Genomics & Health Impact Update
Volume 31 Number 9 August 29 - September 5, 2013 About the Update
CDC information: Public health and health care integration resources
What is Lynch syndrome? NIH Genetics Home reference
CDC information: Genetic testing for hereditary colorectal cancer
Find state-based activities in Lynch syndrome implementation via the CDC clickable state map
Uptake of genetic testing by relatives of Lynch syndrome probands: A systematic review.
Sharaf RN, et al. Clin Gastroenterol Hepatol. 2013
Implementation of universal microsatellite instability and immunohistochemistry screening for diagnosing Lynch syndrome in a large academic medical center.
Heald B, et al. J Clin Oncol 2013 Apr 1;31(10):1336-40
International Familial Hypercholesterolemia Summit: From awareness to action, September 19, Annapolis, Maryland
Quality standard of care for familial hypercholesterolaemia in the UK, [PDF 125.48 KB] National Institute for Clinical Excellence, August, 2013
What is familial hypercholesterolemia? It is a common genetic condition associated with premature heart disease and stroke, FH Foundation information
CDC podcast: Cascade screening in familial hypercholesterolemia
Quality assessment of the genetic test for familial hypercholesterolemia in the Netherlands
Kindt I, et al. Cholesterol 2013;2013:531658
Recent advances in the treatment of homozygous familial hypercholesterolaemia.
Maraus A, et al. Current Opinion Lipidology 2013
CDC information: The high cost of excessive drinking to states
CDC information: Alcohol and pregnancy: Why take the risk?
Did you know? 1215 genes have been reported in relation to alcohol adverse health effects, including 65 genomewide association studies. To find out more, visit the HuGE Navigator
The genetic basis of alcoholism: multiple phenotypes, many genes, complex networks.
Morozova T, et al. Genome Biology (2012) 13:239
Find out about genetic conditions and tests related to alcohol use in the NIH Genetic Testing Registry
The Lancet features a series of papers on lung cancer. Topics include immunotherapy, screening for earlier diagnosis, patient management, and tumour biomarkers and genetics, August 2013
Genetics and biomarkers in personalisation of lung cancer treatment.
Rosell R, et al. Lancet, 2013 Aug 24
EGFR mutation tumor analysis has been recommended in personalization of treatment of non-small cell lung cancer by several evidence-based groups. Check out CDC tier 1 genomic applications table for more details
CDC paper: Utilization of epidermal growth factor receptor (EGFR) testing in the United States: Still far from optimal
Genetics in Medicine (2013)
National Cancer Institute: Lung Cancer: Prevention, Genetics, Causes
Did you know? More than 1000 genes have been reported in relation to lung cancer risk and outcomes, including 53 genomewide association studies. To find out more, visit the HuGE Navigator
The burgeoning molecular genetics of the Lyme disease spirochaete
Patricia A. Rosa et al. Nat Rev Microbiol 2012
Is there genetic predisposition to Lyme disease or its complications? The HuGE Navigator includes a total of only 8 studies on human genes and no genomewide association studies
Genomic medicine for improved prediction and primordial prevention of cardiovascular disease
Thanassoulis G, et al. Arterioscler Thromb Vasc Biol 2013 Sep;33(9):2049-50
Risk scores of common genetic variants for lipid levels influence atherosclerosis and incident coronary heart disease.
Isaacs A, et al. Arterioscler Thromb Vasc Biol. 2013 Sep;33(9):2233-9.
Genetic risk prediction and a 2-stage risk screening strategy for coronary heart disease.
Tikkanen E, et al. Arterioscler Thromb Vasc Biol. 2013 Sep;33(9):2261-6.
Multilocus genetic risk scores for coronary heart disease prediction.
Ganna A, et al. Arterioscler Thromb Vasc Biol. 2013 Sep;33(9):2267-2272
CDC information: What should you know about Muscular Dystrophy?
Check out information on Muscular Dystrophy and genetic testing from the NIH Genetic Testing Registry
American College of Epidemiology: Innovation in Epidemiology: Reframing Approaches to Research Questions, September 21-24 ~ Louisville, KY
The 5th Annual Personalized Medicine Conference, October 21-22 ~ Boston, MA
American Society of Human Genetics, October 22-26 ~ Boston, MA
Genetic counseling, cancer screening, breast cancer characteristics, and general health among a diverse population of BRCA genetic testers
Beattie MS, et al. J Health Care Poor Underserved 2013;24(3):1150-66
Lack of referral for genetic counseling and testing in BRCA1/2 and Lynch syndromes: a nationwide study based on 240,134 consultations and 134,652 genetic tests
Pujol P, et al. Breast Cancer Res Treat 2013 Aug
Oncogenic mutations in cervical cancer
Wright A, et al. Cancer 2013
Study finds genomic differences in types of cervical cancer, Medical Xpress, Aug 23
Prognostic implications of serum microRNA-21 in colorectal cancer
Menendez P, et al. J Surg Oncol 2013 Aug
The impact of the Oncotype Dx breast cancer assay in clinical practice: a systematic review and meta-analysis
Carlson JJ & Roth JA Breast Cancer Res Treat 2013 Aug
Validity of self-reported genetic counseling and genetic testing use among breast cancer survivors
Hamann HA, et al. J Cancer Surviv 2013 Aug
Groups experiment with digital tools for patient consent.
Bridget M. Kuehn, MSJ JAMA. 2013;310(7):678-680
Patenting the PKU test — federally funded research and intellectual property
Paul D, et al. N Engl J Med 2013; 369:792-794 2013 Aug 29
Added value of family history in counseling about risk of BRCA1/2 mutation in early-onset epithelial ovarian cancer.
Arts-de Jong M, et al. Int J Gynecol Cancer. 2013 Aug 21.
Family history and frontal lobe seizures predict long-term remission in newly diagnosed cryptogenic focal epilepsy
Gasparini S, et al. Epilepsy Res 2013 Aug
Family history of diabetes and pancreatic cancer as risk factors for pancreatic cancer: The PACIFIC Study
Austin MA, et al. Cancer Epidemiol Biomarkers Prev 2013 Aug
Family history of diabetes is associated with higher risk for prediabetes: a multicentre analysis from the German Center for Diabetes Research
Wagner R, et al. Diabetologia 2013 Aug
Awareness of genetic counseling and perceptions of its purpose: A survey of the Canadian public
Maio M, et al. J Genet Couns 2013 Aug
Dealing with the unexpected: consumer responses to direct-access BRCA mutation testing
Francke U, et al. Peer J 1:e8
Translational utility of next-generation sequencing.
Frank S. Ong et al. Genomics, September 2013
Clinical utility gene card for: Choroideremia
Moosajee M, et al. Eur J Hum Genet 2013 Aug
Newborns could soon be screened for rare “Pompe” enzyme deficiency disorder.
DF Maron, Scientific American, 2013 Aug 19
Efficacy of the genetic sonogram in a stepwise sequential protocol for Down syndrome screening
Shamshirsaz AA, et al. J Ultrasound Med 2013 Sep;32(9):1607-13
Association between a genetic variant related to glutamic acid metabolism and coronary heart disease in individuals with Type 2 diabetes
Qi L, et al. JAMA. 2013;310(8):821-828
Genetic variant associated with coronary heart disease in Type 2 diabetes, Science Daily, Aug 27
Contribution of genome-wide association studies to scientific research: a pragmatic approach to evaluate their impact
Ricigliano VA, et al. PLoS One 2013;8(8):e71198
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene
Sosnay P, et al. Nature Genetics 2013 Aug 25
105 additional genetic errors that cause cystic fibrosis pinpointed, Medical Xpress, Aug 25
Familial cardiological and targeted genetic evaluation: Low yield in sudden unexplained death and high yield in unexplained cardiac arrest syndromes
Kumar S, et al. Heart Rhythm 2013 Aug
Gene × physical activity interactions in obesity: Combined analysis of 111,421 individuals of European ancestry.
Shafqat Ahmad et al. PLoS Genet 9(7): e1003607
Genic intolerance to functional variation and the interpretation of personal genomes
Slavé Petrovski et al. PLoS Genet 9(8): e1003709
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
Patrick R Sosnay et al. Nature Genetics 2013 Aug 25
Sofosbuvir and ribavirin for hepatitis C genotype 1 in patients with unfavorable treatment characteristics: A randomized clinical trial
Osinusi A, et al. JAMA. 2013;310(8):804-811.
Building a genome analysis pipeline to predict disease risk and prevent disease.
Bromberg Y. J Mol Biol. 2013 Aug 5.
Microbiology: Wealth management in the gut
Fang S, et al. Nature 500,538–539 2013 Aug 29
Strengths and limitations of microarray-based phenotype prediction.
Tarca A, et al. Bioinformatics 2013 Aug 20
Pathogenic or not? Assessing the clinical relevance of copy number variants.
Hehir-Kwa JI et al. Clinical Genetics 2013 Aug 21
Revealing the incidentalome when targeting the tumor genome
Bombard Y, et al. JAMA. 2013;310(8):795-796
The benefits, limits of DNA sequencing, Boston Globe, Aug 26
Insights into genetic causes of childhood epilepsies. NIH Research Matters, Aug 26
Three small steps toward genomically sensible healthcare, Genomena, Aug 26
Talking toxicogenomics and global database, NIH, August
CNVinspector: a web-based tool for the interactive evaluation of copy number variations in single patients and in cohorts.
Knierim E, et al. J Med Genet. 2013 Aug;50(8):529-33.
CDC authors are indicated in bold
Unusual enterocytozoon bieneusi genotypes and cryptosporidium hominis subtypes in HIV-infected patients on highly active antiretroviral therapy
Akinbo FO, Okaka CE, Omoregie R, Adamu H, Xiao L. Am J Trop Med Hyg. 2013 Jul;89(1):157-61.
Evaluation of a dried blood and plasma collection device, sample tanker, for HIV type 1 drug resistance genotyping in patients receiving antiretroviral therapy
Diallo K, Lehotzky E, Zhang J, Zhou Z, de Rivera IL, Murillo WE, Nkengasong J, Sabatier J, Zhang G, Yang C. AIDS Res Hum Retroviruses. 2013 Aug 14.
Phenotypic, genomic, and transcriptional characterization of Streptococcus pneumoniae interacting with human pharyngeal cells
Kimaro Mlacha SZ, Romero-Steiner S, Hotopp JC, Kumar N, Ishmael N, Riley DR, Farooq U, Creasy TH, Tallon LJ, Liu X, Goldsmith CS, Sampson J, Carlone GM, Hollingshead SK, Scott JA, Tettelin H. BMC Genomics. 2013 ;14:383.
Borrelia burgdorferi bba66 gene inactivation results in attenuated mouse infection by tick transmission
Patton TG, Brandt KS, Nolder C, Clifton DR, Carroll JA, Gilmore RD. Infect Immun. 2013 Jul;81(7):2488-98.
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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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