Genomics & Health Impact Update:
Volume 31 Number 22 December 5-12, 2013About the Update
Contents of the week
- AIDS Control & Prevention
- Periodontal Disease, Family History & Genetics
- ADHD & Genetics
- Obesity, Genomics & Public Health
- CDC Winnable Battles & Genomics
- Implementation of Genomic Medicine
- Evidence-based Pharmacogenomics
- Epilepsy & Genetics
- Direct to Consumer Genetic Testing
Clinical consequences of SCID and the case for newborn screening
December 16 ~ Webinar
Ancestry and WGS: other privacy concerns?
December 10 ~ Webinar
Genetics in Your Practice: Genetic Testing in Primary Care
December 12 ~ Webinar
A rapid genetic counselling and testing in newly diagnosed breast cancer is associated with high rate of risk-reducing mastectomy in BRCA1/2-positive Italian women
Cortesi L, et al. Ann Oncol 2013 Nov
Breast cancer risk assessment in 8,824 women attending a family history evaluation and screening programme
Evans DG, et al. Fam Cancer 2013 Nov
Cancer risk communication, predictive testing and management in France, Germany, the Netherlands and the UK: general practitioners' and breast surgeons' current practice and preferred practice responsibilities
Nippert I, et al. J Community Genet 2013 Dec
Cost effectiveness of a 21-gene recurrence score assay versus canadian clinical practice in post-menopausal women with early-stage estrogen or progesterone-receptor-positive, axillary lymph-node positive breast cancer
Hannouf MB, et al. Pharmacoeconomics 2013 Nov
Gene-environment interactions in cancer epidemiology: a National Cancer Institute Think Tank report.
Hutter CM, et al. Genet Epidemiol. 2013 Nov;37(7):643-57.
Hereditary ovarian and breast cancer: what have we learned?
Lynch HT, et al. Ann Oncol. 2013 Nov;24 Suppl 8:viii83-viii95.
Increased rate of phenocopies in all age groups in BRCA1/BRCA2 mutation kindred, but increased prospective breast cancer risk is confined to BRCA2 mutation carriers.
Evans DG, et al. Cancer Epidemiol Biomarkers Prev. 2013 Nov 27.
Knowledge of and practice patterns for hereditary colorectal cancer syndromes in Korean surgical residents
Park J, et al. Ann Coloproctol 2013 Oct;29(5):186-91
Online prostate cancer screening decision aid for at-risk men: A randomized trial
Watts KJ, et al. Health Psychol 2013 Nov
Ovarian cancer familial relative risks by tumour subtypes and by known ovarian cancer genetic susceptibility variants
Jervis S, et al. J Med Genet 2013 Nov
Personalized cancer treatments suffer setback. Analysis suggests studies give conflicting answers about whether cancers respond to targeted drugs. By Erika Check Hayden, Nature News, Nov 27
Preliminary report of the relationship between experience of death of a relative, illness perception, and psychological outcome among BRCA carriers
Samama D, et al. Psychol Health Med 2013 Nov
Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy European Society of Human Genetics and European Society of Human Reproduction and Embryology
Harper JC, et al. Eur J Hum Genet 2013 Nov;21 Suppl 2:S1-S21
Family history of cancer, personal history of medical conditions and risk of oral cavity cancer in France: the ICARE study
Radoi L, et al. BMC Cancer 2013 Nov;13(1):560
Clinical implementation of genetic testing in medicine: A US regulatory science perspective
Lesko LJ & Schmidt SA Br J Clin Pharmacol 2013 Nov
Thrombophilia testing in women with venous thrombosis: The 4Ps approach
Mary Cushman, Clinical Chemistry Nov 2013
The advantage of using SNP array in clinical testing for hematological malignancies-a comparative study of three genetic testing methods
Xu X, et al. Cancer Genet 2013 Sep-2013 Oct;206(9-10):317-26
The promise of whole-exome sequencing in medical genetics.
Rabbani B, et al. J Hum Genet. 2013 Nov 7.
Technology assessment of genetic testing for risk of recurrent cancer, [PDF 6.49 MB] Agency for Healthcare Research Quality, Nov 2013
SLCO1B1 polymorphisms and statin-induced myopathy
Stewart A, PLoS Currents: Evidence on Genomic Tests 2013 Dec 4
Genetics and genomics for the prevention and treatment of cardiovascular disease: Update: A scientific statement from the American Heart Association
Ganesh SK, et al. Circulation 2013 Dec
Feasibility of newborn screening for Guanidinoacetate Methyltransferase (GAMT) deficiency
Pasquali M, et al. J Inherit Metab Dis 2013 Nov
Medium-chain acyl-CoA deficiency: Outlines from newborn screening, in silico predictions, and molecular studies
Catarzi S, et al. ScientificWorldJournal 2013;2013:625824
Newborn bloodspot results: predictive value of screen positive test for thalassaemia major
Streetly A, et al. J Med Screen 2013 Nov
Cost-effectiveness of using CYP2C19 genotype to guide selection of clopidogrel or ticagrelor in Australia
Sorich MJ, et al. Pharmacogenomics 2013 Dec;14(16):2013-21
Inconsistency in large pharmacogenomic studies.
Benjamin Haibe-Kains, Nature, Nov 27
Down syndrome screening in assisted conception twins: an iatrogenic medical challenge.
Ben-Ami I, et al. Obstet Gynecol Surv. 2013 Nov;68(11):764-73.
Noninvasive prenatal testing for whole fetal chromosomal aneuploidies: A multicenter prospective cohort trial in Taiwan
Shaw SW, et al. Fetal Diagn Ther 2013 Nov
Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management
Lee J & Hegele RA J Inherit Metab Dis 2013 Nov
Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: The Primary Immune Deficiency Treatment Consortium experience
Shearer WT, et al. J Allergy Clin Immunol 2013 Nov
Offspring of a parent with genetic disease: Childhood experiences and adult psychological characteristics
van der Meer L, et al. Health Psychol 2013 Nov
Parental discussion of G6PD deficiency and child health: implications for clinical practice
Guan Y, et al. Arch Dis Child 2013 Nov
Perceptions regarding genetic testing in populations at risk for nephropathy
Freedman BI, et al. Am J Nephrol 2013 Nov;38(6):453-7
Public trust in genomic risk assessment for type 2 diabetes mellitus
Mills R, et al. J Genet Couns 2013 Dec
Using a social marketing framework to evaluate recruitment of a prospective study of genetic counseling and testing for the deaf community
Kobayashi Y, et al. BMC Med Res Methodol 2013;13(1):145
Whole-exome sequencing of 2,000 Danish individuals and the role of rare coding variants in Type 2 diabetes.
Lohmuller K, et al. Am J Hum Genetics Nov 27
Genomes from metagenomics.
Itai Sharon and Jillian F. Banfield Science 29 Nov 2013
A piece of my mind. EBM’s six dangerous words.
R. Scott Braithwaite, JAMA, November 27
Epistasis and quantitative traits: using model organisms to study gene–gene interactions
Mackay T Nature Reviews Genetics (2013) Dec 3
Building the science for a population health movement – IOM discussion paper by Nancy Adler, Dec 3
Increase in breast cancer gene screening: the Angelina Jolie effect, by Deborah Kotz, Boston.com, Dec 3
NIH Director’s Blog: Network news- gene discoveries for autism, by Dr. Francis Collins, Dec 3
The biggest genome sequencing projects: the uber-list! By Nick Loman, Pathogens: Genes and Genomes, Dec 3
How DNA sequencing is changing medicine, Forbes, Dec 2
HGP@10: The Human Genome Project a decade later, by John Russell, Genetic Engineering and Biotechnology News, , Dec 1
Single-cell analysis: toward the clinic. Genome Medicine Collection (2013)
Why are more women having mastectomies, The Independent, Dec 1
Junking the idea of junk. A newly recognized class of genes really does matter, The Economist, Nov 30
Human Somatic Variation: It’s not just for cancer anymore.
Chun Li et al. Current Genetic Medicine Reports, December 2013
NCBI's database of genotypes and phenotypes: dbGaP
Tryka KA, et al. Nucleic Acids Res 2013 Dec
CDC authors are indicated in bold
Genetics and genomics for the prevention and treatment of cardiovascular disease: Update: A scientific statement from the American Heart Association.
Ganesh SK, Arnett DK, Assimes TL, Basson CT, Chakravarti A, Ellinor PT, Engler MB, Goldmuntz E, Herrington DM, Hershberger RE, Hong Y, Johnson JA, Kittner SJ, McDermott DA, Meschia JF, Mestroni L, O'Donnell CJ, Psaty BM, Vasan RS, Ruel M, Shen WK, Terzic A, Waldman SA; on behalf of the American Heart Association Council on Functional Genomics and Translational Biology, Council on Epidemiology and Prevention, Council on Basic Cardiovascular Sciences, Council on Cardiovascular Disease in the Young, Council on Cardiovascul. Circulation. 2013 Dec 2.
Gene-environment interactions in cancer epidemiology: a National Cancer Institute Think Tank report.
Hutter CM, Mechanic LE, Chatterjee N, Kraft P, Gillanders EM; NCI Gene-Environment Think Tank. Abnet CC, Amos C, Balshaw D, Bickeböller H, Bierut LJ, Boffetta P, Bondy M, Chanock S, Chatterjee N, Chen HS, Cox N, Divi R, Dupuis J, Ellison G, Fallin MD, Gauderman WJ, Gillanders E, Haiman C, Hutter C, Simonds NI, Iversen E, Khoury MJ, Kraft P, Le Marchand L, Lin D, McAllister K, Mechanic L, Peters U, Prentice R, Rebbeck T, Reedy J, Rothman N, Schully S, Seminara D, Shaughnessy D, Shete S, Spiegelman D, Stram DO, Thomas D, Wang M, Wang W, Weinberg C, Winn DM, Witte JS. Genet Epidemiol. 2013 Nov;37(7):643-57. doi: 10.1002/gepi.21756. Epub 2013 Oct 5.
Development of a loop-mediated isothermal amplification (LAMP) method to detect Histoplasma capsulatum DNA in clinical samples.
Scheel CM, Zhou Y, Theodoro RC, Abrams B, Balajee SA, Litvintseva AP. J Clin Microbiol. 2013 Nov 27.
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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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