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Genetics in Medicine: Official Journal of the American College of Medical Genetics

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https://www.readbyqxmd.com/read/29765139/is-universal-tumor-testing-for-lynch-syndrome-cost-effective-it-depends
#1
LETTER
Scott D Grosse
No abstract text is available yet for this article.
May 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29765138/does-genomic-sequencing-early-in-the-diagnostic-trajectory-make-a-difference-a-follow-up-study-of-clinical-outcomes-and-cost-effectiveness
#2
Zornitza Stark, Deborah Schofield, Melissa Martyn, Luke Rynehart, Rupendra Shrestha, Khurshid Alam, Sebastian Lunke, Tiong Y Tan, Clara L Gaff, Susan M White
PURPOSE: To systematically investigate the longer-term clinical and health economic impacts of genomic sequencing for rare-disease diagnoses. METHODS: We collected information on continuing diagnostic investigation, changes in management, cascade testing, and parental reproductive outcomes in 80 infants who underwent singleton whole-exome sequencing (WES). RESULTS: The median duration of follow-up following result disclosure was 473 days. Changes in clinical management due to diagnostic WES results led to a cost saving of AU$1,578 per quality-adjusted life year gained, without increased hospital service use...
May 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29760485/clinical-application-of-genome-and-exome-sequencing-as-a-diagnostic-tool-for-pediatric-patients-a-scoping-review-of-the-literature
#3
REVIEW
Hadley Stevens Smith, J Michael Swint, Seema R Lalani, Jose-Miguel Yamal, Marcia C de Oliveira Otto, Stephan Castellanos, Amy Taylor, Brendan H Lee, Heidi V Russell
PURPOSE: Availability of clinical genomic sequencing (CGS) has generated questions about the value of genome and exome sequencing as a diagnostic tool. Analysis of reported CGS application can inform uptake and direct further research. This scoping literature review aims to synthesize evidence on the clinical and economic impact of CGS. METHODS: PubMed, Embase, and Cochrane were searched for peer-reviewed articles published between 2009 and 2017 on diagnostic CGS for infant and pediatric patients...
May 14, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29740170/validation-of-version-3-0-of-the-breast-cancer-genetics-referral-screening-tool-b-rst%C3%A2
#4
Cecelia Bellcross, April Hermstad, Christine Tallo, Christine Stanislaw
PURPOSE: Despite increased awareness of hereditary breast and ovarian cancer among clinicians and the public, many BRCA1/2 mutation carriers remain unaware of their risk status. The Breast Cancer Genetics Referral Screening Tool (B-RST™) was created and validated to easily identify individuals at increased risk for hereditary breast and ovarian cancer for referral to cancer genetics services. The purpose of this study was to revise B-RST™ to maximize sensitivity against BRCA1/2 mutation status...
May 8, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29740169/gain-of-function-mutations-in-dnmt3a-in-patients-with-paraganglioma
#5
Laura Remacha, Maria Currás-Freixes, Raúl Torres-Ruiz, Francesca Schiavi, Rafael Torres-Pérez, Bruna Calsina, Rocío Letón, Iñaki Comino-Méndez, Juan M Roldán-Romero, Cristina Montero-Conde, María Santos, Lucía Inglada Pérez, Guillermo Pita, María R Alonso, Emiliano Honrado, Susana Pedrinaci, Benedicto Crespo-Facorro, Antonio Percesepe, Maurizio Falcioni, Sandra Rodríguez-Perales, Esther Korpershoek, Santiago Ramón-Maiques, Giuseppe Opocher, Cristina Rodríguez-Antona, Mercedes Robledo, Alberto Cascón
PURPOSE: The high percentage of patients carrying germline mutations makes pheochromocytomas/paragangliomas the most heritable of all tumors. However, there are still cases unexplained by mutations in the known genes. We aimed to identify the genetic cause of disease in patients strongly suspected of having hereditary tumors. METHODS: Whole-exome sequencing was applied to the germlines of a parent-proband trio. Genome-wide methylome analysis, RNA-seq, CRISPR/Cas9 gene editing, and targeted sequencing were also performed...
May 8, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29740168/universal-screening-of-lynch-syndrome-is-ready-for-implementation
#6
LETTER
Marco Di Marco, Elvira D'Andrea, Paolo Villari
No abstract text is available yet for this article.
May 8, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29713001/attention-direct-to-consumer-patrons-proceed-with-caution
#7
Michael J Friez
No abstract text is available yet for this article.
April 30, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29671837/analysis-of-17-genes-detects-mutations-in-81-of-811-patients-with-lissencephaly
#8
Nataliya Di Donato, Andrew E Timms, Kimberly A Aldinger, Ghayda M Mirzaa, James T Bennett, Sarah Collins, Carissa Olds, Davide Mei, Sara Chiari, Gemma Carvill, Candace T Myers, Jean-Baptiste Rivière, Maha S Zaki, Joseph G Gleeson, Andreas Rump, Valerio Conti, Elena Parrini, M Elizabeth Ross, David H Ledbetter, Renzo Guerrini, William B Dobyns
PurposeTo estimate diagnostic yield and genotype-phenotype correlations in a cohort of 811 patients with lissencephaly or subcortical band heterotopia.MethodsWe collected DNA from 756 children with lissencephaly over 30 years. Many were tested for deletion 17p13.3 and mutations of LIS1, DCX, and ARX, but few other genes. Among those tested, 216 remained unsolved and were tested by a targeted panel of 17 genes (ACTB, ACTG1, ARX, CRADD, DCX, LIS1, TUBA1A, TUBA8, TUBB2B, TUBB, TUBB3, TUBG1, KIF2A, KIF5C, DYNC1H1, RELN, and VLDLR) or by whole-exome sequencing...
April 19, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29620724/expanding-the-phenome-and-variome-of-skeletal-dysplasia
#9
Sateesh Maddirevula, Saud Alsahli, Lamees Alhabeeb, Nisha Patel, Fatema Alzahrani, Hanan E Shamseldin, Shams Anazi, Nour Ewida, Hessa S Alsaif, Jawahir Y Mohamed, Anas M Alazami, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Mohamed Abouelhoda, Dorota Monies, Nada Al Tassan, Muneera Alshammari, Afaf Alsagheir, Mohammed Zain Seidahmed, Samira Sogati, Mona S Aglan, Muddathir H Hamad, Mustafa A Salih, Ahlam A Hamed, Nadia Alhashmi, Amira Nabil, Fatima Alfadli, Ghada M H Abdel-Salam, Hisham Alkuraya, Winnie Ong Peitee, W T Keng, Abdullah Qasem, Aziza M Mushiba, Maha S Zaki, Mahmoud R Fassad, Majid Alfadhel, Saji Alexander, Yasser Sabr, Samia Temtamy, Alka V Ekbote, Samira Ismail, Gamal Ahmed Hosny, Ghada A Otaify, Khalda Amr, Saeed Al Tala, Arif O Khan, Tamer Rizk, Aida Alaqeel, Abdulmonem Alsiddiky, Ankur Singh, Seema Kapoor, Amal Alhashem, Eissa Faqeih, Ranad Shaheen, Fowzan S Alkuraya
PurposeTo describe our experience with a large cohort (411 patients from 288 families) of various forms of skeletal dysplasia who were molecularly characterized.MethodsDetailed phenotyping and next-generation sequencing (panel and exome).ResultsOur analysis revealed 224 pathogenic/likely pathogenic variants (54 (24%) of which are novel) in 123 genes with established or tentative links to skeletal dysplasia. In addition, we propose 5 genes as candidate disease genes with suggestive biological links (WNT3A, SUCO, RIN1, DIP2C, and PAN2)...
April 5, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29595814/whole-exome-sequencing-reanalysis-at-12-months-boosts-diagnosis-and-is-cost-effective-when-applied-early-in-mendelian-disorders
#10
Lisa J Ewans, Deborah Schofield, Rupendra Shrestha, Ying Zhu, Velimir Gayevskiy, Kevin Ying, Corrina Walsh, Eric Lee, Edwin P Kirk, Alison Colley, Carolyn Ellaway, Anne Turner, David Mowat, Lisa Worgan, Mary-Louise Freckmann, Michelle Lipke, Rani Sachdev, David Miller, Michael Field, Marcel E Dinger, Michael F Buckley, Mark J Cowley, Tony Roscioli
PurposeWhole-exome sequencing (WES) has revolutionized Mendelian diagnostics, however, there is no consensus on the timing of data review in undiagnosed individuals and only preliminary data on the cost-effectiveness of this technology. We aimed to assess the utility of WES data reanalysis for diagnosis in Mendelian disorders and to analyze the cost-effectiveness of this technology compared with a traditional diagnostic pathway.MethodsWES was applied to a cohort of 54 patients from 37 families with a variety of Mendelian disorders to identify the genetic etiology...
March 29, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29595813/fmr1-allele-size-distribution-in-35-000-males-and-females-a-comparison-of-developmental-delay-and-general-population-cohorts
#11
Claudine M Kraan, Quang M Bui, Mike Field, Alison D Archibald, Sylvia A Metcalfe, Louise M Christie, Bruce H Bennetts, Ralph Oertel, Melanie J Smith, Desiree du Sart, Damien Bruno, Tiffany L Wotton, David J Amor, David Francis, David E Godler
PurposeDevelopmental delay phenotypes have been associated with FMR1 premutation (PM: 55-200 CGG repeats) and "gray zone" (GZ: 45-54 CGG repeats) alleles. However, these associations have not been confirmed by larger studies to be useful in pediatric diagnostic or screening settings.MethodsThis study determined the prevalence of PM and GZ alleles in two independent cohorts of 19,076 pediatric referrals to developmental delay diagnostic testing through Victorian Clinical Genetics Service (cohort 1: N = 10,235; cohort 2: N = 8841), compared with two independent general population cohorts (newborn screening N = 1997; carrier screening by the Victorian Clinical Genetics Service prepair program N = 14,249)...
March 29, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29595812/rapid-prenatal-diagnosis-using-targeted-exome-sequencing-a-cohort-study-to-assess-feasibility-and-potential-impact-on-prenatal-counseling-and-pregnancy-management
#12
Natalie Chandler, Sunayna Best, Jane Hayward, Francesca Faravelli, Sahar Mansour, Emma Kivuva, Dagmar Tapon, Alison Male, Catherine DeVile, Lyn S Chitty
PurposeUnexpected fetal abnormalities occur in 2-5% of pregnancies. While traditional cytogenetic and microarray approaches achieve diagnosis in around 40% of cases, lack of diagnosis in others impedes parental counseling, informed decision making, and pregnancy management. Postnatally exome sequencing yields high diagnostic rates, but relies on careful phenotyping to interpret genotype results. Here we used a multidisciplinary approach to explore the utility of rapid fetal exome sequencing for prenatal diagnosis using skeletal dysplasias as an exemplar...
March 29, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29595811/familial-communication-and-cascade-testing-among-relatives-of-brca-population-screening-participants
#13
Sari Lieberman, Amnon Lahad, Ariela Tomer, Sivan Koka, Malka BenUziyahu, Aviad Raz, Ephrat Levy-Lahad
PurposePopulation BRCA1/BRCA2 screening identifies carriers irrespective of family history, yet this information is actionable for relatives. We examined familial communication rates and cascade testing in the screening setting and assessed sociodemographic and psychosocial predictors.MethodsParticipants in a BRCA1/BRCA2 screening study of healthy Ashkenazi Jews self-administered a family communication questionnaire. Intent to communicate was determined before genetic status was known, along with result communication (carriers and noncarriers) 6 months and 2 years after enrollment...
March 29, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29595810/genotype-and-phenotype-correlation-in-von-hippel-lindau-disease-based-on-alteration-of-the-hif-%C3%AE-binding-site-in-vhl-protein
#14
Sheng-Jie Liu, Jiang-Yi Wang, Shuang-He Peng, Teng Li, Xiang-Hui Ning, Bao-An Hong, Jia-Yuan Liu, Peng-Jie Wu, Bo-Wen Zhou, Jing-Cheng Zhou, Nie-Nie Qi, Xiang Peng, Jiu-Feng Zhang, Kai-Fang Ma, Lin Cai, Kan Gong
PurposeVon Hippel-Lindau (VHL) disease is a rare hereditary cancer syndrome that reduces life expectancy. We aimed to construct a more valuable genotype-phenotype correlation based on alterations in VHL protein (pVHL).MethodsVHL patients (n = 339) were recruited and grouped based on mutation types: HIF-α binding site missense (HM) mutations, non-HIF-α binding site missense (nHM) mutations, and truncating (TR) mutations. Age-related risks of VHL-associated tumors and patient survival were compared.ResultsMissense mutations conferred an increased risk of pheochromocytoma (HR = 1...
March 29, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29595809/audiome-a-tiered-exome-sequencing-based-comprehensive-gene-panel-for-the-diagnosis-of-heterogeneous-nonsyndromic-sensorineural-hearing-loss
#15
Qiaoning Guan, Jorune Balciuniene, Kajia Cao, Zhiqian Fan, Sawona Biswas, Alisha Wilkens, Daniel J Gallo, Emma Bedoukian, Jennifer Tarpinian, Pushkala Jayaraman, Mahdi Sarmady, Matthew Dulik, Avni Santani, Nancy Spinner, Ahmad N Abou Tayoun, Ian D Krantz, Laura K Conlin, Minjie Luo
PurposeHereditary hearing loss is highly heterogeneous. To keep up with rapidly emerging disease-causing genes, we developed the AUDIOME test for nonsyndromic hearing loss (NSHL) using an exome sequencing (ES) platform and targeted analysis for the curated genes.MethodsA tiered strategy was implemented for this test. Tier 1 includes combined Sanger and targeted deletion analyses of the two most common NSHL genes and two mitochondrial genes. Nondiagnostic tier 1 cases are subjected to ES and array followed by targeted analysis of the remaining AUDIOME genes...
March 29, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29565424/efficacy-safety-profile-and-immunogenicity-of-alglucosidase-alfa-produced-at-the-4-000-liter-scale-in-us-children-and-adolescents-with-pompe-disease-advance-a-phase-iv-open-label-prospective-study
#16
Si Houn Hahn, David Kronn, Nancy D Leslie, Loren D M Pena, Pranoot Tanpaiboon, Michael J Gambello, James B Gibson, Richard Hillman, David W Stockton, John W Day, Raymond Y Wang, Kristina An Haack, Raheel Shafi, Susan Sparks, Yang Zhao, Catherine Wilson, Priya S Kishnani
PurposePompe disease results from lysosomal acid α-glucosidase (GAA) deficiency and its associated glycogen accumulation and muscle damage. Alglucosidase alfa (recombinant human GAA (rhGAA)) received approval in 2006 as a treatment for Pompe disease at the 160 L production scale. In 2010, larger-scale rhGAA was approved for patients up to 8 years old without cardiomyopathy. NCT01526785 evaluated 4,000 L rhGAA efficacy/safety in US infantile- or late-onset Pompe disease (IOPD, LOPD) patients up to 1 year old transitioned from 160 L rhGAA...
March 22, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29565423/short-term-costs-of-integrating-whole-genome-sequencing-into-primary-care-and-cardiology-settings-a-pilot-randomized-trial
#17
Kurt D Christensen, Jason L Vassy, Kathryn A Phillips, Carrie L Blout, Danielle R Azzariti, Christine Y Lu, Jill O Robinson, Kaitlyn Lee, Michael P Douglas, Jennifer M Yeh, Kalotina Machini, Natasha K Stout, Heidi L Rehm, Amy L McGuire, Robert C Green, Dmitry Dukhovny
PurposeGreat uncertainty exists about the costs associated with whole-genome sequencing (WGS).MethodsOne hundred cardiology patients with cardiomyopathy diagnoses and 100 ostensibly healthy primary care patients were randomized to receive a family-history report alone or with a WGS report. Cardiology patients also reviewed prior genetic test results. WGS costs were estimated by tracking resource use and staff time. Downstream costs were estimated by identifying services in administrative data, medical records, and patient surveys for 6 months...
March 22, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29565422/is-prenatal-genomic-testing-ready-for-prime-time
#18
Margaret P Adam
No abstract text is available yet for this article.
March 22, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29565421/risks-of-breast-or-ovarian-cancer-in-brca1-or-brca2-predictive-test-negatives-findings-from-the-embrace-study
#19
Fabio Girardi, Daniel R Barnes, Daniel Barrowdale, Debra Frost, Angela F Brady, Claire Miller, Alex Henderson, Alan Donaldson, Alex Murray, Carole Brewer, Caroline Pottinger, D Gareth Evans, Diana Eccles, Fiona Lalloo, Helen Gregory, Jackie Cook, Jacqueline Eason, Julian Adlard, Julian Barwell, Kai Ren Ong, Lisa Walker, Louise Izatt, Lucy E Side, M John Kennedy, Marc Tischkowitz, Mark T Rogers, Mary E Porteous, Patrick J Morrison, Ros Eeles, Rosemarie Davidson, Katie Snape, Douglas F Easton, Antonis C Antoniou
PurposeBRCA1/BRCA2 predictive test negatives are proven noncarriers of a BRCA1/BRCA2 mutation that is carried by their relatives. The risk of developing breast cancer (BC) or epithelial ovarian cancer (EOC) in these women is uncertain. The study aimed to estimate risks of invasive BC and EOC in a large cohort of BRCA1/BRCA2 predictive test negatives.MethodsWe used cohort analysis to estimate incidences, cumulative risks, and standardized incidence ratios (SIRs).ResultsA total of 1,895 unaffected women were eligible for inclusion in the BC risk analysis and 1,736 in the EOC risk analysis...
March 22, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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
#20
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
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