Genomics & Health Impact Update
Volume 31 Number 10 September 5 -12 , 2013 About the Update
Implementation of validated genomic applications can benefit from public health surveillance & registries-CDC Blog post: Feeling the genomic pulse of the United States (2011)
The Randomized Registry Trial — The next disruptive technology in clinical research?
Lauer M, et al. New Engl J Med, Sept 1
CDC information: How cancer registries work
Reg4all: Finding ways to improve health with the registry for all conditions
Genomic analysis identifies targets of convergent positive selection in drug-resistant Mycobacterium tuberculosis.
Maha R Farhat, et al. Nat Genetics 2013 Sep 1
Genome sequencing of 161 Mycobacterium tuberculosis isolates from China identifies genes and intergenic regions associated with drug resistance.
Hongtai Zhang, et al. Nat Genetics, August 2013
Decoding drug-resistant TB- Researchers characterize drug-resistant tuberculosis by analyzing the genomes of more than 500 Mycobacterium tuberculosis isolates from around the world, by Tracy Vence, The Scientist, Sep 1
TB has human, not animal, origins, Julie Gould, BBC News, Sep 2
Did you know? 291 genes have been reported with risk of Tuberculosis and outcomes, including 9 genomewide association studies. To find out more, visit the HuGE Navigator
Test your knowledge on sickle cell disease: CDC information
What is Lynch syndrome? NIH Genetics Home reference
CDC information: Genetic testing for hereditary colorectal cancer
Uptake of genetic testing by relatives of Lynch syndrome probands: A systematic review.
Sharaf RN, et al. Clin Gastroenterol Hepatol. 2013
CDC information: September is National Cholesterol Education Month
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
CDC information on preventable deaths from heart disease & stroke- Using electronic health records to identify and support patients, refer patients to community resources and track progress on cholesterol management
Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease. Consensus Statement of the European Atherosclerosis Society
Eur Heart J, Aug 15
Tall order: Losartan looks promising in Marfan syndrome, Heart Wire, Sep 2
What is Marfan syndrome? A genetic disorder affecting many parts of the connective tissue in the body- from the NIH Genetics Home Reference
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
The Genomics of Common Diseases 2013
September 7-10, 2013- Keble College, Oxford, UK
New England Healthcare Institute (NEHI) Innovation Conference: Patient Engagement 360
October 3rd, 2013 - Boston, MA
Precision Medicine: Personal Genomes & Pharmacogenomics
November 13-16, 2013 - Cold Spring Harbor, NY
NIDA to fund genetic, molecular studies of chronic drug abuse, Genome Web, Aug 29 [by free subscription only]
Genomic Grade Index (GGI): Feasibility in routine practice and impact on treatment decisions in early breast cancer
Metzger-Filho O, et al. PLoS One 2013;8(8):e66848
Germline genetic variants in ABCB1, ABCC1 and ALDH1A1, and risk of hematological and gastrointestinal toxicities in a SWOG Phase III trial S0221 for breast cancer
Yao S, et al. Pharmacogenomics J 2013 Sep
Prospective cost-effectiveness analysis of genomic profiling in breast cancer
Retel VP, et al. Eur J Cancer 2013 Aug
Ten-year survival in patients with BRCA1-negative and BRCA1-positive breast cancer.
Tomasz Huzarski et al. J Clin Oncol 2013
Ultrasensitive detection of unknown colon cancer-initiating mutations using the example of the adenomatous polyposis coli gene
Gerecke C, et al. Cancer Prev Res Sep 2013 6:898-907
New method for early detection of colon cancer, EurekAlert, Sep 4
National Ovarian Cancer Awareness Month 2013, HHS.gov, Aug 30
Prospects for ovarian cancer screening, by Dr Philippa Brice, PHG Foundation, Aug 30
Implementing risk-stratified screening for common cancers: a review of potential ethical, legal and social issues
Hall AE, et al. J Public Health (Oxf) 2013 Aug
Life insurance and genetic test results: a mutation carrier's fight to achieve full cover
Louise A Keogh, et al. Medical Journal of Australia 2013; 199 (5): 363
Case study reveals genetic discrimination in life insurance, Science Daily, Sep 3
Informed consent goes digital, by Ann Neuer, Clin Informatics News, Aug 29
Screening immediate family members for carrier identification and counseling: a cost-effective and practical approach
Ansari SH, et al. J Pak Med Assoc 2012 Dec;62(12):1314-7
Cost-effectiveness analysis of triple therapy with protease inhibitors in treatment-naive hepatitis C patients
Blazquez-Perez A, et al. Pharmacoeconomics 2013 Sep
The Italian National External quality assessment program in molecular genetic testing: results of the VII round (2010-2011)
Censi F, et al. Biomed Res Int 2013;2013:739010
Clinical utility gene card for: progressive familial intrahepatic cholestasis type 1
Gonzales E, et al. Eur J Hum Genet 2013 Aug
Clinical utility gene card for: progressive familial intrahepatic cholestasis type 2
Gonzales E, et al. Eur J Hum Genet 2013 Aug
Clinical utility gene card for: von Hippel-Lindau (VHL)
Decker J, et al. Eur J Hum Genet 2013 Aug
Development of omics-based clinical tests for prognosis and therapy selection: The challenge of achieving statistical robustness and clinical utility
McShane LM & Polley MY Clin Trials 2013 Sep
Clinical pharmacogenetics implementation consortium guidelines for dihydropyrimidine dehydrogenase genotype and fluoropyrimidine dosing
Caudle KE, et al. Clin Pharmacol Ther 2013 Aug
New guidelines on genetic testing and screening in children
Hamind R AAP Grand Rounds Vol. 30 No. 3 pp. 36 2013 Sep
Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening
Couce ML, et al. Mol Genet Metab 2013 Aug
From newborn screening to population health research: implementation of the Michigan BioTrust for health
Langbo C, et al. Public Health Rep 2013 Sep;128(5):377-84
Boston hospitals to launch landmark genome study of newborns, Boston Herald, Sep 4
US funds pilots of genomic sequencing in newborn screening, PHG Foundation, Sep 4
Development and use of active clinical decision support for preemptive pharmacogenomics
Bell GC, et al. J Am Med Inform Assoc 2013 Aug
Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study
Minoli A Perera et al., Lancet, August 30
Genetics of warfarin dosing—one polymorphism at a time
Mark J Alberts, Lancet, August 30
Genotype and phenotype concordance for pharmacogenetic tests through proficiency survey testing
Wu AH Arch Pathol Lab Med 2013 Sep;137(9):1232-6
Providing patients with pharmacogenetic test results affects adherence to statin therapy: results of the Additional KIF6 Risk Offers Better Adherence to Statins (AKROBATS) trial
Charland SL, et al. Pharmacogenomics J 2013 Aug
Reproductive health choices for young adults with sickle cell disease or trait: Randomized controlled trial immediate posttest effects
Wilkie DJ, et al. Nurs Res 2013 Sep-2013 Oct;62(5):352-61
The German national registry for primary immunodeficiencies (PID)
Gathmann B, et al. Clin Exp Immunol 2013 Aug;173(2):372-80
Rare-disease genetics in the era of next-generation sequencing: discovery to translation
Boycott K, et al. Nat Reviews Genetics 2013 Sep 3
The costly paradox of health-care technology, MIT Technology Review, Sep 5
Collecting data is easy; making sense of it is not, The Mermaids Tale, Sep 4
For $9,000, your personal genome sequenced, Carrie Tian, CommonHealth, Aug 27
The ABC’s of Your DNA- ‘Genome: Unlocking Life’s code,’ at the Smithsonian, by E Rosthstein, New York Times, Aug 29
Genome biology: Not drowning but waving
Adrian Bird, Cell, 154;5:951-952 2013 Aug 29
Genetic research: A matter of trust, Milwaukee Courier, Aug 30
The promise of poop
Jop de Vrieze Science, 30 August 2013: Vol. 341 no. 6149 pp. 954-957
Cancer knows no borders- Unafraid to tackle cancer disparities across races, Olufunmilayo “Funmi” Olopade has demonstrated that genomics research can make a big impact on public health, by Megan Scudellari, The Scientist, Aug 1
Data analysis: Today’s next-gen sequencing imperative, John Russell, Genetics and Bioengineering News, Sept 1
A literature search tool for intelligent extraction of disease-associated genes.
Jung JY et al. J Am Med Inform Assoc, September 2
PhenDisco: phenotype discovery system for the database of genotypes and phenotypes
Doan S, et al. J Am Med Inform Assoc 2013 Aug
STROGAR - STrengthening the Reporting Of Genetic Association studies in Radiogenomics
Kerns SL, et al. Radiother Oncol 2013 Aug
CDC authors are indicated in bold
Acute chest syndrome is associated with single nucleotide polymorphism-defined beta globin cluster haplotype in children with sickle cell anaemia
Bean CJ, Boulet SL, Yang G, Payne AB, Ghaji N, Pyle ME, Hooper WC, Bhatnagar P, Keefer J, Barron-Casella EA, Casella JF, Debaun MR. Br J Haematol. 2013 Aug 16.
Newborn screening: From Guthrie to whole genome sequencing
Caggana M, et al. Public Health Rep 2013 Sep;128(Suppl 2):14-9
Urinary bisphenol A concentrations and cytochrome P450 19 A1 (Cyp19) gene expression in ovarian granulosa cells: An in vivo human study
Ehrlich S, Williams PL, Hauser R, Missmer SA, Peretz J, Calafat AM, Flaws JA. Reprod Toxicol. 2013 Jul 10;42C:18-23.
Utilization of epidermal growth factor receptor (EGFR) testing in the United States: a case study of T3 translational research
Lynch JA, Khoury MJ, Borzecki A, Cromwell J, Hayman LL, Ponte PR, Miller GA, Lathan CS. Genet Med. 2013 Aug;15(8):630-8.
Use of genomic panels to determine risk of developing type 2 diabetes in the general population: a targeted evidence-based review
Palomaki GE, Melillo S, Marrone M, Douglas MP. Genet Med. 2013 Aug;15(8):600-11.
Molecular mechanisms of macrolide resistant invasive Streptococcus pneumoniae isolates from Alaska, 1986 to 2010
Rudolph K, Bulkow L, Bruce M, Zulz T, Reasonover A, Harker-Jones M, Hurlburt D, Hennessy T. Antimicrob Agents Chemother. 2013 Aug 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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