Genomics & Health Impact Update
Volume 32 Number 25 June 26- July 2, 2014About the Update
Improving Genetics Education in Graduate and Continuing Health Professional Education: A Workshop
August 18 ~ Washington, DC
Why we can't wait: 2014 Conference to eliminate health disparities in genomic medicine- the role of policy
September 4-5 ~ Washington, DC
An exome sequencing strategy to diagnose lethal autosomal recessive disorders
Sian Ellard et al. Eur J Human Genetics, 2014 Jun 25
New testing guidelines for hearing loss support next-generation sequencing: Testing method may help determine genetic causes of hearing loss among patients whose phenotypes are not easily distinguished clinically
Levenson D Am J Med Genet A 2014 Jul;164(7):vii-viii
Access to personalized medicine: factors influencing the use and value of gene expression profiling in breast cancer treatment
Bombard Y, et al. Curr Oncol 2014 Jun;21(3):e426-33
Assessing the clinical utility of cancer genomic and proteomic data across tumor types
Yuan Yuan et al. Nature Biotechnology, June 22, 2014
Breast cancer, BRCA mutations, and attitudes regarding pregnancy and preimplantation genetic diagnosis
Woodson AH, et al. Oncologist 2014 Jun
Characteristics associated with genetic counseling referral and BRCA1/2 testing among women in a large integrated health system
Bellcross CA, et al. Genet Med 2014 Jun
Clinical tumor sequencing: An incidental casualty of the American College of Medical Genetics and Genomics recommendations for reporting of incidental findings
Parsons DW, et al. J Clin Oncol 2014 Jun
Delivering precision medicine in oncology today and in future―the promise and challenges of personalised cancer medicine: a position paper by the European Society for Medical Oncology (ESMO).
F Ciardiello et al. Annals of Oncology, June 20, 2014
Improved overall survival after contralateral risk-reducing mastectomy in BRCA1/2 mutation carriers with a history of unilateral breast cancer: A prospective analysis
Am Heemskerk-Gerritsen B, et al. Int J Cancer 2014 Jun
Knowledge of Lynch syndrome among obstetrician/gynecologists and general surgeons
Frey MK, et al. Int J Gynaecol Obstet 2014 Apr
Cascade screening based on genetic testing is cost-effective: Evidence for the implementation of models of care for familial hypercholesterolaemia.
Zanfina Ademi et al. J Clinical Lipidology, June 2014
Circulating cell-free DNA enables noninvasive diagnosis of heart transplant rejection.
Iwijn De Vlaminck et al. Sci Trans Med, June 18, 2014
Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study
Norsworthy PJ, et al. BMC Med Genet 2014 Jun;15(1):70
ELSI practices in genomic research in East Asia: implications for research collaboration and public participation
Yoshizawa G, et al. Genome Med 2014;6(5):39
Genetic research participation in a young adult community sample
Storr CL, et al. J Community Genet 2014 Jun
Genomic medicine and incidental findings: balancing actionability and patient autonomy.
McCormick JB, et al. Mayo Clin Proc. 2014 Jun;89(6):718-21.
Health beat: Delicate questions in genetic testing, Star Tribune, Jun 21
Incorporating genetic testing ancestry results into medical decisions
Farrell RM, et al. Virtual Mentor 2014;16(6):428-33
Redefining genomic privacy: Trust and empowerment [PDF 301.36 KB]
Arvind Narayana, et al. June 25, 2014
The translational potential of research on the ethical, legal, and social implications of genomics
Burke W, et al. Genet Med 2014 Jun
Knowledge brokering and policy making: bypassing the catch-22 in genomics, Hilary Burton, PHG Foundation, Jun 24
23andMe engages with the FDA on health-related genetic tests, PHG Foundation, Jun 23
Genetics startup 23andMe takes step on path to FDA approval, Medscape, Jun 23 [by free subscription only]
Design and anticipated outcomes of the eMERGE-PGx project: A multi-center pilot for pre-emptive pharmacogenomics in electronic health record systems
Rasmussen-Torvik LJ, et al. Clin Pharmacol Ther 2014 Jun
Diagnostic accuracy of HLA-B*57:01 screening for the prediction of abacavir hypersensitivity and clinical utility of the test: a meta-analytic review
Cargnin S, et al. Pharmacogenomics 2014 May;15(7):963-76
Genotype-guided vs clinical dosing of warfarin and its analogues: Meta-analysis of randomized clinical trials
Stergiopoulos K & Brown DL JAMA Intern Med 2014 Jun
Cell-free fetal DNA — a trigger for parturition
Mark Phillippe, N Engl J Med 2014; 370:2534-2536
Communicating about family health history: heredity, culture, iatrogenesis and the public good
Parrott R J Epidemiol Community Health 2014 Jun
Translating research for health policy: Researchers’ perceptions and use of social media.
David Grande et al. Health Affairs, June 2014
The role of genomic imprinting in biology and disease: an expanding view.
Jo Peters, Nature Reviews Genetics, June 24, 2014.
The Case for Personalized Medicine - 4th Edition, Personalized Medicine Coalition 2014
Imperial College London launches new arm of Parkinson's study; eyes two mutations, Genome Web, Jun 24 [by free subscription only]
French consortium launch cancer exome interpretation project, PHG Foundation, Jun 23
Peering into a person's genome opens a Pandora's box, The Sydney Morning Herald, Jun 22
Australian funding underpins genomic and personalised medicine, PHG Foundation, Jun 17
How a geneticist sequenced his unborn son’s genome, using do-it-yourself biology tools, MIT Technology Review, Jun 13
The Human Heredity and Health in Africa (H3Africa) Initiative aims to facilitate a contemporary research approach to the study of genomics and environmental determinants of common diseases with the goal of improving the health of African populations
Enabling the genomic revolution in Africa. The H3Africa Consortium, Science, June 2014
The Allele Frequency Calculator #1000GB, 1000 Genomes
Literome: Pubmed-scale genomic knowledge base in the cloud.
Poon H, et al. Bioinformatics. 2014 Jun 17
Ran X, et al. Database (Oxford) 2014;2014
CDC authors are indicated in bold
Characteristics associated with genetic counseling referral and BRCA1/2 testing among women in a large integrated health system.
Bellcross CA, Peipins LA, McCarty FA, Rodriguez JL, Hawkins NA, Hensley Alford S, Leadbetter S. Genet Med. 2014 Jun 19.
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.
Population structure of Listeria monocytogenes serotype 4b isolates from sporadic human listeriosis in the United States, 2003-2008
Lee S, Ward TJ, Graves LM, Tarr CL, Siletzky RM, Kathariou S.
Appl Environ Microbiol. 2014 Apr 4.
Whole genome analysis of Exserohilum rostratum from the outbreak of fungal meningitis and other infections.
Litvintseva AP, Hurst S, Gade L, Frace MA, Hilsabeck R, Schupp JM, Gillece JD, Roe C, Smith D, Keim P, Lockhart SR, Changayil S, Weil MR, MacCannell DR, Brandt ME, Engelthaler DM. J Clin Microbiol. 2014 Jun 20. pii: JCM.00936-14.
Evidence synthesis and guideline development in genomic medicine: current status and future prospects.
Schully SD, Lam TK, Dotson WD, Chang CQ, Aronson N, Birkeland ML, Brewster SJ, Boccia S, Buchanan AH, Calonge N, Calzone K, Djulbegovic B, Goddard KA, Klein RD, Klein TE, Lau J, Long R, Lyman GH, Morgan RL, Palmer CG, Relling MV, Rubinstein WS, Swen JJ, Terry SF, Williams MS, Khoury MJ. Genet Med. 2014 Jun 19.
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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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