Genomics & Health Impact Update
Volume 32 Number 10 March 12 - 20, 2014About the Update
Features of the Week
Third Symposium on Translational Genomics
March 20-21 ~ Bethesda, MD
ACMG Annual Clinical Genetics Meeting
March 25-29 ~ Nashville, TN
Public Health Genomics In Practice: State Strategies for Preventing Heritable Cancer and Cardiovascular Syndromes A webinar presented by the APHA Genomics Forum and Genetic Alliance
April 8, 12 pm ~ Webinar
1000 Genomes Project and Beyond
June 24-26 ~ Churchill College, Cambridge, UK
A clinical scoring system to identify patients with sebaceous neoplasms at risk for the Muir-Torre variant of Lynch syndrome
Roberts ME, et al. Genet Med 2014 Mar
Economic evaluation of using a genetic test to direct breast cancer chemoprevention in white women with a previous breast biopsy
Green LE, et al. Appl Health Econ Health Policy 2014 Mar
London hospital widens access to genetic tests for ovarian cancer
Arie S BMJ 2014;348:g1179
Replicative DNA polymerase mutations in cancer
Ellen Heitzer et al. Curr Opin Genet Dev. 2014 Feb 25;24C:107-113.
Yield of screening colonoscopy in first-degree relatives of patients with serrated polyposis syndrome.
Hazewinkel Y, et al. J Clin Gastroenterol. 2014 Mar 6
Addressing the ethical challenges in genetic testing and sequencing of children
Clayton EW, et al. Am J Bioeth 2014 Mar;14(3):3-9
Bioethicists urge more research as they consider recommendations for genomic testing of children, Genome Web, Mar 7 [by free subscription only]
Identifying genetic relatives without compromising privacy
He D,et al. Genome Res. 2014. Mar 10
Family history of cardiovascular disease and influence on statin therapy persistence
Citarella A, et al. Eur J Clin Pharmacol 2014 Mar
Family history of stroke among African Americans and its association with risk factors, knowledge, perceptions, and exercise
Aycock DM, et al. J Cardiovasc Nurs 2014 Mar
Pilot trial of an electronic family medical history in US faith-based communities
Newcomb P, et al. J Prim Care Community Health 2014 Feb
ASCO recommendations on family history a ‘good first step’, Dana Farber, Mar 8
Make time for family health history in 2014! Genes in Life
Clinical utility of multiplex ligation-dependent probe amplification technique in identification of aetiology of unexplained mental retardation: A study in 203 Indian patients
Boggula VR, et al. Indian J Med Res 2014 Jan;139(1):66-75
Genetic and ElectroNic medIcal records to predict oUtcomeS in heart failure patients (GENIUS-HF) - design and rationale
Gioli-Pereira L, et al. BMC Cardiovasc Disord 2014 Mar;14(1):32
Genetic testing in the management of relatives of patients with hypertrophic cardiomyopathy
Tomasov P, et al. Folia Biol (Praha) 2014;60(1):28-34
Microarray glycoprofiling of CA125 improves differential diagnosis of ovarian cancer
Chen K,et al. J. Proteome Res., 2013, 12 (3), pp 1408–1418
Impact of delivery models on understanding genomic risk for type 2 diabetes
Haga S.B et al. Public Health Genomics, February 28, 2014
The effect of cardiac genetic testing on psychological well-being and illness perceptions
Hickey KT, et al. Heart Lung 2014 Mar-2014 Apr;43(2):127-
The genome clinic: A multidisciplinary approach to assessing the opportunities and challenges of integrating genomic analysis into clinical care
Bowdin S, et al. Hum Mutat 2014 Mar
Sickle cell trait-neglected opportunities in the era of genomic medicine.
Taylor C, et al. JAMA. 2014 Mar 6.
IGNITE (Implementing Genomics into Practice) Network: Three genomic medicine demonstration projects funded by NHGRI
What’s ahead for BRCA genetic testing and counseling? Lauren M. Green, Onclive, Mar 8
[Diagnosis and management of hereditary colorectal cancer according to the JSCCR Guidelines 2012 for the Clinical Practice of Hereditary Colorectal Cancer]
Ishida H, et al. Nihon Rinsho 2014 Jan;72(1):143-9
An analysis and decision tool to measure cost benefit of newborn screening for severe combined immunodeficiency (SCID) and related T-cell lymphopenia
Modell V, et al. Immunol Res 2014 Mar
Public views on participating in newborn screening using genome sequencing.
Bombard Y, et al. Eur J Hum Genet. 2014 Feb 19.
Survey says parents less keen to participate in genome sequencing-based newborn screening, Genome Web, Mar 5 [by free subscription only]
Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for ivacaftor therapy in the context of CFTR genotype
Clancy JP, et al. Clin Pharmacol Ther 2014 Mar
Positive perception of pharmacogenetic testing for psychotropic medications
Lanktree MB, et al. Hum Psychopharmacol 2014 Mar
Recommendations for HLA-B*15:02 and HLA-A*31:01 genetic testing to reduce the risk of carbamazepine-induced hypersensitivity reactions
Amstutz U, et al. Epilepsia. 2014 Mar 5.
Group issues recommendations for genetic susceptibility testing for carbamazepine skin reactions, Skin & Allergy News, Mar 7
Attitudes towards non-invasive prenatal testing for aneuploidy among US adults of reproductive age
Allyse M, et al. J Perinatol 2014 Mar
DNA sequencing versus standard prenatal aneuploidy screening
Bianchi DW, et al. N Engl J Med 2014 Feb;370(9):799-808
Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.
Langfelder-Schwind E, et al. J Genet Couns. 2014 Feb;23(1):5-15.
Non-invasive prenatal testing for chromosomal abnormality using maternal plasma DNA, [PDF 171.02 KB] Scientific Impact Paper No.15, Royal College of Obstetricians and Gynaecologists
SMFM Physicians Recommend NIPT for High-Risk Patients, Society for Maternal-Fetal Medicine, Mar 5
Fetal DNA testing for low-risk women gets mixed reviews, Medscape, Mar 8 [by free subscription only]
Gene expression analysis in RA: towards personalized medicine
Burska A, et al. Pharmacogenomics Journal 2014 Mar 4
Gene editing of CCR5 in autologous CD4 T cells of persons infected with HIV
Tebas P, et al. N Engl J Med. 2014 Mar 6;370(10):901-10.
Promising results from HIV gene editing therapy, PHG Foundation, Mar 10
The social (media) side to rheumatology
Francis Berenbaum Nature Reviews Rheumatology, March 4, 2014
Big data in biomedicine: Videos from the Stanford University 2013 Conference- Impact of genomics on epidemiology
Patients who question their doctors are changing the face of medicine – and physicians are embracing the shift, by Dr. James Aw, National Post, Mar 11
Trends in genomics technology, by Barrett Bready and John Thompson, R&D Magazine, Mar 10
Scripps shares genetic sequences of healthy elderly to boost Alzheimer's and cancer research, by Nick Paul Taylor, FierceBiotechIT, Mar 10
Why so many huge sequencing projects? By Art Wuster, Seqonomics, Mar 10
The fat drug- antibiotics and the microbiome, by PAGAN KENNEDY, New York Times, Mar 8
Practical playbook merges public health/primary care using health IT, by Brett Coughlin, Health Buzz, Mar 6
A sustainable financial model for community health systems
James Hester et al. IOM Discussion paper 2014 Mar 6
Genetic modification of cells proves generally safe as HIV treatment strategy, National Institute Allergy and Infectious Diseases, Mar 5
The clinical sequencer, by Theral Timpson, Mendelspod, Mar 3
The $1000 genome - a computational perspective, by Glenn Lockwood, Jan 15
Did you know? The NIH Genetic Testing Registry has now more than 13000 tests on more than 4000 conditions. Check it out
The HuGENavigator database now has almost 90K publications including ~2750 genomewide association studies & > 5500 meta analyses- check it out
The GAPP Finder of the GAPPKb database now has 547 genomic tests that have been suggested for use in clinical research and practice.
CDC authors are indicated in bold
Carbapenem-Resistant Klebsiella pneumoniae Producing New Delhi Metallo-β-Lactamase at an Acute Care Hospital, Colorado, 2012.
Epson EE, Pisney LM, Wendt JM, Maccannell DR, Janelle SJ, Kitchel B, Rasheed JK, Limbago BM, Gould CV, Kallen AJ, Barron MA, Bamberg WM. Infect Control Hosp Epidemiol. 2014 Apr;35(4):390-7.
The association between demographic and behavioral characteristics and sunburn among U.S. adults - National Health Interview Survey, 2010.
Holman DM, Berkowitz Z, Guy GP Jr, Hartman AM, Perna FM. Prev Med. 2014 Feb 28. pii: S0091-7435(14)00083-8.
Cryptosporidium parvum IId family: clonal population and dispersal from Western Asia to other geographical regions
Wang R, Zhang L, Axen C, Bjorkman C, Jian F, Amer S, Liu A, Feng Y, Li G, Lv C, Zhao Z, Qi M, Dong H, Wang H, Sun Y, Ning C, Xiao L. Sci Rep. 2014 ;4:4208.
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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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