barda, Sandra E Kleiman, Leah Yogev, Ron Hauser
BACKGROUND: The study is aimed to describe a novel strategy that increases the accuracy and reliability of PGD in patients using sperm donation by pre-selecting the donor whose haplotype does not overlap the carrier's one. METHODS: A panel of 4-9 informative polymorphic markers, flanking the mutation in carriers of autosomal dominant/X-linked disorders, was tested in DNA of sperm donors before PGD. Whenever the lengths of donors' repeats overlapped those of the women, additional donors' DNA samples were analyzed...
April 26, 2017: Reproductive Biology and Endocrinology: RB&E
https://www.readbyqxmd.com/read/28439532/recruiting-to-preclinical-alzheimer-s-disease-clinical-trials-through-registries
#14
Joshua D Grill
Participant registries are repositories of individuals who have expressed willingness to learn about studies for which they may be eligible. Registries are increasingly being utilized to improve recruitment to preclinical Alzheimer's disease (AD) clinical trials, which require large screening efforts to identify adequate numbers of participants who meet enrollment criteria. Recruiting to preclinical AD trials from registries is made more efficient through registry collection of data that permits exclusion of those who will not be eligible and identifies individuals most likely to qualify for trials...
June 2017: Alzheimer's & Dementia: Translational Research & Clinical Interventions
https://www.readbyqxmd.com/read/28436389/ethical-considerations-for-deep-brain-stimulation-trials-in-patients-with-early-onset-alzheimer-s-disease
#15
John Noel M Viaña, Merlin Bittlinger, Frederic Gilbert
Several studies of deep brain stimulation (DBS) of the fornix or the nucleus basalis of Meynert have been recently conducted in people with Alzheimer's disease, with several recruiting participants <65 and thus have early-onset Alzheimer's disease (EOAD). Although EOAD accounts for less than 5.5% of AD cases, ethical considerations must still be made when performing DBS trials including these participants since a portion of people with EOAD, especially those possessing autosomal-dominant mutations, have an atypical and more aggressive disease progression...
2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28413896/congenital-malformations-palliative-care-and-postnatal-redirection-to-more-intensive-treatment-a-review-at-a-swiss-tertiary-center
#16
Ulrich Pfeifer, Deborah Gubler, Eva Bergstraesser, Dirk Bassler
PURPOSE: The so-called lethal malformations pose ethical challenges. Most affected fetuses die before or at birth. Live-born neonates commonly receive palliative care. If the postnatal course is better than expected, redirection towards more treatment may occur. We aimed to analyze this in a Swiss patient cohort. MATERIALS AND METHODS: Over 6 years, fetal malformation was suspected in 1113 cases. We identified patients prenatally assigned to palliative care, assessed pre- and postnatal diagnoses, and outcomes...
April 16, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28409480/genetic-testing-for-opioid-pain-management-a-primer
#17
Deepti Agarwal, Mercy A Udoji, Andrea Trescot
Patients see their primary care physicians (PCPs) for a variety of medical conditions, chronic pain being one of the most common. An increased use of prescription medications (especially opioids) has led to an increase in adverse drug reactions and has heightened our awareness of the variability in response to medications. Opioids and other pain adjuvants are widely used, and drug-drug interactions involving these analgesics can be problematic and potentially lethal. Pharmacogenetics has improved our understanding of drug efficacy and response, opened doors to individual tailoring of medical management, and created a series of ethical and economic considerations...
April 13, 2017: Pain and Therapy
https://www.readbyqxmd.com/read/28399664/ethical-considerations-surrounding-germline-next-generation-sequencing-of-children-with-cancer
#18
REVIEW
Liza-Marie Johnson, Kayla V Hamilton, Jessica M Valdez, Esther Knapp, Justin N Baker, Kim E Nichols
The advent of next-generation sequencing (NGS) has introduced an exciting new era in biomedical research. NGS forms the foundation of current genetic testing approaches, including targeted gene panel testing, as well as more comprehensive whole-exome and whole-genome sequencing. Together, these approaches promise to provide critical insights into the understanding of health and disease. However, with NGS testing come many ethical questions and concerns, particularly when testing involves children. These concerns are especially relevant for children with cancer, where the testing of tumor and germline tissues is increasingly being incorporated into clinical care...
May 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28398847/traceback-a-proposed-framework-to-increase-identification-and-genetic-counseling-of-brca1-and-brca2-mutation-carriers-through-family-based-outreach
#19
Goli Samimi, Marcus Q Bernardini, Lawrence C Brody, Charlisse F Caga-Anan, Ian G Campbell, Georgia Chenevix-Trench, Fergus J Couch, Michael Dean, Joanne A de Hullu, Susan M Domchek, Ronny Drapkin, Heather Spencer Feigelson, Michael Friedlander, Mia M Gaudet, Marline G Harmsen, Karen Hurley, Paul A James, Janice S Kwon, Felicitas Lacbawan, Stephanie Lheureux, Phuong L Mai, Leah E Mechanic, Lori M Minasian, Evan R Myers, Mark E Robson, Susan J Ramus, Lisa F Rezende, Patricia A Shaw, Thomas P Slavin, Elizabeth M Swisher, Masataka Takenaka, David D Bowtell, Mark E Sherman
In May 2016, the Division of Cancer Prevention and the Division of Cancer Control and Population Sciences, National Cancer Institute, convened a workshop to discuss a conceptual framework for identifying and genetically testing previously diagnosed but unreferred patients with ovarian cancer and other unrecognized BRCA1 or BRCA2 mutation carriers to improve the detection of families at risk for breast or ovarian cancer. The concept, designated Traceback, was prompted by the recognition that although BRCA1 and BRCA2 mutations are frequent in women with ovarian cancer, many such women have not been tested, especially if their diagnosis predated changes in testing guidelines...
April 11, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28361899/towards-a-humanized-mouse-model-of-liver-stage-malaria-using-ectopic-artificial-livers
#20
Shengyong Ng, Sandra March, Ani Galstian, Nil Gural, Kelly R Stevens, Maria M Mota, Sangeeta N Bhatia
The malaria liver stage is an attractive target for antimalarial development, and preclinical malaria models are essential for testing such candidates. Given ethical concerns and costs associated with non-human primate models, humanized mouse models containing chimeric human livers offer a valuable alternative as small animal models of liver stage human malaria. The best available human liver chimeric mice rely on cellular transplantation into mice with genetically engineered liver injury, but these systems involve a long and variable humanization process, are expensive, and require the use of breeding-challenged mouse strains which are not widely accessible...
March 31, 2017: Scientific Reports
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