Genomics & Health Impact Update
Volume 32 Number 4 January 30 - February 6, 2014About the Update
Contents of the week
- Public Health Genomics: Highlights 2013
- Genomics & Global Health
- Drug Safety & Effectiveness
- Sudden Death in the Young
- Personal Genomic Tests
- Influenza: Genomics & Severity
- Implementing Genomic Medicine
- Antibiotic Resistance, Genomics & Public Health
- Pregnancy Outcomes: Genomics & Family History
- Measuring Impact of Science
CDC/ NAS Meeting: Guidelines for Returning Individual Results from Genomic Research Using Population-Based Banked Specimens: A Workshop, February 10-11, 2014
New genetic testing pathway for cancer patients, by Dr Philippa Brice | PHG Foundation, Jan 24
Identification, evaluation, and treatment of patients with hereditary cancer risk within the United States
Cragun D & Pal T ISRN Oncol 2013 Dec;2013:260847
Integrated analysis of germline and somatic variants in ovarian cancer.
Krishna L. Kanchi, et al. Nature Communications, Jan 22, 2014
KRAS early testing: consensus initiative and cost-effectiveness evaluation for metastatic colorectal patients in an Italian setting
Barone C, et al. PLoS One 2014 Jan;9(1):e85897
Laboratory policies on reporting secondary findings in clinical whole exome sequencing: Initial uptake of the ACMG's recommendations
Hufnagel SB & Antommaria AH Am J Med Genet A 2014 Jan
Lynch syndrome patients' views of and preferences for return of results following whole exome sequencing
Hitch K, et al. J Genet Couns 2014 Jan
Oncotype DX results in multiple primary breast cancers
Toole MJ, et al. Breast Cancer (Auckl) 2014 Jan;8:1-6
Patients' understanding of how genotype variation affects benefits of tamoxifen therapy for breast cancer
Brewer NT, et al. Public Health Genomics 2014 Jan:43-7
Randomized noninferiority trial of telephone versus in-person genetic counseling for hereditary breast and ovarian cancer
Schwartz MD, et al. J Clin Oncol 2014 Jan
Risk-reducing surgery increases survival in BRCA1/2 mutation carriers unaffected at time of family referral.
Ingham SL, et al. Breast Cancer Res Treat. 2013 Dec;142(3):611-8.
Risk-reduction surgery for ovarian cancer improves survival, Oncology Nurse Advisor, Jan 23
Telehealth personalized cancer risk communication to motivate colonoscopy in relatives of patients with colorectal cancer: The Family CARE Randomized Controlled Trial
Kinney AY, et al. J Clin Oncol 2014 Jan
Utilization of Oncotype DX in an inner city population: race or place?
Guth AA, et al. Int J Breast Cancer 2013;2013:653805
World Health Organization: New open access policy for WHO-authored or WHO-funded research published in journals and books
Current status, challenges, policies, and bioethics of biobanks
Kang B, et al. Genomics Inform 2013 Dec;11(4):211-7
Data sharing in research: benefits and risks for clinicians.
E. Antman, BMJ 23 January 2014
Intellectual property and regulation of molecular pathology tests
Klein RD Cancer J 2014 Jan-2014 Feb;20(1):85-90
Managing incidental genomic findings in clinical trials: fulfillment of the principle of justice
Dal-Re R, et al. PLoS Med 2014 Jan;11(1):e1001584
Predictive genetic testing of children and the role of the best interest standard
Ross LF J Law Med Ethics 2013 Dec;41(4):899-906
Realities of data sharing using the genome as case study - an historical perspective and commentary. [PDF 506.32 KB]
Barbara R Jasny EPJ Data Science 2013, 2:1
Returning pleiotropic results from genetic testing to patients and research participants
Jonathan M. Kocarnik, et al. JAMA. 2014 Jan 30
Should research subjects have access to their raw data? C. Johnso, Boston Globe, Jan 23
Trends in genetic patent applications: the commercialization of academic intellectual property
Kers JG, et al. Eur J Hum Genet 2014 Jan
A pediatric approach to family history of cardiovascular disease: diagnosis, risk assessment, and management
Miller EM & Hinton RB Pediatr Clin North Am 2014 Feb;61(1):187-205
Adapting genetic counseling training to the genomic era: more an evolution than a revolution
Wicklund C & Trepanier A J Genet Couns 2014 Jan
Australians' knowledge and perceptions of direct-to-consumer personal genome testing
Savard J, et al. Intern Med J 2014 Jan;44(1):27-31
Managing genetic tests, surveillance, and preventive medicine under a public health insurance system
Filipova-Neumann L & Hoy M J Health Econ 2013 Dec;34C:31-41
Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for cytochrome P450 2D6 (CYP2D6) genotype and codeine therapy: 2014 Update
Crews KR, et al. Clin Pharmacol Ther 2014 Jan
Thirteen patients with MAT1A mutations detected through newborn screening: 13 years' experience
Chadwick S, et al. JIMD Rep 2014 Jan
Attitudes on Warfarin pharmacogenetic testing in Chinese patients and public
Chan SL, et al. Int J Technol Assess Health Care 2014 Jan:1-8
Live genomics for pathogen monitoring in public health
Giuseppe D'Auria et al. Pathogen Genomics 2014 3(1), 93-108;
A polygenic burden of rare disruptive mutations in schizophrenia.
Purcell SM, et al. Nature. 2014 Jan 22.
De novo mutations in schizophrenia implicate synaptic networks.
Fromer M, et al. Nature. 2014 Jan 22.
The complex genetic basis of schizophrenia, PHG Foundation, Jan 27
Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes.
Valgerdur Steinthorsdottir, et al. Nature Genetics, January 26, 2014
The impact of personalized risk feedback on Mexican Americans' perceived risk for heart disease and diabetes
Hovick SR, et al. Health Educ Res 2014 Jan
Will formal genetics become dispensable? [PDF 136.61 KB]
Clerget-Darpoux F, et al. Hum Hered. 2013 Oct 2;76(2):47-52
Multi-billion genomics market heads for personalised medicine, PHG Foundation, Jan 29
Exploring the complex genetics of schizophrenia, by Dr. Francis Collins, NIH Director’s Blog, Jan 28
The need for a smart approach to big health care data, Health affairs blog post, David Newman et al. Jan 27
We basically have the whole genome sequence of an entire nation, by Stephen Hsu,Information Processing blog post, Jan 26
New genetic testing pathway for cancer patients, PHG Foundation, Jan 24
Personalized medicine slogs toward reality, by Lauren Gravitz, The Crux, Jan 23
Nucleic Acid Research: Genomics and other databases issue. Volume 42 Issue D1 1 January 2014
CDC authors are indicated in bold
DNA barcoding for the identification of sand fly species (Diptera, psychodidae, phlebotominae) in Colombia.
Contreras Gutiérrez MA, Vivero RJ, Vélez ID, Porter CH, Uribe S. PLoS One. 2014 Jan 15;9(1):e85496.
Draft genome sequence of Mortierella alpina isolate CDC-B6842.
Etienne KA, Chibucos MC, Su Q, Orvis J, Daugherty S, Ott S, Sengamalay NA, Fraser CM, Lockhart SR, Bruno VM. Genome Announc. 2014 Jan 23;2(1). pii: e01180-13.
Genomic epidemiology of Neisseria gonorrhoeae with reduced susceptibility to cefixime in the USA: a retrospective observational study.
Grad YH, Kirkcaldy RD, Trees D, Dordel J, Harris SR, Goldstein E, Weinstock H, Parkhill J, Hanage WP, Bentley S, Lipsitch M. Lancet Infect Dis. 2014 Jan 21. pii: S1473-3099(13)70693-5.
Visual endpoint detection of Escherichia coli O157:H7 using isothermal Genome Exponential Amplification Reaction (GEAR) assay and malachite green
Jothikumar P, Narayanan J, Hill V. J Microbiol Methods. 2014 Jan 11.
LABEL: Fast and Accurate Lineage Assignment with Assessment of H5N1 and H9N2 Influenza A Hemagglutinins.
Shepard SS, Davis CT, Bahl J, Rivailler P, York IA, Donis RO. PLoS One. 2014 Jan 23;9(1):e86921.
SLCO1B1 polymorphisms and statin-induced myopathy.
Stewart A. PLoS Curr. 2013 Dec 4;5. pii: ecurrents.eogt.d21e7f0c58463571bb0d9d3a19b82203.
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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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