Genomics & Health Impact Update
Volume 32 Number 3 January 23- 30, 2014About the Update
Contents of the week
- Smoking, Genomics & Health
- More on the $1000 Genome
- More on Oversight of DTC Genomic Tests
- Cervical Cancer, Genomics & Prevention
- Hemophilia, Genetics & Public Health
- Measuring Impact of Science
- Genomics: What Gets Measured Gets Done
- Genomics & Risk Prediction
- Influenza: Genomics & Severity
- Preterm Birth, Genomics & Public Health
NIH awards $1.6M in microRNA research grants in January, Genome Web, Jan 20 [by free subscription only]
Genetic Alliance announces funding for outreach and education programs, [PDF 123.72 KB] Genetic Alliance, Jan 17
Clinical utility of a plasma-based miRNA signature classifier within computed tomography lung cancer screening: A correlative MILD trial study
Sozzi G, et al. J Clin Oncol 2014 Jan
ColoRectal Cancer Predicted Risk Online (CRC-PRO) Calculator Using Data from the Multi-Ethnic Cohort Study
Wells B, et al. J Am Board Fam Med. 2014 Jan-Feb;27(1):42-55.
New online individual risk calculator for colorectal cancer, Cancer Network, Jan 14
Impact of rapid genetic counselling and testing on the decision to undergo immediate or delayed prophylactic mastectomy in newly diagnosed breast cancer patients: findings from a randomised controlled trial
Wevers MR, et al. Br J Cancer 2014 Jan
Integrated analysis of germline and somatic variants in ovarian cancer
Kanchi K, et al. Nature Communications 5, Article number:3156
Interest and informational preferences regarding genomic testing for modest increases in colorectal cancer risk
Anderson AE, et al. Public Health Genomics 2014 Jan
MicroRNA biomarkers in whole blood for detection of pancreatic cancer
Schultz N, et al. JAMA. 2014;311(4):392-404.
Prostate cancer incidence in males with Lynch syndrome
Haraldsdottir S, et al. Genet Med 2014 Jan
Psychosocial Aspects of Hereditary Cancer (PAHC) questionnaire: development and testing of a screening questionnaire for use in clinical cancer genetics
Eijzenga W, et al. Psychooncology 2014 Jan
Randomized noninferiority trial of telephone versus in-person genetic counseling for hereditary breast and ovarian cancer
Schwartz M, et al. Journal of Clinical Oncology. 2014 Jan 21
Genetic counseling via telephone as effective as in-person counseling, EurekAlert, Jan 21
The application of Oncotype DX in early-stage lymph-node-positive disease
Jain S & Gradishar WJ Curr Oncol Rep 2014 Jan;16(1):360
The efficacy of a standardized questionnaire in facilitating personalized communication about problems encountered in cancer genetic counseling: design of a randomized controlled trial
Eijzenga W, et al. BMC Cancer 2014 Jan;14(1):26
What factors impact upon a woman's decision to undertake genetic cancer testing?
Quinlivan JA, et al. Front Oncol 2014 Jan;3:325
Cancer genomics, the way forward: Nobel laureate, The Hindu, Jan 22
Attitudes of parents toward the return of targeted and incidental genomic research findings in children
Fernandez CV, et al. Genet Med 2014 Jan
FDA authorization of medical devices
Jin J JAMA. 2014;311(4):435.
Integrating genomics into clinical oncology: Ethical and social challenges from proponents of personalized medicine
McGowan ML, et al. Urol Oncol 2014 Feb;32(2):187-92
Just caring: Assessing the ethical and economic costs of personalized medicine
Fleck LM Urol Oncol 2014 Feb;32(2):202-6
Medicare slashes payment for BRCA test
McCarthy M BMJ 2013;347:f7709
Policy challenges of clinical genome sequencing
Wright CF, et al. BMJ 2013;347:f6845
Trends in genetic patent applications: the commercialization of academic intellectual property.
Kers JG, et al. Eur J Hum Genet. 2014 Jan 22.
Preimplantation genetic diagnosis. How should labs grapple with ethics? By Karen Appold, Clinical Laboratory News, January 2014
Availability and quality of coronary heart disease family history in primary care medical records: implications for cardiovascular risk assessment
Dhiman P, et al. PLoS One 2014;9(1):e81998
EFNS/ENS consensus on the diagnosis and management of chronic ataxias in adulthood
van de Warrenburg BP, et al. Eur J Neurol 2014 Jan
Insufficient referral for genetic counseling in the management of hereditary haemochromatosis in Portugal: A study of perceptions of health professionals requesting HFE genotyping.
Leandro B et al. J Genet Couns. 2014 Jan 8
Knowledge, attitudes, and barriers to carrier screening for the Ashkenazi Jewish panel: a Florida experience : Education and Barriers assessment for Jewish Genetic Diseases
Warsch JR, et al. J Community Genet 2014 Jan
Stakeholder consultation insights on the future of genomics at the clinical-public health interface
Modell SM, et al. Transl Res 2013 Dec
The personalized advantage index: translating research on prediction into individualized treatment recommendations. A demonstration
Derubeis RJ, et al. PLoS One 2014;9(1):e83875
Genomic educational resources for pharmacists added to G2C2 website, by Jeannine Mijoseth, NHGRI, Jan 21
Clinical Utility Gene Card for: Phosphomannomutase 2 deficiency
Jaeken J, et al. Eur J Hum Genet 2014 Jan
Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation
Watts GF, et al. Int J Cardiol 2013 Nov
Position of the Academy of Nutrition and Dietetics: Nutritional Genomics
Camp KM & Trujillo E J Acad Nutr Diet 2014 Feb;114(2):299-312
Position statement on opportunistic genomic screening from the Association of Genetic Nurses and Counsellors (UK and Ireland).
Middleton A et al. Eur J Hum Genet. 2014 Jan 8.
Newborn screening for Fragile X syndrome.
Tassone F. JAMA Neurol. 2014 Jan 6.
Newborn screening and carrier screening for cystic fibrosis: alternative or complementary?
Castellani C, Massie J. Eur Respir J. 2014 Jan;43(1):20-3.
An evaluation of pharmacogenomic information provided by five common drug information resources
Vaughan KT, et al. J Med Libr Assoc 2014 Jan;102(1):47-51
EMA initiatives and perspectives on pharmacogenomics
Ehmann F, et al. Br J Clin Pharmacol 2014 Jan
The cost-effectiveness of a pharmacogenetic test: A trial-based evaluation of TPMT genotyping for azathioprine
Thompson AJ, et al. Value Health 2014 Jan;17(1):22-33
From Down syndrome screening to noninvasive prenatal testing: 20 years' experience in Taiwan
Shaw SW, et al. Taiwan J Obstet Gynecol 2013 Dec;52(4):470-4
Non-invasive prenatal testing for trisomy 21: a cross-sectional survey of service users' views and likely uptake
Lewis C, et al. BJOG 2014 Jan
Finding a doctor who supports genetic screening during I.V.F., International New York Times, Jan 21
Prospect of cheaper non-invasive prenatal test for Down's syndrome, by Dr Philippa Brice, PHG Foundation, Jan 17
Autism spectrum disorder: interaction of air pollution with the MET receptor tyrosine kinase gene.
Volk HE, et al. Epidemiology. 2014 Jan;25(1):44-7.
New evidence of gene–environment interaction in autism, by Kelly Lenox, NIEH, Environmental Factor, January, 2014
Effects of insufficient sleep on circadian rhythmicity and expression amplitude of the human blood transcriptome
Möller-Levet CS, et al. Proc Natl Acad Sci U S A. 2013 Mar 19;110(12):E1132-41.
Genetic and health impact of sleep deprivation, by Philippa Brice, Jan 22
Healthcare workers’ hand microbiome may mediate carriage of hospital pathogens.
Mariana Rosenthal et al. Pathogens, January 2014
How to use a subgroup analysis: Users' guide to the medical literature
Sun X, et al. JAMA. 2014;311(4):405-411.
A polygenic burden of rare disruptive mutations in schizophrenia
Purcell S, et al. Nature 2014 Jan 22
Validation of PhenX measures in the personalized medicine research project for use in gene/environment studies
McCarty CA, et al. BMC Med Genomics 2014;7(1):3
A field guide to genomics research
Andrea H. Bild et al. PloS Biology, January 7, 2014
P-values in genomics: Apparent precision masks high uncertainty
L C Lazzeroni et al, Molecular Psychiatry 14 January 2014
The genomic and functional characteristics of disease genes
Andrew Collins. Briefing in Functional Genomics, December 2013
The shrinking human protein coding complement: are there fewer than 20,000 genes?
Iakes Ezkurdia et al. BioRXIV, January 2014
What is personalized medicine? Stand up to cancer video, You Tube, January 2014
Genetic screening can protect relatives after sudden death, PHG Foundation, Jan 21
Cheap genome tests to predict future illness? Don't hold your breath, by Clara Gaff, The Conversation, Jan 20
Gene therapy success prevents blindness, by Dr Philippa Brice, PHG Foundation, Jan 17
Human microbiome, vitamin E for Alzheimer’s, tweets, $1000 genome, by Tabitha M. Powledge, PLoS Blogs Jan 17
When science isn’t science-based, by Julia Belluz, Macleans, Jan 17
New device may put DNA testing in doctors' hands, by Wynne Parry, Fox News, Jan 17
Fostering open science, by Susan Gregurick, NIGMS feedback loop, December 2013
Genomics and other databases issue.
Nucleic Acid Research Volume 42 Issue D1 January 1,2014
CDC authors are indicated in bold
Scientific reporting is suboptimal for aspects that characterize genetic risk prediction studies: a review of published articles based on the Genetic RIsk Prediction Studies statement.
Iglesias AI, Mihaescu R, Ioannidis JP, Khoury MJ, Little J, van Duijn CM, Janssens AC. J Clin Epidemiol. 2014 Jan 7
Increasing value and reducing waste in research design, conduct, and analysis.
John P A Ioannidis, Sander Greenland, Muin J Khoury, Malcolm R Macleod, David Moher, Kenneth F Schulz, Robert Tibshirani Lancet. 2014 Jan 11;383(9912):166-75.
Multilocus sequence typing of Enterocytozoon bieneusi in nonhuman primates in China.
Karim MR, Wang R, He X, Zhang L, Li J, Rume FI, Dong H, Qi M, Jian F, Zhang S, Sun M, Yang G, Zou F, Ning C, Xiao L. Vet Parasitol. 2013 Dec 14.
Population genetic and admixture analyses of Culex pipiens complex (Diptera: Culicidae) populations in California, United States
Kothera L, Nelms BM, Reisen WK, Savage HM. Am J Trop Med Hyg. 2013 Dec;89(6):1154-67.
Total body skin examination for skin cancer screening among U.S. adults from 2000 to 2010.
Lakhani NA, Saraiya M, Thompson TD, King SC, Guy GP Jr. Prev Med. 2014 Jan 10. pii: S0091-7435(14)00020-6.
Genetic analysis of G12P rotaviruses detected in the largest U.S. G12 genotype outbreak on record
Mijatovic-Rustempasic S, Teel EN, Kerin TK, Hull JJ, Roy S, Weinberg GA, Payne DC, Parashar UD, Gentsch JR, Bowen MD. Infect Genet Evol. 2013 Nov 21;21c:214-219.
A public health economic assessment of hospitals' cost to screen newborns for critical congenital heart disease.
Peterson C, Grosse SD, Glidewell J, Garg LF, Van Naarden Braun K, Knapp MM, Beres LM, Hinton CF, Olney RS, Cassell CH. Public Health Rep. 2014 Jan;129(1):86-93.
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