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Genetic Testing and Molecular Biomarkers

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https://www.readbyqxmd.com/read/28177781/-still-rather-hazy-at-present-citizens-and-physicians-views-on-returning-results-from-biobank-research-using-broad-consent
#1
Gaia Barazzetti, Samuele Cavalli, Lazare Benaroyo, Alain Kaufmann
AIMS: Informed consent and return of research results are among the most debated topics in the biobank literature. We discuss ethical, social, and policy issues associated with returning results in the context of biobanks using a broad consent approach, in the light of data from a qualitative survey of citizens' and physicians' views. MATERIALS AND METHODS: Data were collected through interviews and focus groups to investigate stakeholders' perspectives about a large-scale hospital-based biobank designed to foster biomedical research, including prospective genomics research, and "personalized" medicine...
February 8, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28146646/returning-results-in-biobank-research-global-trends-and-solutions
#2
Eva De Clercq, Jane Kaye, Susan M Wolf, Barbara A Koenig, Bernice S Elger
In many countries around the world, biobanks have become crucial resources for the conduct of biomedical research, facilitating many kinds of research, including international collaborations. The focus of this special issue is on a looming ethical issue that has become a focus of debate-the return of research results and incidental findings to biobank participants. Although the articles in this issue do not provide a final answer to the ethical, legal, and social dilemmas that arise in the context of the return of results, the intent of the collection is to approach this issue from multiple perspectives and within an international context spanning the United Kingdom, continental Europe including Eastern Europe, the United States, and the Middle East...
February 1, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28146641/which-results-to-return-subjective-judgments-in-selecting-medically-actionable-genes
#3
Gabriel Lázaro-Muñoz, John M Conley, Arlene M Davis, Anya E R Prince, R Jean Cadigan
BACKGROUND: Advances in genomics have led to calls for returning information about medically actionable genes (MAGs) to patients, research subjects, biobank participants, and through screening programs, the general adult population. Which MAGs are returned affects the harms and benefits of every genetic testing endeavor. Despite published recommendations of selection criteria for MAGs to return, scant data exist regarding how decision makers actually apply such criteria. METHODS: The process and criteria used by researchers when selecting MAGs for a preventive genomic sequencing program targeting the general adult population were examined...
February 1, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28140662/pediatric-issues-in-return-of-results-and-incidental-findings-weighing-autonomy-and-best-interests
#4
Ingrid A Holm
Nowhere are the ethical issues in genomic research more complex than in pediatrics. Balancing the sometime conflicting autonomy of the parent and the child, and the best interest of the family and the child, brings up many challenging issues. Addressing this balance, especially in the context of the child's developing maturity and comprehension, requires deep analysis and discussion. Issues discussed include the impact of genetic information on the family, parental versus the child's autonomy, the best interests of the child versus the family, potential limitations on the parents' right to know or not know information about their child, and changing role of the developing child in return of research results...
January 31, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28121471/confidentiality-in-biobanking-research-a-comparison-of-donor-and-nondonor-families-understanding-of-risks
#5
Laura A Siminoff, Maureen Wilson-Genderson, Maghboeba Mosavel, Laura Barker, Jennifer Trgina, Heather M Traino
AIMS: Confidentiality of personal identifiers potentially linking the genetic results from biobanking participants back to the donor and donor relatives is a concern. The risks associated with a breach of confidentiality should be ascertained when biobanks collect samples requiring the consent of a family decision maker (FDM) from deceased organ and tissue donors. This article explores FDM knowledge and opinions regarding risks associated with participation in biobanking research in the context of the Genotype-Tissue Expression (GTEx) Project...
January 25, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28118041/return-of-research-results-in-the-saudi-biobank-an-exploratory-survey
#6
Ghiath Alahmad, Kris Dierickx
BACKGROUND AND AIMS: There are many research biobanks in the world, including a small number in the Middle East. The Saudi biobank, one of the newly established biobanks, has just started to collect data and samples in 2016. METHODS: A survey was conducted to assess the opinions of stakeholders regarding the return of individual research results. A total of 180 adults from three different groups (researchers, physicians, and laypeople) participated in this cross-sectional study...
January 24, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28118036/-forward-thinking-in-u-s-biobanking
#7
R Jean Cadigan, Teresa P Edwards, Dragana Lassiter, Arlene M Davis, Gail E Henderson
AIMS: Do biobanks enact policies and plans that allow them to anticipate and respond to potential challenges? If a biobank has one such policy or plan, is it likely to have more? Using survey data from 456 U.S. biobanks, we assess four possible indicators of such "forward-thinking." METHODS: We present response frequencies and cross-tabulations regarding policies for return of results and ownership of specimens, and for having a formal business plan and a plan for what happens to specimens if the biobank closes...
January 24, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28118032/whose-biobank-should-biobanks-serve-research-interests-or-the-needs-for-personalized-medicine-analysis-of-the-hungarian-law
#8
Judit Sándor
AIMS: The law has struggled to justify the unilateral use of individual genomic data, as it could never quite fit either into the narrower data protection or the broader privacy frameworks. This article aims to explore this tension by examining rights and interests of biobank participants. METHOD: This article offers a legal analysis, by looking at how the biobank model fits into a privacy rights framework. The Hungarian law is the primary focus of analysis, but reference is made to international legal norms, as well...
January 24, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28207326/micro-rna-146a-but-not-irak1-is-associated-with-rheumatoid-arthritis-in-the-tunisian-population
#9
Hana Ben Hassine, Asma Boumiza, Rim Sghiri, Khadija Baccouche, Imen Boussaid, Ahlem Atig, Zahid Shakoor, Elyes Bouajina, Ramzi Zemni
BACKGROUND: Rheumatoid arthritis (RA) is characterized by the production of an array of proinflammatory cytokines through the nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κB) signaling pathway. Interleukin-1 receptor (IL-1R) and Toll-like receptors contain a common cytoplasmic motif the Toll/IL-1R (TIR) homology domain. This motif is required for NF-κB activation. IL-1R-associated kinase 1 (IRAK1) is a key adapter molecule recruited during the signaling cascade of the TIR...
February 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28207325/data-sharing-as-the-new-norm-what-about-the-people-part
#10
Katherine F Lambertson, Sharon F Terry
No abstract text is available yet for this article.
February 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28207324/is-serum-angiotensin-converting-enzyme-level-useful-for-determining-necroinflammatory-activity-in-chronic-hepatitis-b-infection
#11
Ahmet Tay, Fatih Albayrak, Sevilay Ozmen, Ayse Albayrak, Kemalettin Ozden
AIM: The purpose of this study was to investigate the relationship between the findings from liver biopsy and the serum angiotensin-converting enzyme (ACE) level to determine whether ACE might serve as a potential noninvasive sign of necroinflammatory activity in patients with Chronic Hepatitis B (CHB) infection. METHODS: A total of 54 CHB patients referred for liver biopsy were enrolled in the study. Serum ACE levels were determined photometrically with a kinetic test...
February 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28055231/effect-of-interleukin-27-genetic-variants-on-atrial-fibrillation-susceptibility
#12
Yu Chen, Jianhui Zeng, Rui Zhang, Linjun Zeng, Yajiao Li, Hong Wei, Qing Yang
AIM: Atrial fibrillation (AF) is the most common cardiac arrhythmia. No data are available on the association between the polymorphisms of interleukin-27 (IL-27) and AF in the Chinese Han population. This study was performed to determine if polymorphisms within the IL-27 gene are involved in the AF susceptibility. METHODS: Two hundred seventy AF patients and 303 healthy individuals were examined for two IL-27 gene polymorphisms (rs153109 and rs17855750) by polymerase chain reaction-restriction fragment length polymorphism methodology...
February 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28051879/wnt5a-promoter-methylation-is-associated-with-better-responses-and-longer-progression-free-survival-in-colorectal-cancer-patients-treated-with-5-fluorouracil-based-chemotherapy
#13
Guozhong Jiang, Jiangxin Lin, Weiwei Wang, Miaomiao Sun, Kuisheng Chen, Feng Wang
BACKGROUND: Aberrant activation of the canonical WNT or WNT/β-catenin signaling pathway plays a pivotal role in multiple types of cancers. WNT5A, a nontransforming WNT protein suppressing the Wnt/β-catenin signaling pathway, is frequently detected to be hypermethylated in colorectal cancer (CRC). In this study, we investigated the prognostic value of WNT5A methylation in human patients and its potential underlying molecular mechanisms in cultured human CRC cells. METHODS: We measured WNT5A mRNA level using qRT-PCR and DNA methylation using methylation-specific PCR (MSP) in HCT116, HT29, SW620, HCT8, LoVo, SW480, and Rko CRC cells...
February 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28005406/a-report-on-molecular-diagnostic-testing-for-inherited-retinal-dystrophies-by-targeted-genetic-analyses
#14
Hema L Ramkumar, Harini V Gudiseva, Kameron T Kishaba, John J Suk, Rohan Verma, Keerti Tadimeti, John A Thorson, Radha Ayyagari
AIM: To test the utility of targeted sequencing as a method of clinical molecular testing in patients diagnosed with inherited retinal degeneration (IRD). METHODS: After genetic counseling, peripheral blood was drawn from 188 probands and 36 carriers of IRD. Single gene testing was performed on each patient in a Clinical Laboratory Improvement Amendment (CLIA) certified laboratory. DNA was isolated, and all exons in the gene of interest were analyzed along with 20 base pairs of flanking intronic sequence...
February 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/27997221/design-and-validation-of-a-new-mlpa-based-assay-for-the-detection-of-rs1-gene-deletions-and-application-in-a-large-family-with-x-linked-juvenile-retinoschisis
#15
Annalisa Nicoletti, Lucia Ziccardi, Paolo Enrico Maltese, Sabrina Benedetti, Orazio Palumbo, Michelina Rendina, Leonardo D'Agruma, Benedetto Falsini, Xinjing Wang, Matteo Bertelli
AIMS: X-linked juvenile retinoschisis (XLRS) is a severe ocular disorder that can evolve to blindness. More than 200 different disease-causing mutations have been reported in the RS1 gene and approximately 10% of these are deletions. Since transmission is X-linked, males are always affected and females are usually carriers. The identification of female carriers is always important and poses a technical challenge. Therefore, we sought to develop a multiplex ligation dependent probe amplification (MLPA)-based method to identify deletions or duplications in this gene...
February 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/27991836/correlations-between-col2a-and-aggrecan-genetic-polymorphisms-and-the-risk-and-clinicopathological-features-of-intervertebral-disc-degeneration-in-a-chinese-han-population-a-case-control-study
#16
Yu Deng, Xin-Ti Tan, Qiang Wu, Xin Wang
OBJECTIVES: This case-control study was designed to evaluate the association of three COL2A1 single nucleotide polymorphism (SNPs) (rs1793953, rs2276454, and rs1793937) and Aggrecan variable number of tandem repeat (VNTR) polymorphisms with the risk and clinicopathological features of intervertebral disc degeneration (IVDD) in a Chinese Han population. MATERIALS AND METHODS: Data from 295 IVDD patients (case group) and 324 healthy volunteers (control group) were collected between January 2012 and December 2014...
February 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/27960071/association-between-tnf-%C3%AE-308g-a-polymorphism-and-risk-of-immune-thrombocytopenia-a-meta-analysis
#17
Jing Zhang, Qing-Hua Min, Yan-Mei Xu, Li-Bing Deng, Wei-Ming Yang, Yan Wang, Shu-Qi Li, Jing Li, Jing Lin, Jing Liu, Bo Huang, Fan Sun, Qiu-Fang Gao, Xin Wen, Xiao-Zhong Wang
OBJECTIVE: Previous studies have investigated the association between tumor necrosis factor-alpha (TNF-α) -308G/A polymorphism and risk of immune thrombocytopenia (ITP), but the reported results have been inconsistent. Thus, a systematic meta-analysis was performed to resolve this discrepancy. METHODS: Electronic databases and the cited references of the obtained published articles were manually searched. Quality assessment of each study was conducted using the Newcastle-Ottawa Scale (NOS)...
February 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/27936936/additional-evidence-supports-association-of-common-variants-in-col11a1-with-increased-risk-of-hip-osteoarthritis-susceptibility
#18
Jinhua Wang, Chen Zhang, Stephen G Wu, Chi Shang, Lun Huang, Tong Zhang, Wen Zhang, Yanping Zhang, Lei Zhang
OBJECTIVE: In a recent study single nucleotide polymorphisms (SNPs) in the COL11A1 gene were found to be associated with hip osteoarthritis (OA) among European populations. In this study, our aim was to identify common genetic variants in COL11A1 predisposing to primary hip OA in Han Chinese individuals. METHODS: We designed a case-control study that included 313 hip OA patients and 911 unrelated healthy controls. Fourteen tagging single-nucleotide polymorphisms (SNPs) were genotyped, and single SNP and haplotypic association analyses were performed...
February 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/27936930/different-contributions-of-cdkal1-kif21b-and-lrrk2-muc19-polymorphisms-to-sapho-syndrome-rheumatoid-arthritis-ankylosing-spondylitis-and-seronegative-spondyloarthropathy
#19
Nan Li, Junfen Ma, Kai Li, Changlong Guo, Liang Ming
OBJECTIVES: Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome, rheumatoid arthritis (RA), ankylosing spondylitis (AS), and seronegative spondyloarthropathy (SPA) are autoimmune diseases of unknown etiology, which share some clinical manifestations in common. Previous family-based investigations support genetic contributions to the susceptibility of these diseases. The current study evaluated whether three previously reported AS-associated single-nucleotide polymorphisms (SNPs), rs6908425 T>C in CDKAL1, rs11584383 T>C near KIF21B, and rs11175593 C>T near LRRK2/MUC19, have any genetic overlap across multiple autoimmune diseases including SAPHO syndrome, RA, AS, and SPA...
February 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28085497/harnessing-the-power-of-next-generation-sequencing
#20
Marion Muller
No abstract text is available yet for this article.
January 2017: Genetic Testing and Molecular Biomarkers
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