Genomics & Health Impact Update
Volume 33 Number 2 July 15-24, 2014About the Update
Improving Genetics Education in Graduate and Continuing Health Professional Education Institute of Medicine's Roundtable on Translating Genomic-Based Research for Health
August 18, 2014 ~ Washington, DC
The Genomics of Common Diseases 2014
September 17-20, 2014 ~ Bolger Center, Potomac, MD
Public Workshop: Next Generation Sequencing Standards, Food and Drugs Administration
September 24-25, 2014 ~ Bethesda, MD
UK Biobank Ethics and Governance Council conference: Past, Present, Future: the Ethics and Governance of Big Biobanks
November 3-5, 2014 ~ Wellcome Trust, London, UK
Genomics: The power & the promise
November 24-26, 2014 ~ Ottowa, Ontario, Canada
The Electronic Medical Records and Genomics (eMERGE) Network, Phase III Study Investigators, National Human Genome Research Institute
National Institute of Child Health and Human Development grant opportunity entitled “Innovative Therapies and Tools for Screenable Disorders in Newborns (R03)” PAR-14-271
Molecular testing for fragile x: analysis of 5062 tests from 1105 fragile X families-performed in 12 clinical laboratories in Spain
Tejada MI, et al. Biomed Res Int 2014;2014:195793
Ten years on: Genetic screening for mitochondrial disease in Ireland
O'Brien M, et al. Clin Neuropathol 2014 Jul-2014 Aug;33(4):279-83
The Ashkenazi Jewish carrier screening panel: evolution, status quo, and disparities
Hoffman JD, et al. Prenat Diagn 2014 Jul
The burden of Duchenne muscular dystrophy: An international, cross-sectional study
Landfeldt E, et al. Neurology 2014 Jul
"It's all very well reading the letters in the genome, but it's a long way to being able to write"
Bancroft EK, et al. Fam Cancer 2014 Jul
A survey of genetic counselors about the needs of 18-25 year olds from families with hereditary breast and ovarian cancer syndrome
Werner-Lin A, et al. J Genet Couns 2014 Jul
Assessing standardization of molecular testing for non-small-cell lung cancer: results of a worldwide external quality assessment (EQA) scheme for EGFR mutation testing
Patton S, et al. Br J Cancer 2014 Jul
Cigarette smoking in women after BRCA1/2 genetic test disclosure: a 5-year follow-up study of the GENEPSO PS cohort
Julian-Reynier C, et al. Genet Med 2014 Jul
Comparative effectiveness of next generation genomic sequencing for disease diagnosis: Design of a randomized controlled trial in patients with colorectal cancer/polyposis syndromes
Gallego CJ, et al. Contemp Clin Trials 2014 Jul
Facilitating comparative effectiveness research in cancer genomics: evaluating stakeholder perceptions of the engagement process
Deverka PA, et al. J Comp Eff Res 2012 Jul;1(4):359-70
Guidance for laboratories performing molecular pathology for cancer patients
Cree IA, et al. J Clin Pathol 2014 Jul
Guidelines for the design, analysis and interpretation of 'omics' data: focus on human endometrium
Altmae S, et al. Hum Reprod Update 2014 Jan-2014 Feb;20(1):12-28
Guidelines on genetic evaluation and management of Lynch syndrome: A consensus statement by the US multi-society task force on colorectal cancer.
Giardiello FM et al. Dis Colon Rectum. 2014 Aug;57(8):1025-48
Medical genetic counseling for breast cancer in primary care: A synthesis of major determinants of physicians' practices in primary care settings
Jbilou J, et al. Public Health Genomics 2014 Jul
RAS testing of colorectal carcinoma-a guidance document from the Association of Clinical Pathologists Molecular Pathology and Diagnostics Group
Wong NA, et al. J Clin Pathol 2014 Jul
Understanding patient and provider perceptions and expectations of genomic medicine
Hall MJ, et al. J Surg Oncol 2014 Jul
Validation of the prognostic gene portfolio, ClinicoMolecular Triad Classification using an independent prospective breast cancer cohort and external patient populations
Wang DY, et al. Breast Cancer Res 2014 Jul;16(4):R71
Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: Report of an international conference
Guay-Woodford LM, et al. J Pediatr 2014 Jul
Family history as a risk factor for carotid artery stenosis
Khaleghi M, et al. Stroke 2014 Jul
Leucocyte telomere length and risk of cardiovascular disease: systematic review and meta-analysis.
Philip C Haycock, et al. BMJ, 2014; 349 July 8, 2014
The importance of the general practitioner as an information source for patients with hereditary haemochromatosis.
Teixeira E et al. Patient Educ Couns. 2014 Jul;96(1):86-92.
Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.
Marta Futema, J Med Genetics, July 2014
Public health applications of cardiovascular genomics, by Michael Vaclav Holmes, Dec 2013
Systematically identifying familial hypercholesterolaemia in primary care, [PDF 539.02 KB] Heart UK, Cholesterol Charity, July 2014
Do participants in genome sequencing studies of psychiatric disorders wish to be informed of their results? A survey study.
Elise Bui et al. PloS One, July 2014
Do recent US Supreme Court rulings on patenting of genes and genetic diagnostics affect the practice of genetic screening and diagnosis in prenatal and reproductive care?
Chandrasekharan S, et al. Prenat Diagn 2014 Jul
FTC takes action to protect consumers from false genetic advertising claims
Jennifer K. Wagner, Genomics Law Report July 3, 2014
Five principles: returning genetic testing results to research participants
Gerdes M & Terry SF Genet Test Mol Biomarkers 2014 Jul;18(7):453-4
Genetic testing: medico-legal issues
Bird S Aust Fam Physician 2014 Jul;43(7):481-2
Phase changes in the BRCA policy domain.
Modell SM, et al. J Relig Health. 2014 Jun;53(3):715-24.
Canada agency clashes with insurers on genetic testing, by Katia Dmitrieva, Bloomberg News, Jul 10
"We don't know her history, her background"
Crouch J, et al. J Genet Couns 2014 Jul
Direct-to-consumer DNA testing and the general practitioner
Trent R Aust Fam Physician 2014 Jul;43(7):436-9
Editorial: Quality assessment and control of high-throughput sequencing data.
Mick Watson. Frontiers in Genetics (2014)
eMERGEing progress in genomics-the first seven years
Crawford DC, et al. Front Genet 2014;5:184
Genetics in general practice
Blashki G, et al. Aust Fam Physician 2014 Jul;43(7):428-31
Genomic sequencing: Assessing the health care system, policy, and big-data implications.
Kathryn A. Phillips, et al. Health Affairs, July 2014
Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications.
Andy Rimmer et al. Nature Genetics, July 2014
Management of patients with hereditary hemorrhagic telangiectasia undergoing general anesthesia: a cohort from a single academic center's experience
Weingarten TN, et al. J Anesth 2013 Oct;27(5):705-11
New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy
Santos R, et al. J Hum Genet 2014 Jul
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies
Robert W. Taylor et al. JAMA, July 2, 2014
New challenges of next-gen sequencing, by Dan Koboldt, MassGenomics, Jul 10
Should patients be told about incidental findings from genetic testing? Sophia Ikura, et al. Healthy Debate, July 10, 2014
An integrated catalog of reference genes in the human gut microbiome.
Junhua Li et al. Nature Biotechnology, July 6, 2014
Public Health England focus on infectious disease genomics, by Dr Philippa Brice, PHG Foundation, Jul 14
We are our bacteria, by Jane E. Brody, New York Times, Jul 14
Disparities in current and future childhood and newborn carrier identification
Noke M, et al. J Genet Couns 2014 Jul
Parents' responses to receiving sickle cell or cystic fibrosis carrier results for their child following newborn screening
Ulph F, et al. Eur J Hum Genet 2014 Jul
Putting newborn hearing screening on the political agenda in Belgium: local initiatives toward a community programme - a qualitative study
Bénédicte Vos, et al. Health Res Policy & Systems, July 2014
Synthesis framework estimating prevalence of MCADD and sensitivity of newborn screening programme in the absence of direct evidence
Leal J, et al. J Clin Epidemiol 2014 Jul
Newborn screening adds detection of SCID, Iowa Department of Health, June 2014
Newborn screening now in 21 states for life-threatening immune disease, PR Newswire, Jul 8
Opinions, hopes and concerns regarding pharmacogenomics: a comparison of healthy individuals, heart failure patients and heart transplant recipients
Lachance K, et al. Pharmacogenomics J 2014 Jul
Striking a balance in communicating pharmacogenetic test results: Promoting comprehension and minimizing adverse psychological and behavioral response
Haga SB, et al. Patient Educ Couns 2014 Jun
The Clinical Pharmacogenetics Implementation Consortium Guideline for SLCO1B1 and Simvastatin-induced myopathy: 2014 update
L B Ramsey et al, Clin Pharma Therapeutics, July 9, 2014
Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort
Pergament E, et al. Obstet Gynecol 2014 Jul
The first 3,000 Non-Invasive Prenatal Tests (NIPT) with the Harmony test in Belgium and the Netherlands
Willems PJ, et al. Facts Views Vis Obgyn 2014;6(1):7-12
Functional genomics for personalized cancer therapy,
Jeffrey W. Tyner Science Translational Medicine, July 2, 2014
Multiple evidence strands suggest that there may be as few as 19 000 human protein-coding genes.
Iakes Ezkurdia et al. HMG, July 1, 2014
The cost of genetic testing for ocular disease: who pays?
Capasso JE Curr Opin Ophthalmol 2014 Jul
It’s not all in the genes, by Timothy Caulfield, Policy Options Blog, Jul 2014
One of a kind- what do you do if your child has a condition that is new to science? By Seth Mnookin, the New Yorker, Jul 21 [by subscription only]
The BMJ Today: Explaining telomeres, BMJ Blogs, Jul 15
The fight against type 2 diabetes: The promise of genomics, Medscape, Jul 11 [by free subscription only]
Health care professionals trained in genetics may improve quality of care and reduce unnecessary testing, Oncology Nurse Advisor, Jul 11
Genetic test use by insurance firms discouraged by privacy watchdog, CBC News, Jul 11
Maximizing the efficacy of genetic testing, GEN, Jul 10
Scaling up bioinformatics training online, Ewan's Blog, July 10
"Common disorders" are really collections of rare genetic conditions, by Kevin Mitchell, Wiring the Brain, Jul 8
With gene disorders, the mother's age matters, not the egg's, by Kara Manke, NPR News, Jul 7
GM mosquitoes could breed to extinction, leaving malaria parasite no host, Genetic Literacy Project, Jul 7
Using genetic risk and math, scientists predict which teen drinkers will develop problem, by Virgina Hughes, Genetic Literacy Project, Jul 7
We need to talk about genomics: leaving a legacy for the National Health Service, Lucia von Bredow, PHG Foundation, Jul 7
Bad teeth? Blame your genes, by Paul Frysh, CNN, Jul 3
Study identifies modifiers of breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers, by Matthew Stenger, ASCO Post, Jul 3
Genetic basis for distinct type of autism uncovered. Sleep, digestive problems common in autism linked to CHD8 gene variation, by Bobbi Nodell, HSNewsBeat, Jul 3
Wilson disease – a genetic success story, By Ricki Lewis, DNA Blog News, Jul 3
Prospects for blood test to predict breast cancer risk, PHG Foundation, Jul 3
An integrated catalog of reference genes in the human gut microbiome
Li J, et al. Nat Biotechnol. 2014 Jul 6.
GRASP: analysis of genotype–phenotype results from 1390 genome-wide association studies and corresponding open access database
Richard Leslie et al. Bioinformatics, (2014) 30 (12)
Knowledge boosting: a graph-based integration approach with multi-omics data and genomic knowledge for cancer clinical outcome prediction
Kim D, et al. J Am Med Inform Assoc 2014 Jul
The Cancer Proteome Atlas. MD Anderson Center, the University of Texas
Expanding the computational toolbox for mining cancer genomes.
Li Ding et al. Nature Reviews Genetics, July 2014
CDC authors are indicated in bold
Virus-like Particle Secretion and Genotype-dependent Immunogenicity of Dengue Virus Serotype 2 DNA Vaccine.
Galula JU, Shen WF, Chuang ST, Chang GJ, Chao DY. J Virol. 2014 Jul 9. pii: JVI.00810-14.
Characteristics of Adults in the Hepatitis B Research Network in North America Reflect Their Country of Origin and HBV Genotype.
Ghany M, Perrillo R, Li R, Belle SH, Janssen HL, Terrault NA, Shuhart MC, Lau DT, Kim WR, Fried MW, Sterling RK, Di Bisceglie AM, Han SH, Ganova-Raeva LM, Chang KM, Suk-Fong Lok A; Hepatitis B Research Network (HBRN). Clin Gastroenterol Hepatol. 2014 Jul 7. pii: S1542-3565(14)00976-8.
Association between alcohol and cardiovascular disease: Mendelian randomisation analysis based on individual participant data.
Holmes MV, Dale CE, Zuccolo L, Silverwood RJ, Guo Y, Ye Z, Prieto-Merino D, Dehghan A, Trompet S, Wong A, Cavadino A, Drogan D, Padmanabhan S, Li S, Yesupriya A, Leusink M, Sundstrom J, Hubacek JA, Pikhart H, Swerdlow DI, Panayiotou AG, Borinskaya SA, Finan C, Shah S, Kuchenbaecker KB, Shah T, Engmann J, Folkersen L, Eriksson P, Ricceri F, Melander O, Sacerdote C, Gamble DM, Rayaprolu S, Ross OA, McLachlan S, Vikhireva O, Sluijs I, Scott RA, Adamkova V, Flicker L, Bockxmeer FM, Power C, Marques-Vidal P, Meade T, Marmot MG, Ferro JM, Paulos-Pinheiro S, Humphries SE, Talmud PJ, Mateo Leach I, Verweij N, Linneberg A, Skaaby T, Doevendans PA, Cramer MJ, Harst Pv, Klungel OH, Dowling NF, Dominiczak AF, Kumari M, Nicolaides AN, Weikert C, Boeing H, Ebrahim S, Gaunt TR, Price JF, Lannfelt L, Peasey A, Kubinova R, Pajak A, Malyutina S, Voevoda MI, Tamosiunas A, Maitland-van der Zee AH, Norman PE, Hankey GJ, Bergmann MM, Hofman A, Franco OH, Cooper J, Palmen J, Spiering W, Jong PA, Kuh D, Hardy R, Uitterlinden AG, Ikram MA, Ford I, Hyppönen E, Almeida OP, Wareham NJ, Khaw KT, Hamsten A, Husemoen LL, Tjønneland A, Tolstrup JS, Rimm E, Beulens JW, Verschuren WM, Onland-Moret NC, Hofker MH, Wannamethee SG, Whincup PH, Morris R, Vicente AM, Watkins H, Farrall M, Jukema JW, Meschia J, Cupples LA, Sharp SJ, Fornage M, Kooperberg C, LaCroix AZ, Dai JY, Lanktree MB, Siscovick DS, Jorgenson E, Spring B, Coresh J, Li YR, Buxbaum SG, Schreiner PJ, Ellison RC, Tsai MY, Patel SR, Redline S, Johnson AD, Hoogeveen RC, Hakonarson H, Rotter JI, Boerwinkle E, Bakker PI, Kivimaki M, Asselbergs FW, Sattar N, Lawlor DA, Whittaker J, Davey Smith G, Mukamal K, Psaty BM, Wilson JG, Lange LA, Hamidovic A, Hingorani AD, Nordestgaard BG, Bobak M, Leon DA, Langenberg C, Palmer TM, Reiner AP, Keating BJ, Dudbridge F, Casas JP; InterAct Consortium. BMJ. 2014 Jul 10;349:g4164.
State-based surveillance for selected hemoglobinopathies.
Hulihan MM, Feuchtbaum L, Jordan L, Kirby RS, Snyder A, Young W, Greene Y, Telfair J, Wang Y, Cramer W, Werner EM, Kenney K, Creary M, Grant AM. Genet Med. 2014 Jul 3.
Draft Genome Sequence of Environmental Vibrio cholerae 2012EL-1759 with Similarities to the V. cholerae O1 Classical Biotype.
Katz LS, Turnsek M, Kahler A, Hill VR, Boyd EF, Tarr CL. Genome Announc. 2014 Jul 10;2(4). pii: e00617-14.
A pyrosequencing-based assay for the rapid detection of the 22q11.2 deletion in DNA from buccal and dried blood spot samples
Koontz D, Baecher K, Kobrynski L, Nikolova S, Gallagher M. J Mol Diagn. 2014 Jun 25.
Nocardia vulneris sp. nov., isolated from wounds of human patients in North America.
Lasker BA, Bell M, Klenk HP, Spröer C, Schumann P, Brown JM. Antonie Van Leeuwenhoek. 2014 Jul 12.
Draft Whole-Genome Sequences of Nine Non-O157 Shiga Toxin-Producing Escherichia coli Strains.
Lindsey RL, Trees E, Sammons S, Loparev V, Frace M, Strockbine N, Sabol AL, Sowers E, Stripling D, Martin H, Knipe K, Rowe L, Gerner-Smidt P. Genome Announc. 2014 Jul 10;2(4). pii: e00501-14.
Immunoglobulin genes influence the magnitude of humoral immunity to cytomegalovirus glycoprotein B
Pandey JP, Kistner-Griffin E, Radwan FF, Kaur N, Namboodiri AM, Black L, Butler MA, Carreon T, Ruder AM. J Infect Dis. 2014 Jun 27.
Genomic analysis of the causative agents of coccidiosis in domestic chickens.
Reid AJ, Blake DP, Ansari HR, Billington K, Browne HP, Bryant JM, Dunn M, Hung SS, Kawahara F, Miranda-Saavedra D, Malas T, Mourier T, Naghra H, Nair M, Otto TD, Rawlings ND, Rivailler P, Sanchez-Flores A, Sanders M, Subramaniam C, Tay YL, Woo Y, Wu X, Barrell B, Dear PH, Doerig C, Gruber A, Ivens AC, Parkinson J, Rajandream MA, Shirley MW, Wan KL, Berriman M, Tomley FM, Pain A. Genome Res. 2014 Jul 11. pii: gr.168955.113.
CDC Commentary: Utility before business.
Teutsch SM, Fielding JE, Khoury MJ, Evans JP. Genet Med. 2014 Jul 10.
Advances in Laboratory Methods for Detection and Typing of Norovirus.
Vinjé J. J Clin Microbiol. 2014 Jul 2. pii: JCM.01535-14.
Molecular analysis of single oocyst of Eimeria by whole genome amplification (WGA) based nested PCR.
Wang Y, Tao G, Cui Y, Lv Q, Xie L, Li Y, Suo X, Qin Y, Xiao L, Liu X. Exp Parasitol. 2014 Jul 1. pii: S0014-4894(14)00167-2.
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