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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/30635622/the-illusion-of-polygenic-disease-risk-prediction
#1
Nicholas J Wald, Robert Old
A problem at the interface of genomic medicine and medical screening is that genetic associations of etiological significance are often interpreted as having predictive significance. Genome-wide association studies (GWAS) have identified many thousands of associations between common DNA variants and hundreds of diseases and benign traits. This knowledge has generated many publications with the understandable expectation that it can be used to derive polygenic risk scores for predicting disease to identify those at sufficiently high risk to benefit from preventive intervention...
January 12, 2019: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30635621/transcription-alterations-of-kcnq1-associated-with-imprinted-methylation-defects-in-the-beckwith-wiedemann-locus
#2
Federica Maria Valente, Angela Sparago, Andrea Freschi, Katherine Hill-Harfe, Saskia M Maas, Suzanna Gerarda Maria Frints, Marielle Alders, Laura Pignata, Monica Franzese, Claudia Angelini, Diana Carli, Alessandro Mussa, Andrea Gazzin, Fulvio Gabbarini, Basilia Acurzio, Giovanni Battista Ferrero, Jet Bliek, Charles A Williams, Andrea Riccio, Flavia Cerrato
PURPOSE: Beckwith-Wiedemann syndrome (BWS) is a developmental disorder caused by dysregulation of the imprinted gene cluster of chromosome 11p15.5 and often associated with loss of methylation (LOM) of the imprinting center 2 (IC2) located in KCNQ1 intron 10. To unravel the etiological mechanisms underlying these epimutations, we searched for genetic variants associated with IC2 LOM. METHODS: We looked for cases showing the clinical features of both BWS and long QT syndrome (LQTS), which is often associated with KCNQ1 variants...
January 12, 2019: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30635623/response-to-gammal-et-al
#3
LETTER
Jason L Vassy, Annjanette Stone, John T Callaghan, Margaret Mendes, Laurence J Meyer, Victoria M Pratt, Ronald M Przygodzki, Maren T Scheuner, Jessica Wang-Rodriguez, Steven A Schichman
No abstract text is available yet for this article.
January 11, 2019: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30626901/phenylalanine-and-tyrosine-measurements-across-gestation-by-tandem-mass-spectrometer-on-dried-blood-spot-cards-from-normal-pregnant-women
#4
Kim L McBride, Jill Pluciniczak, Timothy Rhyand, Dennis Bartholomew
PURPOSE: Maternal phenylketonuria (MPKU) requires strict control of phenylalanine (Phe) and supplemental tyrosine (Tyr). Monitoring during pregnancy using dried blood spot (DBS) cards by tandem mass spectrometry (MS/MS) is now standard practice, however there are no Phe and Tyr reference ranges for DBS MS/MS method in healthy pregnant women. METHODS: DBS cards (63-1364 days in storage) from healthy women with singleton pregnancies were analyzed by MS/MS. Three hundred ninety DBS cards from 170 pregnancies (5/1-39/6 weeks' gestation), were tested...
January 10, 2019: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30631112/considerations-for-pharmacogenomic-testing-in-a-health-system
#5
LETTER
Roseann S Gammal, Kelly E Caudle, Teri E Klein, Mary V Relling
No abstract text is available yet for this article.
January 9, 2019: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30607023/loss-of-function-of-svbp-leads-to-autosomal-recessive-intellectual-disability-microcephaly-ataxia-and-hypotonia
#6
Zafar Iqbal, Hasan Tawamie, Wei Ba, André Reis, Bassam Al Halak, Heinrich Sticht, Steffen Uebe, Nael Nadif Kasri, Sheikh Riazuddin, Hans van Bokhoven, Rami Abou Jamra
PURPOSE: Identifying and characterizing novel causes of autosomal recessive intellectual disability based on systematic clinical and genetic evaluation, followed by functional experiments. METHODS: Clinical examinations, genome-wide positional mapping, and sequencing were followed by quantitative polymerase chain reaction and western blot of the protein SVBP and its interaction partners. We then knocked down the gene in rat primary hippocampal neurons and evaluated the consequences on synapses...
January 4, 2019: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30607024/correction-biallelic-sequence-and-structural-variants-in-rax2-are-a-novel-cause-for-autosomal-recessive-inherited-retinal-disease
#7
Stijn Van de Sompele, Claire Smith, Marianthi Karali, Marta Corton, Kristof Van Schil, Frank Peelman, Timothy Cherry, Toon Rosseel, Hannah Verdin, Julien Derolez, Thalia Van Laethem, Kamron N Khan, Martin McKibbin, Carmel Toomes, Manir Ali, Annalaura Torella, Francesco Testa, Belen Jimenez, Francesca Simonelli, Julie De Zaeytijd, Jenneke Van den Ende, Bart P Leroy, Frauke Coppieters, Carmen Ayuso, Chris F Inglehearn, Sandro Banfi, Elfride De Baere
The original version of this Article contained an incorrect version of Fig. 3, which included two variants initially shown in black text in Fig. 3a that the authors removed from the final manuscript. The correct version of Fig. 3 without the two variants now appears in the PDF and HTML versions of the Article.
January 3, 2019: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30581191/a-crispr-focus-on-attitudes-and-beliefs-toward-somatic-genome-editing-from-stakeholders-within-the-sickle-cell-disease-community
#8
Anitra Persaud, Stacy Desine, Katherine Blizinsky, Vence L Bonham
PURPOSE: Genome editing holds both tremendous therapeutic promise and significant potential risk. Sickle cell disease (SCD), the most commonly inherited blood disorder, is a frontline candidate for the clinical applications of this tool. However, there is limited knowledge of patient community values and concerns regarding this new technology. This study aims to investigate the perspectives of three key decision-makers (patients, parents, and physicians) toward participation in future CRISPR-mediated somatic genome editing clinical trials...
December 24, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30578420/patient-re-contact-after-revision-of-genomic-test-results-points-to-consider-a-statement-of-the-american-college-of-medical-genetics-and-genomics-acmg
#9
Karen L David, Robert G Best, Leslie Manace Brenman, Lynn Bush, Joshua L Deignan, David Flannery, Jodi D Hoffman, Ingrid Holm, David T Miller, James O'Leary, Reed E Pyeritz
No abstract text is available yet for this article.
December 22, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30573799/cancer-communication-research-in-the-era-of-genomics-and-precision-medicine-a-scoping-review
#10
REVIEW
Kimberly A Kaphingst, Emily Peterson, Jingsong Zhao, Anna Gaysynsky, Ashley Elrick, Soo Jung Hong, Melinda Krakow, Manusheela Pokharel, Chelsea L Ratcliff, William M P Klein, Muin J Khoury, Wen-Ying Sylvia Chou
Effective use of genetic and genomic data in cancer prevention and treatment depends on adequate communication with patients and the public. Although relevant empirical work has emerged, the scope and outcomes of this communication research have not been characterized. We conducted a comprehensive scoping review of recent published research (2010-2017) on communication of cancer-related genetic and genomic testing (CGT) information. Searches in six databases revealed 9243 unique records; 513 papers were included...
December 21, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30573798/biallelic-germline-nonsense-variant-of-mlh3-underlies-polyposis-predisposition
#11
Alisa Olkinuora, Taina T Nieminen, Emma Mårtensson, Anna Rohlin, Ari Ristimäki, Laura Koskenvuo, Anna Lepistö, Samuel Gebre-Medhin, Margareta Nordling, Päivi Peltomäki
PURPOSE: Some 10% of familial adenomatous polyposis (FAP) and 80% of attenuated polyposis (AFAP) cases remain molecularly unexplained. We scrutinized such cases by exome-wide and targeted methods to search for novel susceptibility genes. METHODS: Exome sequencing was conducted on 40 unexplained (mainly sporadic) cases with FAP or AFAP from Finland. The DNA mismatch repair (MMR) gene MLH3 (MutL Homolog 3) was pinpointed and prompted a subsequent screen of ~1000 Swedish patients referred to clinical panel sequencing for colon tumor susceptibility...
December 21, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30573797/marfan-syndrome-improved-clinical-history-results-in-expanded-natural-history
#12
REVIEW
Reed E Pyeritz
Life expectancy for a person with Marfan syndrome has essentially doubled over the past four decades. During this period, the clinical histories of the organs managed routinely have improved, and will continue to be. Prominent examples are the eyes, the heart and aorta, and some features of the skeletal system. Meanwhile, the natural histories of organ systems that have not been subjected to treatment need to be described. This is particularly important as due to the improved life span many symptoms and organ systems are only recently being recognized as being intrinsic to Marfan syndrome...
December 21, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30573796/45-x-mosaicism-in-a-population-based-biobank-implications-for-turner-syndrome
#13
LETTER
Siddharth K Prakash, Melissa L Crenshaw, Philippe F Backeljauw, Michael Silberbach, Cindy Scurlock, Denise D Culin, Kelly C Ranallo, Angela E Lin
No abstract text is available yet for this article.
December 21, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30573795/response-to-prakash-et-al
#14
LETTER
Marcus A Tuke, Katherine S Ruth, Andrew R Wood, Robin N Beaumont, Jessica Tyrrell, Samuel E Jones, Hanieh Yaghootkar, Claire L S Turner, Mollie E Donohoe, Antonia M Brooke, Morag N Collinson, Rachel M Freathy, Michael N Weedon, Timothy M Frayling, Anna Murray
No abstract text is available yet for this article.
December 21, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30568311/next-generation-phenotyping-using-computer-vision-algorithms-in-rare-genomic-neurodevelopmental-disorders
#15
Roos van der Donk, Sandra Jansen, Janneke H M Schuurs-Hoeijmakers, David A Koolen, Lia C M J Goltstein, Alexander Hoischen, Han G Brunner, Patrick Kemmeren, Christoffer Nellåker, Lisenka E L M Vissers, Bert B A de Vries, Jayne Y Hehir-Kwa
PURPOSE: The interpretation of genetic variants after genome-wide analysis is complex in heterogeneous disorders such as intellectual disability (ID). We investigate whether algorithms can be used to detect if a facial gestalt is present for three novel ID syndromes and if these techniques can help interpret variants of uncertain significance. METHODS: Facial features were extracted from photos of ID patients harboring a pathogenic variant in three novel ID genes (PACS1, PPM1D, and PHIP) using algorithms that model human facial dysmorphism, and facial recognition...
December 20, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30568310/estimating-the-burden-and-economic-impact-of-pediatric-genetic-disease
#16
Nina Gonzaludo, John W Belmont, Vladimir G Gainullin, Ryan J Taft
PURPOSE: To identify the economic impact of pediatric patients with clinical indications of genetic disease (GD) on the US health-care system. METHODS: Using the 2012 Kids' Inpatient Database, we identified pediatric inpatient discharges with International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) codes linked to genetic disease, including well-established genetic disorders, neurological diseases, birth defects, and other physiological or functional abnormalities with a genetic basis...
December 20, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30568309/ethnic-identity-and-engagement-with-genome-sequencing-research
#17
Erin Turbitt, Megan C Roberts, Brittany M Hollister, Katie L Lewis, Leslie G Biesecker, William M P Klein
PURPOSE: We examined the role of ethnic identity (which measures the degree to which individuals identify with their ethnic group) in beliefs about, and intentions to learn, genomic results. METHODS: A longitudinal cohort was recruited to implement genome sequencing among healthy participants self-identifying as African, African American, or Afro-Caribbean, 40-65 years old (n = 408). Before receiving genomic results, participants completed a survey assessing social and behavioral constructs related to health, genomics, and ethnic identity...
December 20, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30568308/microdeletions-excluding-ywhae-and-pafah1b1-cause-a-unique-leukoencephalopathy-further-delineation-of-the-17p13-3-microdeletion-spectrum
#18
Lisa T Emrick, Jill A Rosenfeld, Seema R Lalani, Mahim Jain, Nilesh K Desai, Austin Larson, Kimberly Kripps, Adeline Vanderver, Ryan J Taft, Krista Bluske, Denise Perry, Honey Nagakura, LaDonna L Immken, Lindsay C Burrage, Carlos A Bacino, John W Belmont, Undiagnosed Diseases Network, Brendan Lee
PURPOSE: Brain malformations caused by 17p13.3 deletions include lissencephaly with deletions of the larger Miller-Dieker syndrome region or smaller deletions of only PAFAH1B1, white matter changes, and a distinct syndrome due to deletions including YWHAE and CRK but sparing PAFAH1B1. We sought to understand the significance of 17p13.3 deletions between the YWHAE/CRK and PAFAH1B1 loci. METHODS: We analyzed the clinical features of six individuals from five families with 17p13...
December 20, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30563988/detection-of-structural-variation-using-target-captured-next-generation-sequencing-data-for-genetic-diagnostic-testing
#19
Wenbo Mu, Bing Li, Sitao Wu, Jefferey Chen, Divya Sain, Dong Xu, Mary Helen Black, Rachid Karam, Katrina Gillespie, Kelly D Farwell Hagman, Lucia Guidugli, Melissa Pronold, Aaron Elliott, Hsiao-Mei Lu
PURPOSE: Structural variation (SV) is associated with inherited diseases. Next-generation sequencing (NGS) is an efficient method for SV detection because of its high-throughput, low cost, and base-pair resolution. However, due to lack of standard NGS protocols and a limited number of clinical samples with pathogenic SVs, comprehensive standards for SV detection, interpretation, and reporting are to be established. METHODS: We performed SV assessment on 60,000 clinical samples tested with hereditary cancer NGS panels spanning 48 genes...
December 19, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30563987/characteristics-and-evaluation-outcomes-of-genomics-curricula-for-health-professional-students-a-systematic-literature-review
#20
REVIEW
Divya Talwar, Wei-Ju Chen, Yu-Lyu Yeh, Margaret Foster, Salah Al-Shagrawi, Lei-Shih Chen
PURPOSE: With the increased advances in genomics, leading health authorities have advocated the importance of incorporating genomics content into health professional school education to ensure those students achieve adequate genomic competencies. Yet, information regarding the genomics education status for this particular group is lacking. We conducted a systematic literature review to summarize the characteristics and evaluation outcomes of genomics curricula for health professional students...
December 19, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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