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Genomics & Health Impact Update

Volume 32   Number 9   March 6 - 12, 2014  Previous Issue  Back Issues About the Update

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Reports and Publications

Ethics, Policy & Law

stacked books with a gavel infront of them

A human rights approach to an international code of conduct for genomic and clinical data sharing
Knoppers BM, et al. Hum Genet 2014 Feb

Identifying personal genomes by surname inference.
Gymrek M, et al. Science. 2013 Jan 18;339(6117):321-4.

Scientists explore safeguards for genomic data privacy, Medical Press, Mar 1

Anonymous genetic profiles aren't completely anonymous, by Sarah Witman, Inside Science, Feb 27

In the absence of evidentiary harm, existing societal norms regarding parental authority should prevail
Strong K, et al. The American Journal of Bioethics Volume 14, Issue 3, 2014

Industry involvement in publicly funded biobanks
Timothy Caulfield et al. Nature Reviews Genetics 25 February 2014

Innovation, risk, and patient empowerment: the FDA-mandated withdrawal of 23andMe's personal genome service
Downing NS & Ross JS JAMA 2014 Feb;311(8):793-4

Return of genomic results in the genomic medicine projects of the eMERGE Network
Iftikhar J. Kullo et al. Frontiers in Genetics, February 2014   

Scientists explore safeguards for genomic data privacy, by Nancy Owano, Medical Xpress Mar 1

Whole genome sequencing is here to stay. What does that mean for genetic privacy?  Véronique LaCapra, Northern Public Radio, Feb 26

Family History

a family

Pilot trial of an electronic family medical history in US faith-based communities
Newcomb P, et al. J Prim Care Community Health 2014 Feb

Genomic Tests & Practice

a doctor pointing to an item

A genetic counseling intervention to facilitate family communication about inherited conditions
Gaff C & Hodgson J J Genet Couns 2014 Mar

An assessment of time involved in pre-test case review and counseling for a whole genome sequencing clinical research program
Williams JL, et al. J Genet Couns 2014 Feb

Clinical utility gene card for: Phosphomannose isomerase deficiency
Jaeken J, et al. Eur J Hum Genet 2014 Feb

Clinical utility gene card for: Transient neonatal diabetes mellitus, 6q24-related
Mackay D, et al. Eur J Hum Genet 2014 Feb

Clinical utility gene card for: Williams-Beuren syndrome
Koehler U, et al. Eur J Hum Genet 2014 Feb

Impact of delivery models on understanding genomic risk for type 2 diabetes
Haga SB, et al. Public Health Genomics 2014 Feb

Patients' perceptions and experiences of familial hypercholesterolemia, cascade genetic screening and treatment
Hardcastle SJ, et al. Int J Behav Med 2014 Mar

Rationale and design of the familial hypercholesterolemia foundation CAscade SCreening for Awareness and DEtection of Familial Hypercholesterolemia registry
O'Brien EC, et al. Am Heart J 2014 Mar;167(3):342-9.e17

Results of the College of American Pathology/American College of Medical Genetics and Genomics external proficiency testing from 2006 to 2013 for three conditions prevalent in the Ashkenazi Jewish population
Feldman GL, et al. Genet Med 2014 Feb

The incorporation of predictive genomic testing into genetic counseling programs
Noss R, et al. J Genet Couns 2014 Mar

Vision and change through the Genome Consortium for Active Teaching Using Next-Generation Sequencing (GCAT-SEEK)
Buonaccorsi V, et al. CBE Life Sci Educ 2014 Spring;13(1):1-2

Guidelines & Recommendations

chess pieces with arrows pointing up

Updated guidelines for colon cancer, [PDF 1.30 MB] NCCN Clinical Practice Guidelines in Oncology, March 2014 [by free subscription only]

NCCN updates guidelines for hereditary colon cancer testing, Yahoo, Mar 4

Newborn Screening


a pharmacist helping a woman

Global pharmacogenomics: Where is the research taking us?
Olivier C & Williams-Jones B Glob Public Health 2014 Feb

Reproductive Health

Public Health Sciences

a globe surrounded by computer monitors with images of people with are connected to each other

Accurate and robust prediction of genetic relationship from whole-genome sequences
Hong Li, et al. PloS One February 28, 2014

Assessing single nucleotide variant detection and genotype calling on whole-genome sequenced individuals.
Cheng AY, et al. Bioinformatics. 2014 Feb 27.

Biomarker profiling by nuclear magnetic resonance spectroscopy for the prediction of all-cause mortality: An observational study of 17,345 persons
Fisher K, et al. PLoS Med 2014 Feb 25

Economic utility of a blood-based genomic test for the assessment of patients with symptoms suggestive of obstructive coronary artery disease
Hochheiser LI, et al. Popul Health Manag 2014 Feb

Gene editing of CCR5 in autologous CD4 T cells of persons infected with HIV
Tebas P, et al. N Engl J Med. 2014 Mar 12

Engineering cellular resistance to HIV
Kay M and Walker B N Engl J Med 2014; 370:968-969 March 6, 2014

A genotype-first approach to defining the subtypes of a complex disease.
H Stessman, Cell, February 2014

Harvard Personal Genome Project: lessons from participatory public research [PDF 460.59 KB]
Madeleine P Ball et al. Genome Medicine, February 2014

A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders.
Sébastien Jacquemont et al. Am J Hum Genetics, February 26, 2014

Loss-of-function mutations in SLC30A8 protect against type 2 diabetes
Jason Flannick et al. Nature Genetics, March 2, 2014

Rare mutation kills off gene responsible for diabetes, by Gina Kolata, The New York Times, Mar 2

A penalized robust method for identifying gene–environment interactions
Xingjie Shi et al. Genetic Epidemiology, February 2014

Reviews, News & Commentaries

stacked papers

CRISPR-Cas systems for editing, regulating and targeting genomes
Sander J, et al. Nature Biotechnology (2014) Mar 2

The rise of big data, by Nancy B. Williams, March 2014 Clinical Laboratory News: Volume 40, Number 3

3-D changes in DNA may lead to a genetic form of Lou Gehrig's disease, NIH News, Mar 5

Epigenetics: The sins of the father: The roots of inheritance may extend beyond the genome, but the mechanisms remain a puzzle, by Virginia Hughes, Nature News, Mar 5

Global Alliance for genomics & health: losing sight of health? By Dr Philippa Brice, PHG Foundation, Mar 5

Global Alliance focused on responsible data sharing shows progress in standards development and membership at first partner meeting, [PDF 423.38 KB] Global Alliance, Mar 4

International scientists convene to chart path, measure progress toward global vaccine research and development, NIAID, Mar 3

Top 10 emerging technologies for 2014, World Economic Forum, Mar

A powerful new way to edit DNA, by Andrew Pollack, New York Times, Mar 3

Health care providers can help accelerate hereditary cancer research, FORCE, Mar 3

Tracking genes on the path to genetic treatment, BioScience Technology Blog, Mar 3

RNA World 2.0. Most scientists believe that ribonucleic acid played a key role in the origin of life on Earth, but the versatile molecule isn’t the whole story, by Jef Akst, the Scientist, Mar 1

Kaiser Permanente, UCSF provide 55 billion bits of genetic data to researchers, Chris Rauber, San Francisco Business Times, Feb 26

Tools and Databases

numbers on a grid

The HuGENavigator database now has almost 90K publications including ~2750 genomewide association studies & > 5500 meta analyses

Did you know that the HuGENavigator Phenopedia provides a disease-centered view of genetic association studies summarized in the online Human Genome Epidemiology (HuGE) encyclopedia. Users can also switch to a gene-centered view (Genopedia)

The GAPP Finder of the GAPPKb database now has 547 genomic tests that have been suggested for use in clinical research and practice. Check it out

The Cancer Genomics and Epidemiology Navigator provides regularly updated linked information on NCI-funded cancer epidemiology & genomics research grants, peer-reviewed publications, and evidence-based cancer genomic tests

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CDC-Authored Genomics Publications

hand holding a pen on an article

CDC authors are indicated in bold

Application of a reverse dot blot DNA-DNA hydridization method to quantify host-feeding tendencies of two sibling species in the Anopheles gambiae complex
Fritz ML, Miller JR, Bayoh MN, Vulule JM, Landgraf JR, Walker ED. Med Vet Entomol. 2013 Dec;27(4):398-407.

Deletion of the NSm virulence gene of Rift Valley fever virus inhibits virus replication in and dissemination from the midgut of Aedes aegypti mosquitoes
Kading RC, Crabtree MB, Bird BH, Nichol ST, Erickson BR, Horiuchi K, Biggerstaff BJ, Miller BR. PLoS Negl Trop Dis. 2014 Feb;8(2):e2670.

Evolution and structural organization of the C proteins of paramyxovirinae.
Lo MK, Søgaard TM, Karlin DG. PLoS One. 2014 Feb 25;9(2):e90003.

Human papillomavirus genotype prevalence in invasive penile cancers from a registry-based United States population
Hernandez BY, Goodman MT, Unger ER, Steinau M, Powers A, Lynch CF, Cozen W, Saber MS, Peters ES, Wilkinson EJ, Copeland G, Hopenhayn C, Huang Y, Watson M, Altekruse SF, Lyu C, Saraiya M. Front Oncol. 2014 ;4:9.

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-2014 Feb;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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