Genomics & Health Impact Update
Volume 32 Number 11 March 20 - 27, 2014About the Update
Features of the Week
Current Topics in Genome Analysis 2014- National Human Genome Research Institute A lecture series covering contemporary areas in genomics and bioinformatics, February 26 - June 4, 2014, Bethesda, MD
Translational Science 2014 Meeting, April 9-11, 2014, Washington DC
Medicine 2.0: Social Media, Mobile Apps, and Internet/Web 2.0 in Health, Medicine and Biomedical Research, October 9-10, 2014, Malaga, Spain
Core Infrastructure and Methodological Research for Cancer Epidemiology Cohorts, National Cancer Institute March 19, 2014
Genomics and Health Informatics Fellowship, CDC Division of Laboratory Programs, Standards and Services
Analysis of current testing practices for biallelic MUTYH mutations in MUTYH-associated polyposis
Landon M, et al. Clin Genet 2014 Mar
Attitudes and compliance of clinical management after genetic testing for hereditary breast and ovarian cancer among high-risk Southern Chinese females with breast cancer history
Kwong A, et al. Fam Cancer 2014 Mar
Comparing universal Lynch syndrome tumor-screening programs to evaluate associations between implementation strategies and patient follow-through
Cragun D, et al. Genetics in Medicine (2014) Mar 20
Guideline recommendations for testing of gene rearrangement in lung cancer: A proposal of the Korean Cardiopulmonary Pathology Study Group
Kim H, et al. Korean J Pathol 2014 Feb;48(1):1-9
Interest and informational preferences regarding genomic testing for modest increases in colorectal cancer risk
Anderson A.E et al. Public Health Genomics, March 2014
Multitarget stool DNA testing for colorectal-cancer screening
Imperiale T, et al. New England Journal of Medicine Mar 2014
Stool DNA and colorectal-cancer screening
Robertson D, et al. New England Journal of Medicine Mar 19
Promising outcomes of screening for pancreatic cancer by genetic testing and endoscopic ultrasound
Sud A, et al. Pancreas 2014 Apr;43(3):458-61
Role of tumour molecular and pathology features to estimate colorectal cancer risk for first-degree relatives
Win AK, et al. Gut 2014 Mar
Screening for prostate cancer with the prostate-specific antigen test: A review of current evidence
Julia H. Hayes, MD1; Michael J. Barry, JAMA March 18, 2014
The clinical utility of genetic testing in breast cancer kindreds: a prospective study in families without a demonstrable BRCA mutation
Moller P, et al. Breast Cancer Res Treat 2014 Mar
The state of cancer care in America, 2014: a report by the American Society of Clinical Oncology.
American Society of Clinical Oncology. J Oncol Pract. 2014 Mar 1;10(2):119-42.
23andMe and the FDA.
Annas GJ, Elias S. N Engl J Med. 2014 Mar 13;370(11):985-8.
FDA wins high-profile support in consumer genetics kerfuffle, The Los Angeles Times, Mar 13
Return of results: Ethical and legal distinctions between research and clinical care
Burke W, et al. Am J Med Genet C Semin Med Genet 2014 Mar
Ruling helps rein in the wild west of genetic testing, by Karuna Jaggar, SF Gate, Mar 17
A family history questionnaire improves detection of women at risk for hereditary gynecologic cancer: a pilot study
Koeneman MM, et al. Fam Cancer 2014 Mar
Climbing the branches of a family tree: Diagnosis of fragile X syndrome
Visootsak J, et al. J Pediatr 2014 Mar
Implementing family health history risk stratification in primary care: Impact of guideline criteria on populations and resource demand
Orlando LA, et al. Am J Med Genet C Semin Med Genet 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 27.
Careful case review can avoid costly testing, Geisinger clinical whole-genome sequencing study finds, Genome Web, Mar 12 [by free subscription only]
Cardiovascular risk assessment of dyslipidemic children: analysis of biomarkers for the correct assessment of monogenic dyslipidemia.
Ana Margarida Medeiros et al., J Lipid Research, March 2014
Characterizing genetic variants for clinical action
Ramos EM, et al. Am J Med Genet C Semin Med Genet 2014 Mar
Clinical predictors of a positive genetic test in hypertrophic cardiomyopathy in the Brazilian population
Marsiglia JD, et al. BMC Cardiovasc Disord 2014 Mar;14(1):36
Clinical utility gene card for: Dent disease (Dent-1 and Dent-2)
Ludwig M, et al. Eur J Hum Genet 2014 Mar
Family physicians' self-perceived importance of providing genetic test information to patients: A cross-sectional study from Slovenia
Klemenc-Ketis Z & Peterlin B Med Sci Monit 2014;20:434-7
Genomic medicine implementation: Learning by example
Williams MS Am J Med Genet C Semin Med Genet 2014 Mar
Implementing individualized medicine into the medical practice
Lazaridis KN, et al. Am J Med Genet C Semin Med Genet 2014 Mar
Improving family communication after a new genetic diagnosis: a randomised controlled trial of a genetic counselling intervention
Hodgson JM, et al. BMC Med Genet 2014 Mar;15(1):33
Leading the way to genomic medicine
Manolio TA & Green ED Am J Med Genet C Semin Med Genet 2014 Mar
Management of sickle cell disease in the community
British Medical Journal 10 March 2014
Refining the structure and content of clinical genomic reports
Dorschner MO, et al. Am J Med Genet C Semin Med Genet 2014 Mar
Utility of a genomic-based, personalized medicine test in patients presenting with symptoms suggesting coronary artery disease
Herman L, et al. J Am Board Fam Med 2014 Mar-2014 Apr;27(2):258-
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss
Alford R,et al. Genetics in Medicine (2014) Mar 20
Recommendations for human epidermal growth factor receptor 2 testing in breast cancer: American Society of Clinical Oncology/College of American Pathologists clinical practice guideline update.
Wolff AC, et al. J Clin Oncol. 2013 Nov 1;31(31):3997-4013.
Guideline update leaves out novel tests in breast cancer, Oncology Nurse Advisor, Mar 12
NCCN: Test All Colorectal Cancers for Lynch Syndrome, Medscape, Mar 14 [by free subscription only]
Acute care utilization for inherited metabolic diseases among children identified through newborn screening in New York state
Wang Y, et al. Genet Med 2014 Mar
After the Introduction into the National Newborn Screening Program: Who is receiving genetic counseling for hemoglobinopathies in the Netherlands?
Kaufmann J.O et al. Public Health Genomics, March 2014
Scope and efficiency of the newborn screening program in identifying hemoglobin S
Ivo ML, et al. Rev Bras Hematol Hemoter 2014;36(1):14-8
Newborn blood sample bill clears house hurdle, by Nathaniel Minor, MPR News, Mar 18
Adoption of a clinical pharmacogenomics implementation program during outpatient care-initial results of the University of Chicago "1,200 Patients Project"
O'Donnell PH, et al. Am J Med Genet C Semin Med Genet 2014 Mar
Clinical pharmacogenetics implementation: Approaches, successes, and challenges
Weitzel KW, et al. Am J Med Genet C Semin Med Genet 2014 Mar
Implementation of a pharmacogenomics service in a community pharmacy
Ferreri SP, et al. J Am Pharm Assoc (2003) 2014 Mar;54(2):172-80
A national perspective on prenatal testing for mitochondrial disease [PDF 264.35 KB]
Nesbitt V, et al. EJHG 2014, 1-5
DNA sequencing trumps standard screening tools.
Linda Koch Nature Reviews Genetics 18 March 2014
Implementation of an electronic genomic and family health history tool in primary prenatal care
Edelman EA, et al. Am J Med Genet C Semin Med Genet 2014 Mar
Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts
Connolly J, et al. Front. Genet., 18 March 2014
Integrated genomic and prospective clinical studies show the importance of modular pleiotropy for disease susceptibility, diagnosis and treatment
Mika Gustafsson et al. Genome Medicine, February, 2014
Pediatric data sharing in genomic research: Attitudes and preferences of parents
Burstein MD, et al. Pediatrics 2014 Mar
Power and predictive accuracy of polygenic risk scores.
Frank Dudbridge. PLOS Genetics March 21, 2014
Using next-generation RNA sequencing to identify imprinted genes
Wang X, et al. Heredity 2014 Mar 12
Cancer genes help HIV persist, complicating cure efforts.
Jon Cohen Science 14 March 2014: Vol. 343 no. 6176 p. 1188
Characteristics of genetics-related news content in black weekly newspapers.
Caburnay C.A, et al. Public Health Genomics, March 2014
Disentangling public participation in science and biomedicine [PDF 1.60 MB]
Christopher Kelty and Aaron Panofsky Genome Med 2014, 6:8
Fetal gene may protect brain from Alzheimer's, study finds, by Pam Belluck, The New York Times, Mar 19
On scaling up human genome interpretation published, by Ayanna Monteverdi, Mendelspod. Mar 18
How long can you store your NGS libraries: DNA adsorption demystified, Core Genomics, Mar 18
Revolutionising DNA analysis could help beat cancer, by Rachel Halliwell, Mar 18
China bans genetic testing, GEN, Mar 17
Obesity researchers have been looking at the wrong gene, by Ed Yong, National Geographic Blog, Mar 13
The triumph of genomic medicine is just beginning, by Vivek Wadhwa, Washington Post, Mar 13
Share alike- Research communities need to agree on standard etiquette for data-sharing, Nature News, Mar 12
CDC plans to map DNA of disease-causing viruses, Roll Call Policy, Mar 10
Will next disease detection system be faster, cheaper? Roll Call Policy, Mar 10
Did you know? The NIH Genetic Testing Registry has now more than 13000 tests on more than 4000 conditions.
The HuGENavigator database now has almost 90K publications including ~2750 genomewide association studies & > 5500 meta analyses- check it out
CDC authors are indicated in bold
Phylogenetic and epidemiologic evidence of multiyear incubation in human rabies
Boland TA, McGuone D, Jindal J, Rocha M, Cumming M, Rupprecht CE, Barbosa TF, de Novaes Oliveira R, Chu CJ, Cole AJ, Kotait I, Kuzmina NA, Yager PA, Kuzmin IV, Hedley-Whyte ET, Brown CM, Rosenthal ES. Ann Neurol. 2014 Jan;75(1):155-60.
Evolution and structural organization of the C proteins of paramyxovirinae
Lo MK, Sogaard TM, Karlin DG. PLoS One. 2014 ;9(2):e90003.
Genetic variation and recurrent parasitaemia in Peruvian Plasmodium vivax populations
McCollum AM, Soberon V, Salas CJ, Santolalla ML, Udhayakumar V, Escalante AA, Graf PC, Durand S, Cabezas C, Bacon DJ. Malar J. 2014 ;13(1):67.
Molecular Analysis of Chloroquine and Sulfadoxine-Pyrimethamine Resistance-Associated Alleles in Plasmodium falciparum Isolates from Nicaragua.
Sridaran S, Rodriguez B, Mercedes Soto A, Macedo De Oliveira A, Udhayakumar V. Am J Trop Med Hyg. 2014 Mar 10.
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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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