Genomics & Health Impact Update
Volume 33 Number 3 July 24-31, 2014About the Update
The fifth Beyond the Genome conference: Cancer genomics will be hosted by Genome Medicine and Genome Biology at Harvard Medical School, Boston, USA 8-10 October 2014.
Newborn Screening: Re-assessing Business as Usual
October 27-30, 2014 ~ Anaheim, CA
Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: A model for the diagnosis and treatment of rare diseases in a developing country
Nampoothiri S, et al. Am J Med Genet A 2014 Jul
Individualizing the use of medications in children: Making goldilocks happy
J S Leeder et al, Clinical Pharmacology & Therapeutics advance online publication 23 July 2014
Most genetic risk for autism resides with common variation.
Trent Gaugler et al. Nature Genetics, July 20, 2014
Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases
Moorthie S, et al. J Inherit Metab Dis 2014 Jul
Guidelines for genome-sequencing tests for kids, Louanne Hudgins, Stanford University, July 2014
Association between family history of malignant neoplasm with colorectal adenomatous polyp in 40s aged relative person
Lee SY, et al. Cancer Epidemiol 2014 Jul
Colonoscopy reduced distal colorectal cancer risk and excess cancer risk associated with family history.
Morois S, et al. Cancer Causes Control. 2014 Jul 22. [
Comparative evaluation of the new FDA approved THxIDTM-BRAF test with high resolution melting and sanger sequencing
Marchant J, et al. BMC Cancer 2014 Jul;14(1):519
Effect of routine assessment of specific psychosocial problems on personalized communication, counselors' awareness, and distress levels in cancer genetic counseling practice: A Randomized controlled trial
Eijzenga W, et al. J Clin Oncol 2014 Jul
Implementing a screening tool for identifying patients at risk for hereditary breast and ovarian cancer: A statewide initiative
Brannon Traxler L, et al. Ann Surg Oncol 2014 Jul
Increased risk of colorectal neoplasia among family members of patients with colorectal cancer: A population-based study in Utah.
Samadder NJ, et al. Gastroenterology. 2014 Jul 17. pii: S0016-5085(14)00902-0
Linking distant relatives with BRCA gene mutations: potential for cost savings
Senter L, et al. Clin Genet 2014 Jan;85(1):54-8
Nipple-sparing mastectomy in BRCA1/2 mutation carriers: An interim analysis and review of the literature
Yao K, et al. Ann Surg Oncol 2014 Jul
Personalized prostate cancer screening among men with high risk genetic predisposition- study protocol for a prospective cohort study
Margel D, et al. BMC Cancer 2014 Jul;14(1):528
Survey on knowledge, attitudes, and training needs of Italian residents on genetic tests for hereditary breast and colorectal cancer
Panic N, et al. Biomed Res Int 2014;2014:418416
The role of testing for BRCA1 and BRCA2 mutations in cancer prevention
Anne Marie McCarthy, et al. JAMA Internal Medicine
Diagnosis and treatment of familial hypercholesterolemia in Spain: Consensus document
Mata P, et al. Semergen 2014 Jul
Gene variation may modify cardiovascular benefit of Aspirin, Bioscience and Technology News, Jul 18
Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society
Marina Cuchel et al. Eur Heart J, July 22, 2014
A framework for analyzing the ethics of disclosing genetic research findings
Eckstein L, et al. J Law Med Ethics 2014 Jun;42(2):190-207
Genomic research with the newly dead: a crossroads for ethics and policy
Walker RL, et al. J Law Med Ethics 2014 Jun;42(2):220-31
Predictive genetic testing for adult-onset disorders in minors: A critical analysis of the arguments for and against the 2013 ACMG guidelines
Anderson JA, et al. Clin Genet 2014 Jul
Re-contacting participants for inclusion in the database of Genotypes and Phenotypes (dbGaP): Findings from three case control studies of lung cancer
Michele L Cote et al. Genome Medicine, July 23, 2014
Revealing the results of whole-genome sequencing and whole-exome sequencing in research and clinical investigations: some ethical issues
Hallowell N, et al. J Med Ethics 2014 Jul
EMQN best practice guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies
Joanne Traeger-Synodinos et al. Eur J Human Genetics, July 23, 2014
Improved molecular diagnosis by the detection of exonic deletions with target gene capture and deep sequencing.
Yanming Feng et al. Genetics in Medicine, July 17, 2014
Horizontal integration of OMIM across the medical school preclinical curriculum for early reinforcement of clinical genetics principles.
Adam C. Diehl et al. Genetics in Medicine, July 17, 2014
Multiplex genetic testing: reconsidering utility and informed consent in the era of next-generation sequencing
Bradbury AR, et al. Genet Med 2014 Jul
Perceptions of genetic testing and genomic medicine among drug users
Perlman DC, et al. Int J Drug Policy 2014 Jun
Pharmacogenomic knowledge gaps and educational resource needs among physicians in selected specialties
Johansen Taber KA & Dickinson BD Pharmgenomics Pers Med 2014;7:145-62
Variant detection sensitivity and biases in whole genome and exome sequencing
Alison M Meynert, et al. BMC Bioinformatics, July 19, 2014
Majority of Americans unaware of personalized medicine: Survey, Genome Web, Jul 22 [by free subscription only]
Can healthcare associated infections ever be eliminated? By Leila Lehushi, PHG Foundation, Jul 21
Follow-up of children with hemoglobinopathies diagnosed by the Brazilian Neonatal Screening Program in the State of Pernambuco
Soares AC, et al. Rev Bras Hematol Hemoter 2014 Jul-2014 Aug;36(4):250-5
Screening and prevention of neonatal glucose 6-phosphate dehydrogenase deficiency in Guangzhou, China
Jiang J, et al. Genet Mol Res 2014;13(2):4272-9
Arizona newborn-screening process improves, by Michelle Ye Hee Lee, The Arizona Republic, Jul 22
Initial experience with non-invasive prenatal testing of cell-free DNA for major chromosomal anomalies in a clinical setting
Comas C, et al. J Matern Fetal Neonatal Med 2014 Jul:1-23
Noninvasive prenatal testing for fetal aneuploidies in the first trimester of pregnancy
Song Y, et al. Ultrasound Obstet Gynecol 2014 Jul
Cancer-gene data sharing boosted
Hayden EC Nature 2014 Jun;510(7504):198
Enhancing the understanding of asthma.
Golnaz Vahedi et al. Nature Immunology, July 21, 2014
Cystic fibrosis might be 2 diseases: The sister disease affects the pancreas and other organs, while leaving the lungs alone, by Beth Skwarecki, Scientific American, Jul 21
Looking beyond our DNA. Horizons in bioscience, [PDF10.63 MB] The Federation of American Societies for Experimental Biology (FASEB) (2014)
23andMe Tries to woo the FDA, by Robert D. Hof, MIT Technology News, Jul 21
New York aims to be world leader in genomic medicine, by Phillipa Brice, PHG Foundation, Jul 21
NIH Research Matters: Gene changes identified in most common lung cancer, Jul 21
Are we paying enough attention to bioinformatics? It is a science and not a support service by biomickwatson, opiniomics blog, Jul 20
Common genes implicated in autism study, by Robert Preidt, HealthDay, Jul 20
The $300,000 drug, by Joe Nocera, New York Times, July 18
Genetic testing opens up new treatment options for local cancer patient, by Alison Starling, ABC News, Jul 18
NIH scientists identify gene linked to fatal inflammatory disease in children, NIH, Jul 17
The future of cancer genomics, GEN, Jul 17
OMICtools: an informative directory for multi-omic data analysis
Henry VJ, et al. Database (Oxford) 2014;2014
Online registry for mutations in hereditary amyloidosis including nomenclature recommendations
Rowczenio DM, et al. Hum Mutat 2014 Jul
CDC authors are indicated in bold
Molecular epidemiology of Pertussis Epidemic - Washington State, 2012.
Bowden KE, Williams MM, Cassiday PK, Milton A, Pawloski L, Harrison M, Martin SW, Meyer S, Qin X, DeBolt C, Tasslimi A, Syed N, Sorrell R, Tran M, Hiatt B, Tondella ML. J Clin Microbiol. 2014 Jul 16. pii: JCM.01189-14.
Cryptococcus gattii in North American Pacific Northwest: Whole-population genome analysis provides insights into species evolution and dispersal.
Engelthaler DM, Hicks ND, Gillece JD, ... Lockhart SR, Keim P, Meyer W. MBio. 2014 Jul 15;5(4). pii: e01464-14.
Genome sequences of nine bordetella holmesii strains isolated in the United States.
Harvill ET, Goodfield LL, Ivanov Y, Smallridge WE, Meyer JA, Cassiday PK, Tondella ML, Brinkac L, Sanka R, Kim M, Losada L. Genome Announc. 2014 Jun 19;2(3). pii: e00438-14.
Comparative genomic analysis and virulence differences in closely related Salmonella enterica serotype Heidelberg isolates from humans, retail meats, and animals
Hoffmann M, Zhao S, Pettengill J, Luo Y, Monday SR, Abbott J, Ayers SL, Cinar HN, Muruvanda T, Li C, Allard MW, Whichard J, Meng J, Brown EW, McDermott PF. Genome Biol Evol. 2014 May;6(5):1046-68.
Molecular determinants of influenza virus pathogenesis in mice.
Kamal RP1, Katz JM, York IA. Curr Top Microbiol Immunol. 2014 Jul 20.
Genetic diversity in Enterocytozoon bieneusi from dogs and cats in China: host specificity and public health implications
Karim MR, Dong H, Yu F, Jian F, Zhang L, Wang R, Zhang S, Rume FI, Ning C, Xiao L. J Clin Microbiol. 2014 Jul 2.
Severity of rhinovirus infection in hospitalized adults is unrelated to genotype
McCulloch DJ, Sears MH, Jacob JT, Lyon GM, Burd EM, Caliendo AM, Hill CE, Nix WA, Oberste MS, Kraft CS.
Am J Clin Pathol. 2014 Aug;142(2):165-72. Genome Biol. 2014 Jun 27;15(6):R76
Diarrhea in young children from low-income countries leads to large-scale alterations in intestinal microbiota composition.
Pop M, Walker AW, Paulson J, Lindsay B, Antonio M, Hossain M, Oundo J, Tamboura B, Mai V, Astrovskaya I, Bravo H, Rance R, Stares M, Levine MM, Panchalingam S, Kotloff K, Ikumapayi UN, Ebruke C, Adeyemi M, Ahmed D, Ahmed F, Alam M, Amin R, Siddiqui S, Ochieng JB, Ouma E, Juma J, Mailu E, Omore R, Morris J, Breiman RF, Saha D, Parkhill J, Nataro JP, Stine O.
Imputation and subset based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33.
Wang Z, Zhu B, Zhang M,… Butler MA,… Shi J, Chatterjee N, Amundadottir LT. Hum Mol Genet. 2014 Jul 15. pii: ddu363.
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