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Genomics & Health Impact Update

Volume 32   Number 3   January 23- 30, 2014About the Update

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Select Events

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American College of Medical Genetics, March 25-29, Nashville, Tennessee

World Primary Immune Deficiency Week, April 22-29, 2014

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Reports and Publications


Doctor Explaining Diagnosis To Her Female Patient

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.

ColoRectal Cancer Predicted Risk Online (CRC-PRO) for men

ColoRectal Cancer Predicted Risk Online (CRC-PRO) for women

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

Genomic Tests

a hand holding blood samples

Clinical Utility Gene Card for: Phosphomannomutase 2 deficiency
Jaeken J, et al. Eur J Hum Genet 2014 Jan

Newborn Screening

a newborn foot

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.


Reviews & Commentaries on Science & Technology

stacked papers

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

Tools and Databases

numbers on a grid

Genomics and other databases issue.
Nucleic Acid Research Volume 42 Issue D1 January 1,2014

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CDC-Authored Genomics Publications

hand holding a pen on an article

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[8] 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.

View previous CDC-authored publications

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About the Genomics & Health Impact Update

The Update includes  genomics and health impact news and publications, CDC announcements, reports, blogs, podcasts, and other products. The Update features genomic tests, family history, programs and practice, policy and legislation and public health science.  To receive the update electronically every week sign-up here.


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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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