Genomics & Health Impact Update
Volume 32 Number 1 January 8- 16, 2014About the Update
Contents of the week
Miami 2014 Winter Symposium: The Molecular Basis of Brain Disorders
January 26-29 ~ Miami, FL
New Frontiers in the Discovery and Treatment of Thrombosis (A6)
January 26-30 ~ Keystone, CO
January 28-30 ~ Boston, MA
Cancer Susceptibility and Cancer Susceptibility Syndromes
January 29 - February 1 ~ San Diego, CA
Active approach for breast cancer genetic counseling during radiotherapy: long-term psychosocial and medical impact
Baars JE, et al. Clin Genet 2013 Dec
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Thompson BA et al. Nat Genet. 2013 Dec 22
Better genetic risk prediction for colorectal and womb cancer, by Dr Philippa Brice, PHG Foundation, Jan 6, 2014
Assessment of family history of colorectal cancer in primary care: Perceptions of first degree relatives of people with colorectal cancer
Cameron E, et al. Patient Educ Couns 2013 Dec
Breast cancer knowledge and screening behaviour among women with a positive family history: A cross sectional study
Subramanian P, et al. Asian Pac J Cancer Prev 2013;14(11):6783-90
Discovery and saturation analysis of cancer genes across 21 tumour types
Michael S. Lawrence et al. Nature, Jan 5, 2014
Early-onset colorectal cancer patients without family history are "at very low risk" for Lynch syndrome
Stigliano V, et al. J Exp Clin Cancer Res 2014 Jan;33(1):1
Mutation spectrum in South American Lynch syndrome families [PDF 563.39 KB]
Mev Dominguez-Valentin et al. Hereditary Cancer in Clinical Practice 2013, 11:18 doi:10.1186/1897-4287-11-18
The impact of the Oncotype DX recurrence score on treatment decisions and clinical outcomes in patients with early breast cancer: the Maccabi Healthcare Services experience with a unified testing policy
Siegelmann-Danieli N, et al. Ecancermedicalscience 2013;7:380
Lynch syndrome presenting as endometrial cancer.
Tafe LJ, et al. Clin Chem. 2014 Jan;60(1):111-21.
Evidence warrants screening patients with endometrial cancer for Lynch syndrome, Oncology Nurse Advisor, Jan 6, 2014
Report: Screen uterine cancer patients for Lynch syndrome, by Meghan Pierce, New Hampshire Union Leader, Dec 2013
Getting close and personal. Researchers and drug companies are ganging up for a new push against cancer. The Economist, Jan 4, 2014
Why everyone seems to have cancer, by George Johnson, New York Times, Jan 4, 2014
Medicare slashes reimbursement for BRCA gene testing, Medscape, Jan 3, 2013
Informed decision-making among students analyzing their personal genomes on a whole genome sequencing course: a longitudinal cohort study
Sanderson SC, et al. Genome Med 2013 Dec;5(12):113
Incidental findings report is timely, Maneesha Sakhuja, Bioethics.gov blog, Dec 30, 2013
Essential elements of personalized medicine.
Burke W, et al. Urol Oncol. 2013 Dec 6.
Joshua W Knowles and Emily Youngblom GeneReviews 2014 Jan 2
Genomics, personalized medicine, and pediatrics.
Feero WG, et al. Acad Pediatr. 2014 Jan-Feb;14(1):14-22.
Importance of psychiatric examination in predictive genetic testing for Huntington disease
Uhrova T, et al. Neurol Neurochir Pol 2013 Nov-2013 Dec;47(6):534- 41
Validation for clinical use of, and initial clinical experience with, a novel approach to population-based carrier screening using high-throughput, next-generation DNA sequencing
Hallam S, et al. J Mol Diagn 2013 Dec
Wheezing in children with sickle cell disease.
Glassberg JA, Strunk R, Debaun MR. Curr Opin Pediatr. 2013 Dec 24.
NCHPEG, The Jackson Laboratory, and partners two new educational programs for pediatric and neurology providers.
Genomics for child neurology is a program for child neurology educators and clinicians that addresses genomic risk assessment, genetic and genomic testing, and communication with families about genomic data.
ABCs of chromosomal microarray is a resource for developmental and behavioral pediatricians on indications for and interpretation of chromosomal microarray (CMA).
Nanopore DNA sequencing: New approaches to an old challenge- In the fast-paced world of DNA sequencing, nanopores are all the rage, by Steven Benowitz, National Human Genome Research Institute, Dec 24, 2103
Rapid whole-genome sequencing for detection and characterization of microorganisms directly from clinical samples
Hasman H, et al. J Clin Microbiol 2014;52(1):139-146.
ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis).
Hegde M, et al. Genet Med. 2013 Dec 5.
Groups release new, updated guidelines to reduce heart disease risk factors
Mike Mitka, MSJ . JAMA. 2013;310(24):2602-2604
Recommendations for the nutrition management of phenylalanine hydroxylase deficiency
Singh RH, et al. Genet Med 2014 Jan
The updated ASCO/CAP guideline recommendations for HER2 testing in the management of invasive breast cancer: critical review of their implications for routine practice
Rakha EA, et al. Histopathology 2013 Dec
A questionnaire-based study on parental satisfaction with a universal newborn hearing screening program in Kuala Lumpur, Malaysia
Mazlan R, et al. Int J Pediatr Otorhinolaryngol 2013 Dec
National study of newborn hearing screening: programme sensitivity and characteristics of undetected children
Korver AM, et al. B-ENT 2013;Suppl 21:37-44
Towards newborn screening for ornithine transcarbamylase deficiency: Fast non-chromatographic orotic acid quantification from dried blood spots by tandem mass spectrometry
Janzen N, et al. Clin Chim Acta 2013 Dec
Comparison of delivery strategies for pharmacogenetic testing services.
Haga SB, et al. Pharmacogenet Genomics. 2013 Dec 31.
Preemptive genotyping for personalized medicine: design of the right drug, right dose, right time-using genomic data to individualize treatment protocol.
Bielinski SJ, et al. Mayo Clin Proc. 2014 Jan;89(1):25-33.
Variant GADL1 and response to lithium therapy in bipolar I disorder.
Chien-Hsiun Chen et al. New Engl J Med, Dec 25, 2013
Clinical implementation of noninvasive prenatal testing among maternal fetal medicine specialists
Haymon L, et al. Prenat Diagn 2013 Dec
Potential diagnostic consequences of applying non-invasive prenatal testing (NIPT); a population-based study from a country with existing first trimester screening
Petersen O, et al. Ultrasound Obstet Gynecol 2013 Dec
A framework to examine the role of epigenetics in health disparities among Native Americans
Brockie TN, et al. Nurs Res Pract 2013;2013:410395
Associations between human leukocyte antigen class I variants and the mycobacterium tuberculosis subtypes causing disease
Salie M, et al. J Infect Dis. (2014) 209 (2): 216-223.
Enhancing the participation of African Americans in health-related genetic research: findings of a collaborative academic and community-based research study
Millon Underwood S, et al. Nurs Res Pract 2013;2013:749563
Fc gamma receptor 3B (FCGR3B-c.233C>A-rs5030738) polymorphism modifies the protective effect of malaria specific antibodies in Ghanaian children
Adu B, et al. J Infect Dis. (2014) 209 (2): 285-289.
Genetic characteristics of children and adolescents with long QT syndrome diagnosed by school-based electrocardiographic screening programs
Yoshinaga M, et al. Circ Arrhythm Electrophysiol 2013 Dec
IFNL4-ΔG genotype is associated with slower viral clearance in hepatitis C, genotype-1 patients treated with sofosbuvir and ribavirin
Meissner EG, et al. J Infect Dis. Dec 23, 2013
Immunochip analysis identifies multiple susceptibility Loci for systemic sclerosis.
Mayes DM, et al. Am J Hum Genet. 2014 Jan 2;94(1):47-61.
Improving the value of costly genetic reference laboratory testing with active utilization management
Dickerson JA, et al. Arch Pathol Lab Med 2014 Jan;138(1):110-3
Annotating DNA variants is the next major goal for human genetics.
Gary Cutting, Am J Hum Genetics, Jan 2014
Behavior and biology: The accidental epigeneticist.
Stephen S. Hall, Nature, Dec 30, 2013
Evidence based medicine is broken. Des Spence, general practitioner, Glasgow
BMJ 2014;348, 3 Jan 2014
Progress in genomics according to bingo: 2013 edition.
Konrad J Karczewski. Genome Biology, Dec 2013
Potential expansion of Qatari inherited disease screening, PHG Foundation, Jan 8, 2014
On genetic causality: forwards and backwards, by Kevin Mitchell, Wiring the brain, Jan 7, 2014
The Exposome, podcast from the National Institute for Environmental Health Sciences, Jan 6, 2014
The problems with genomic prediction. Need it be stated again? The Mermaid’s Tale, Jan 6, 2014
Cheaper genetic tests for breast cancer risks in 2014? MIT Technology Review, Dec 31, 2013
Seven major trend changes of 2013- (i) sequencing technology, Homolog US, Blog post, Dec 31, 2013
Genomic studies sift centenarian DNA for genes protecting against age-related diseases, by J Dorrier, SIngularity Blogpost, Dec 29 , 2013
Diabetes gene common in Latinos has ancient roots, by Michaeleen Doucleff, NPR, Dec 25, 2013
Investing in the nation’s health, Francis Collins, Director, National Institutes of Health, Dec 24, 2013
2013: A year of innovation, inspiration, by Edward Abrahams, Personalized Medicine Coalition, Dec 20, 2013
3 ways genetic knowledge is power-the goal is prepared patients, not “patients in waiting”, by Charis Eng, Cleveland Clinic, Dec 13, 2013
Moving towards a metagenomic basis of therapeutics, Peter Turnbaugh, Genome TV videocast, 2013
Using DNA methylation to examine epigenetic changes, by Robin Arnette, National Insitute for Environmental Health Sciences, Dec 2013
CDC authors are indicated in bold
Prevalence of sequence types among clinical and environmental isolates of Legionella pneumophila serogroup 1 in the United States from 1982 to 2012
Kozak-Muiznieks NA, Lucas CE, Brown E, Pondo T, Taylor TH Jr, Frace M, Miskowski D, Winchell JM. J Clin Microbiol 2014; 52(1):201-211.
Molecular signatures of antibody responses derived from a systems biology study of five human vaccines.
Li S, Rouphael N, Duraisingham S, Romero-Steiner S, Presnell S, Davis C, Schmidt DS, Johnson SE, Milton A, Rajam G, Kasturi S, Carlone GM, Quinn C, Chaussabel D, Palucka AK, Mulligan MJ, Ahmed R, Stephens DS, Nakaya HI, Pulendran B. Nat Immunol. 2013 Dec 15.
Genotypic and epidemiologic trends of norovirus outbreaks in the United States, 2009 to 2013
Vega E, Barclay L, Gregoricus N, Shirley SH, Lee D, Vinjé J. J Clin Microbiol. 2014 Jan;52(1):147-55.
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The CDC Office of Public Health Genomics makes available the above information as a public service only. The items in the update come from news articles and scientific articles and abstracts published during the past week. The headlines and lead sentences are exactly as they appear & do not necessarily reflect the opinions, recommendations, or endorsement by the CDC. Note that some links may become invalid over time.
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