Genomics & Health Impact Update
Volume 32 Number 22 June 5-11, 2014About the Update
Lynch Syndrome International Conference
June 21, 2014 ~ Orlando, FL
2nd International Conference on Genomics & Pharmacogenomics
September 8-10 ~ Raleigh, NC
CDC awards $19.5 million to Prevention Research Centers nationwide. Awardees to conduct innovative public health prevention research to reduce health disparities (May 30, 2014)
Clinical utility gene card for: Angelman syndrome
Buiting K, et al. European Journal of Human Genetics 2014 Jun 4
Genome sequencing identifies major causes of severe intellectual disability
Gilissen C, et al. Nature 2014 Jun 4
Nutrition management guideline for maple syrup urine disease: An evidence- and consensus-based approach
Frazier DM, et al. Mol Genet Metab 2014 May
Sharp rise in rare chromosomal disorders diagnosis rate, PHG Foundation, Jun 2
Distant invasive breast cancer recurrence risk in human epidermal growth factor receptor 2-positive T1a and T1b node-negative localized breast cancer diagnosed from 2000 to 2006: A cohort from an integrated health care delivery system.
Fehrenbacher L, et al. J Clin Oncol. 2014 Jun 2. pii: JCO.2013.52.0858.
Study finds risk of recurrence low in smallest HER2+ breast cancer tumors, Medical News Today, Jun 3
Exploring psychological responses to genetic testing for Lynch Syndrome within the family context
Eliezer D, et al. Psychooncology 2014 May
Improving referral for genetic risk assessment in ovarian cancer using an electronic medical record system
Petzel SV, et al. Int J Gynecol Cancer 2014 May
Inflammation-related genetic variations and survival in patients with advanced non–small cell lung cancer receiving first-line chemotherapy
Pu X, et al. Clinical Pharmacology & Therapeutics 2014 Jun 4
Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancers
Park D, et al. Cancer Discovery 2014 May 2
Four new genes confirmed to increase familial breast cancer risk, EurekAlert, Jun 4
Recent BRCAPRO upgrades significantly improve calibration
Mazzola E, et al. Cancer Epidemiol Biomarkers Prev 2014 Jun
U.S. Food and Drug Administration approval summary: Erlotinib for the first-line treatment of metastatic non-small cell lung cancer with epidermal growth factor receptor exon 19 deletions or exon 21 (L858R) substitution mutations
Khozin S, et al. Oncologist 2014 May
Lynch syndrome 101 years- review- meeting summary, [PDF 69.78 KB] by Noralane Lindor, ASCO 2014 meeting, June 2
Association of CHRNA5-A3-B4 SNP rs2036527 with smoking cessation therapy response in African-American smokers
Zhu A, et al. Clinical Pharmacology & Therapeutics 2014 Jun 4
Gene expression profiles associated with acute myocardial infarction and risk of cardiovascular death
Jinhee Kim et al. Genome Medicine, May 30, 2014
Personalizing care in coronary heart disease, by Kam Marwaha, Biomed Central blog, May 30
Genetic test to stop smoking (GeTSS) trial protocol: randomised controlled trial of a genetic test (Respiragene) and Auckland formula to assess lung cancer risk
Nichols JA, et al. BMC Pulm Med 2014 May;14(1):77
Help or hindrance: Young people's experiences of predictive testing for Huntington's disease
Forrest Keenan K, et al. Clin Genet 2014 May
Homozygous familial hypercholesterolemia: the c.1055 G>A mutation in the LDLR gene and clinical heterogeneity
María Teresa Magaña Torre et al. J Clinical Lipidology, May 2014
Alzheimer's disease: The forgetting gene, by Laura Spinney, Nature News, Jun 4
Personal utility in genomic testing: is there such a thing?
Bunnik EM, et al. J Med Ethics 2014 May
Regulatory challenges posed by synthetic biology, by Philippa Brice PHG Foundation, Jun 1
Family history and survival of patients with gastric cancer: a meta-analysis
Oh MG, et al. Asian Pac J Cancer Prev 2014;15(8):3465-70
Family history of colorectal cancer is not associated with colorectal cancer survival regardless of microsatellite instability status
Phipps AI, et al. Cancer Epidemiol Biomarkers Prev 2014 Jun
Are public health professionals prepared for public health genomics? A cross-sectional survey in Italy
Marzuillo C, et al. BMC Health Serv Res 2014 May;14(1):239
Attitudes of physicians and patients towards disclosure of genetic information to spouse and first-degree relatives: a case study from Turkey
Akpinar A & Ersoy N BMC Med Ethics 2014 May;15(1):39
Genomics-enabled drug repositioning and repurposing: insights from an IOM roundtable activity
Power A, et al. JAMA 2014 May;311(20):2063-4
Managing expectational language: Translational genetic professionals consider the clinical potential of next-generation sequencing technologies
Koay PP & Sharp RR New Genet Soc 2014 Jun;33(2):126-48
The usefulness of whole-exome sequencing in routine clinical practice
Iglesias A, et al. Genetics in Medicine 2014 Jun 5
Challenges for clinical implementation of genomic medicine, Youtube Video, by Gholson Lyon, New York Genome Institute, May 31, 2014
Actionable diagnosis of neuroleptospirosis by next-generation sequencing
Wilson M, et al. New England J of Med. 2014 Jun 4
In a first, test of DNA finds root of illness, by Carl Zimmer, New York Times, Jun 4
Stratified infection medicine: a call to arms
Russell C, et al. Lancet Infectious Diseases Vol 14 Iss 1:8-9 2014 Jan 1
Role of TNF block genetic variants in HIV-associated sensory neuropathy in black Southern Africans
Wadley A, et al. European Journal of Human Genetics 2014 Jun 4
Can't get that microbiome out of my head, by KK Morgan, Genome Mag, Jun 3
Postanalytical tools improve performance of newborn screening by tandem mass spectrometry
Hall PL, et al. Genet Med 2014 May
Reflections on 50 years of newborn screening
Boyle CA, et al. Pediatrics. 2014 May 19.
China moves to expand newborn screening, PHG Foundation, Jun 5
The pros and cons of prenatal genetic testing, Live Science, May 29
Epigenetic clues into the molecular basis of osteoarthritis.
Jenny Buckland Nature Reviews Rheumatology, June 3, 2014
Clues from the resilient
Friend S Science 344(6187) 970-972;2014 May 30
"Genetic heroes" may be key to treating debilitating diseases, Scientific American, May 30
Learning from big health care data
Schneeweiss S. N Engl J Med 2014; 370:2161-2163
Translational genomics: A network of the human metabolome
Isabel Lokody Nature Reviews Genetics, 28 May 2014
Translational genomics: Clues from the resilient
Stephen H. Friend, et al. Science, May 30, 2014
Translational research is a key to nongeneticist physicians' genomics education
Feero WG, et al. Genet Med 2014 May
Cancer epigenomics and the new holy grail – turning cancer into chronic disease, by Romina Andrew BIoMEd Central Blog, Jun 4
Genetic genealogy: Looking for the faces of our ancestors in DNA, BBC News, June 3
Lessons from the woman who discovered the BRCA cancer gene, by Alison Park, Time, Jun 2
The coming era of personal genomics, by Meredith Salisbury, Forbes, Jun 2
George Church: The future without limit, by Peter Miller, National Geographic, June 2014
Genetic heroes may be key to treating debilitating diseases, by Geoffrey Giller, Scientific American, May 30
A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data
Hu H, et al. Nat Biotechnol. 2014 May 18.
New software tool identifies genetic mutations that influence disease risk, MD Anderson Center, May 30
Nanoprobe-based genetic testing
Zu Y, et al. Nano Today 2014 May 21
Genetic testing in minutes with gold nanoprobes, Nano Werk, May 29
Powerful new tool combs family genomes to identify disease-causing variations, University of Utah, May 29
CDC authors are indicated in bold
Reflections on 50 years of newborn screening
Boyle CA, Bocchini JA, Kelly J. Pediatrics. 2014 May 19.
Molecular Detection of Adenoviruses, Rhabdoviruses, and Paramyxoviruses in Bats from Kenya.
Conrardy C, Tao Y, Kuzmin IV, Niezgoda M, Agwanda B, Breiman RF, Anderson LJ, Rupprecht CE, Tong S. Am J Trop Med Hyg. 2014 May 27. pii: 13-0664.
Draft Genome Sequence of Bacillus cereus Strain BcFL2013, a Clinical Isolate Similar to G9241.
Gee JE, Marston CK, Sammons SA, Burroughs MA, Hoffmaster AR. Genome Announc. 2014 May 29;2(3). pii: e00469-14.
Genotypes of Enterocytozoon bieneusi in livestock in China: high prevalence and zoonotic potential
Li W, Li Y, Li W, Yang J, Song M, Diao R, Jia H, Lu Y, Zheng J, Zhang X, Xiao L. PLoS One. 2014 May 20;9(5):e97623.
Utilizing population controls in rare-variant case-parent association tests
Jiang Y, Satten GA, Han Y, Epstein MP, Heinzen EL, Goldstein DB, Allen AS. Am J Hum Genet. 2014 May 14.
Evolutionary pathway to increased virulence and epidemic group A Streptococcus disease derived from 3,615 genome sequences
Nasser W, Beres SB, Olsen RJ, Dean MA, Rice KA, Long SW, Kristinsson KG, Gottfredsson M, Vuopio J, Raisanen K, Caugant DA, Steinbakk M, Low DE, McGeer A, Darenberg J, Henriques-Normark B, Van Beneden CA, Hoffmann S, Musser JM. Proc Natl Acad Sci U S A. 2014 Apr 29;111(17):E1768-76.
Population-based analysis of invasive nontypeable pneumococci reveals that most have defective capsule synthesis genes
Park IH, Geno KA, Sherwood LK, Nahm MH, Beall B. PLoS One. 2014 May 15;9(5):e97825.
Field Study of Dried Blood Spot Specimens for HIV-1 Drug Resistance Genotyping.
Parry CM, Parkin N, Diallo K, Mwebaza S, Batamwita R, DeVos J, Bbosa N, Lyagoba F, Magambo B, Jordan MR, Downing R, Zhang G, Kaleebu P, Yang C, Bertagnolio S. J Clin Microbiol. 2014 May 28. pii: JCM.00544-14.
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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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