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Incidental genetic finding

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https://www.readbyqxmd.com/read/29687313/genetic-counselors-experience-with-and-opinions-on-the-management-of-newborn-screening-incidental-carrier-findings
#1
Kristen Leppert, Katharine Bisordi, Jessica Nieto, Kristin Maloney, Yue Guan, Shannan Dixon, Alena Egense
Newborn screening (NBS) is a public health program whose aim is to identify infants who will be clinically affected with a serious metabolic, genetic, or endocrine disorder; however, the technology utilized by many NBS programs also detects infants who are heterozygous carriers for autosomal recessive conditions. Discussion surrounding disclosure of these incidental carrier findings remains controversial. The purpose of this study was to assess genetic counselors' attitudes about disclosure of carrier status results generated by NBS and to gather data on their experiences with incidental carrier findings...
April 23, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29655499/genetic-testing-in-clinical-settings
#2
Nora Franceschini, Amber Frick, Jeffrey B Kopp
Genetic testing is used for screening, diagnosis, and prognosis of diseases consistent with a genetic cause and to guide drug therapy to improve drug efficacy and avoid adverse effects (pharmacogenomics). This In Practice review aims to inform about DNA-related genetic test availability, interpretation, and recommended clinical actions based on results using evidence from clinical guidelines, when available. We discuss challenges that limit the widespread use of genetic information in the clinical care setting, including a small number of actionable genetic variants with strong evidence of clinical validity and utility, and the need for improving the health literacy of health care providers and the public, including for direct-to-consumer tests...
April 11, 2018: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/29625023/identification-of-misclassified-clinvar-variants-via-disease-population-prevalence
#3
Naisha Shah, Ying-Chen Claire Hou, Hung-Chun Yu, Rachana Sainger, C Thomas Caskey, J Craig Venter, Amalio Telenti
There is a significant interest in the standardized classification of human genetic variants. We used whole-genome sequence data from 10,495 unrelated individuals to contrast population frequency of pathogenic variants to the expected population prevalence of the disease. Analyses included the ACMG-recommended 59 gene-condition sets for incidental findings and 463 genes associated with 265 OrphaNet conditions. A total of 25,505 variants were used to identify patterns of inflation (i.e., excess genetic risk and misclassification)...
April 5, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29595011/-incidental-findings-of-maternal-genetic-abnormalities-during-non-invasive-prenatal-screening
#4
F Léonard, Renaud Gueben, Robin Gueben, B Grisart, C Van Linthout
The non-invasive prenatal test (NIPT) has recently been added in our clinical practice. Sensitivity and specificity of this method in the common fetal aneuploidies screening is about 99 %. This technique remains a screening test, not a diagnosis test, because false positive or negative results exist. The discordant results are explained by the method itself witch analyses the whole free circulating DNA in the maternal blood: the fetal DNA from trophoblastic cells lysing but also the maternal DNA. Placenta confined mosaic is the main false positive cause reported in the literature...
March 2018: Revue Médicale de Liège
https://www.readbyqxmd.com/read/29593781/incidentalome-in-neurogenetics-pathogenic-variant-of-nsd1-in-a-patient-with-spinocerebellar-ataxia-sca
#5
Harvy Velasco, Diana Ramírez-Montaño
Background: Genetic studies of late-onset sporadic ataxias (>40 years of age) are not routinely indicated. For unresolved cases, next-generation sequencing (NGS) tools, such as whole-exome sequencing (WES), are available for a definitive diagnosis. Case presentation: Our patient is a woman with a usual facial phenotype and anthropometry, who developed ataxia at 45 years of age, with no relevant family history and an initial clinical approach that ruled out common aetiologies. WES was performed when the patient was 54 years old...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29582952/-exome-analysis-a-game-changer-in-pediatrics
#6
REVIEW
Asaf Ta-Shma, Simon Edvardson, Orly Elpeleg, Polina Stepensky
Thirteen years after the completion of the human genome project, the determination of the genomic sequence of the coding parts of the DNA (the exones, hence the exome), has turned into a primary diagnostic tool in daily use in clinical practice. The Department of Genetics at Hadassah was the first in Israel to introduce exome analysis as a robust diagnostic tool into the pediatric departments. Till now 2600 exomes were analyzed at Hadassah, 850 of them in 2016 alone. Exome analysis is cheap and fast, enabling precise and non-invasive diagnosis for a vast array of genetic disorders and congenital malformations...
March 2018: Harefuah
https://www.readbyqxmd.com/read/29567486/genetic-evaluation-of-cardiomyopathy-a-heart-failure-society-of-america-practice-guideline
#7
Ray E Hershberger, Michael Givertz, Carolyn Y Ho, Daniel P Judge, Paul Kantor, Kim L McBride, Ana Morales, Matthew R G Taylor, Matteo Vatta, Stephanie M Ware
This guideline describes the approach and expertise needed for the genetic evaluation of cardiomyopathy. First published in 2009 by the Heart Failure Society of America (HFSA), this guidance has now been updated in collaboration with the American College of Medical Genetics and Genomics (ACMG). The writing group, composed of cardiologists and genetics professionals with expertise in adult and pediatric cardiomyopathy, reflects the emergence and increased clinical activity devoted to cardiovascular genetic medicine...
March 19, 2018: Journal of Cardiac Failure
https://www.readbyqxmd.com/read/29565420/false-positive-results-released-by-direct-to-consumer-genetic-tests-highlight-the-importance-of-clinical-confirmation-testing-for-appropriate-patient-care
#8
Stephany Tandy-Connor, Jenna Guiltinan, Kate Krempely, Holly LaDuca, Patrick Reineke, Stephanie Gutierrez, Phillip Gray, Brigette Tippin Davis
PurposeThere is increasing demand from the public for direct-to-consumer (DTC) genetic tests, and the US Food and Drug Administration limits the type of health-related claims DTC tests can market. Some DTC companies provide raw genotyping data to customers if requested, and these raw data may include variants occurring in genes recommended by the American College of Medical Genetics and Genomics to be reported as incidental/secondary findings. The purpose of this study was to review the outcome of requests for clinical confirmation of DTC results that were received by our laboratory and to analyze variant classification concordance...
March 22, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29557500/incidental-and-clinically-actionable-genetic-variants-in-1005-whole-exomes-and-genomes-from-qatar
#9
Abhinav Jain, Shrey Gandhi, Remya Koshy, Vinod Scaria
Incidental findings in genomic data have been studied in great detail in the recent years, especially from population-scale data sets. However, little is known about the frequency of such findings in ethnic groups, specifically the Middle East, which were not previously covered in global sequencing studies. The availability of whole exome and genome data sets for a highly consanguineous Arab population from Qatar motivated us to explore the incidental findings in this population-scale data. The sequence data of 1005 Qatari individuals were systematically analyzed for incidental genetic variants in the 59 genes suggested by the American College of Medical Genetics and Genomics...
March 20, 2018: Molecular Genetics and Genomics: MGG
https://www.readbyqxmd.com/read/29517769/toward-an-effective-exome-based-genetic-testing-strategy-in-pediatric-dilated-cardiomyopathy
#10
Johanna C Herkert, Kristin M Abbott, Erwin Birnie, Martine T Meems-Veldhuis, Ludolf G Boven, Marloes Benjamins, Gideon J du Marchie Sarvaas, Daniela Q C M Barge-Schaapveld, J Peter van Tintelen, Paul A van der Zwaag, Yvonne J Vos, Richard J Sinke, Maarten P van den Berg, Irene M van Langen, Jan D H Jongbloed
PurposeWe evaluated the diagnostic yield in pediatric dilated cardiomyopathy (DCM) of combining exome sequencing (ES)-based targeted analysis and genome-wide copy-number variation (CNV) analysis. Based on our findings, we retrospectively designed an effective approach for genetic testing in pediatric DCM.MethodsWe identified 95 patients (in 85 families) with pediatric onset of DCM. We initially excluded 13 of these families because they already had a genetic diagnosis, leaving a total of 31 probands for single-nucleotide polymorphism (SNP) array and trio-ES...
March 8, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29514837/an-uncommon-chronic-osteochondral-defect-in-the-lateral-tibial-plateau-detected-after-a-separate-injury
#11
Raymond Leung, Panos Thomas
Osteochondral defects (OCD) are rare conditions that usually present in young adolescents. The causes include trauma, inflammation, ischaemia, genetics and changes at secondary ossification centres. The case report presents a 27-year-old man with chronic intermittent left knee pain for about 3 years. He typically develops the symptom after prolonged standing or when rising from a prolonged seated position. An initial MRI scan in 2014 did not identify and report an OCD that was present in his left lateral tibial plateau...
March 7, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29506557/attitudes-of-stakeholders-in-psychiatry-towards-the-inclusion-of-children-in-genomic-research
#12
Anna Sundby, Merete Watt Boolsen, Kristoffer Sølvsten Burgdorf, Henrik Ullum, Thomas Folkmann Hansen, Ole Mors
BACKGROUND: Genomic sequencing of children in research raises complex ethical issues. This study aims to gain more knowledge on the attitudes towards the inclusion of children as research subjects in genomic research and towards the disclosure of pertinent and incidental findings to the parents and the child. METHODS: Qualitative data were collected from interviews with a wide range of informants: experts engaged in genomic research, clinical geneticists, persons with mental disorders, relatives, and blood donors...
March 5, 2018: Human Genomics
https://www.readbyqxmd.com/read/29496978/practice-guideline-joint-ccmg-sogc-recommendations-for-the-use-of-chromosomal-microarray-analysis-for-prenatal-diagnosis-and-assessment-of-fetal-loss-in-canada
#13
Christine M Armour, Shelley Danielle Dougan, Jo-Ann Brock, Radha Chari, Bernie N Chodirker, Isabelle DeBie, Jane A Evans, William T Gibson, Elena Kolomietz, Tanya N Nelson, Frédérique Tihy, Mary Ann Thomas, Dimitri J Stavropoulos
BACKGROUND: The aim of this guideline is to provide updated recommendations for Canadian genetic counsellors, medical geneticists, maternal fetal medicine specialists, clinical laboratory geneticists and other practitioners regarding the use of chromosomal microarray analysis (CMA) for prenatal diagnosis. This guideline replaces the 2011 Society of Obstetricians and Gynaecologists of Canada (SOGC)-Canadian College of Medical Geneticists (CCMG) Joint Technical Update. METHODS: A multidisciplinary group consisting of medical geneticists, genetic counsellors, maternal fetal medicine specialists and clinical laboratory geneticists was assembled to review existing literature and guidelines for use of CMA in prenatal care and to make recommendations relevant to the Canadian context...
April 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29434686/pulmonary-alveolar-microlithiasis-a-case-report-and-review-of-the-literature
#14
Xu-Dong Zhang, Jin-Ming Gao, Jin-Mei Luo, Yu Zhao
Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disease characterized by the formation of calcium phosphate microliths in the alveoli. Mutations in the gene encoding the solute carrier family 34 member 2 gene are considered to be involved in the pathogenesis of PAM. Although PAM can develop in children, the majority of patients with PAM are diagnosed in adulthood due to the slow progressive nature of the disease within the lungs. In childhood, the majority of patients with PAM are asymptomatic and changes in the lung parenchyma are usually identified incidentally...
January 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29387327/association-of-limb-girdle-muscular-dystrophy-with-multiple-sclerosis-a-case-report
#15
Mahsa Arzani, Hamed Rezaei, Abdorreza Naser Moghadasi
Background: The association of limb-girdle muscular dystrophy (LGMD) with other neurological disorders is uncommon. Case presentation: We report a 25-year-old female with LGMD who suffered from slowly progressive proximal muscular weakness and atrophy since she was 12 years of age. The patient recently presented with acute loss of left side visual acuity. After evaluation, findings were suggestive of multiple sclerosis. Conclusions: This is the first report of LGMD in association with MS...
2018: Caspian Journal of Internal Medicine
https://www.readbyqxmd.com/read/29372848/hepatic-epithelioid-hemangioendothelioma
#16
Lynette L Studer, Dale M Selby
Epithelioid hemangioendothelioma is a rare vascular tumor, composed of epithelioid and histiocytoid vascular endothelial cells in myxoid or fibrotic stroma, which can arise in multiple locations throughout the body. In the liver, this neoplasm usually presents on imaging as an incidental finding of multifocal, heterogeneously enhancing nodules in both lobes or presents clinically with nonspecific abdominal symptoms. Histologically, the tumor has been mistaken for metastatic carcinoma, angiosarcoma, hepatocellular carcinoma, and cholangiocarcinoma...
February 2018: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/29340884/-i-would-like-to-discuss-it-further-with-an-expert-a-focus-group-study-of-finnish-adults-perspectives-on-genetic-secondary-findings
#17
M Vornanen, K Aktan-Collan, N Hallowell, H Konttinen, H Kääriäinen, A Haukkala
Lowered costs of genomic sequencing facilitate analyzing large segments of genetic data. Ethical debate has focused on whether and what kind of incidental or secondary findings (SFs) to report, and how to obtain valid informed consent. However, people's support needs after receiving SFs have received less attention. We explored Finnish adults' perspectives on reporting genetic SFs. In this qualitative study which included four focus group discussions (N = 23) we used four vignette letters, each reporting a genetic SF predisposing to a different disease: familial hypercholesterolemia, long QT syndrome, Lynch syndrome, and Li-Fraumeni syndrome...
January 16, 2018: Journal of Community Genetics
https://www.readbyqxmd.com/read/29325607/genetic-and-genomic-testing-for-neurologic-disease-in-clinical-practice
#18
Brent L Fogel
The influence of genetics on neurologic disease is broad and it is becoming more common that clinicians are presented with a patient whose disease is likely of genetic origin. In the search for mutations causing Mendelian disorders, advances in genetic testing methodology have propelled modern neurologic practice beyond single-gene testing into the realm of genomic medicine, where routine evaluations encompass hundreds or thousands of genes, or even the entire exome, representing all protein-coding genes in the genome...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29296726/novel-approach-to-genetic-analysis-and-results-in-3000-hemophilia-patients-enrolled-in-the-my-life-our-future-initiative
#19
Jill M Johnsen, Shelley N Fletcher, Haley Huston, Sarah Roberge, Beth K Martin, Martin Kircher, Neil C Josephson, Jay Shendure, Sarah Ruuska, Marion A Koerper, Jaime Morales, Glenn F Pierce, Diane J Aschman, Barbara A Konkle
Hemophilia A and B are rare, X-linked bleeding disorders. My Life, Our Future (MLOF) is a collaborative project established to genotype and study hemophilia. Patients were enrolled at US hemophilia treatment centers (HTCs). Genotyping was performed centrally using next-generation sequencing (NGS) with an approach that detected common F8 gene inversions simultaneously with F8 and F9 gene sequencing followed by confirmation using standard genotyping methods. Sixty-nine HTCs enrolled the first 3000 patients in under 3 years...
May 23, 2017: Blood Advances
https://www.readbyqxmd.com/read/29285586/intracranial-ewing-sarcoma-four-pediatric-examples
#20
Michael J Yang, Ros Whelan, Jennifer Madden, Jean M Mulcahy Levy, B K Kleinschmidt-DeMasters, Todd C Hankinson, Nicholas K Foreman, Michael H Handler
BACKGROUND: Ewing sarcoma typically arises in bone and is unrelated to intraparenchymal small blue cell embryonal central nervous system (CNS) tumors previously designated primitive neuroectodermal tumors (PNETs). When the CNS is impacted, it is usually secondary to local extension from either the epidural space, skull, or intracranial or spinal metastases. Primary examples within the cranial vault are rare, usually dural-based, and are largely case reports in the literature. We detail four pediatric patients with solitary, primary intracranial Ewing sarcoma, all manifesting the archetypal EWRS1 gene rearrangement that confirms diagnosis...
March 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
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