Genomics & Health Impact Update
Volume 31 Number 13 September 26 - October 3, 2013About the Update
Middle East Respiratory Syndrome (MERS)? CDC information
Transmission and evolution of the Middle East respiratory syndrome coronavirus in Saudi Arabia: a descriptive genomic study.
Cotten M, et al. Lancet. 2013 Sep 19. pii: S0140-6736(13)61887-5.
MERS Co-V genomes reveal complex transmission patterns, Wellcome Trust Sanger Institute, Sep 20
Genomic analysis of MERS coronavirus reveals transmission, by Dr Philippa Brice, PHG Foundation, Sep 23
World Health Organization report: Dementia as a public health priority
Did you know? 1549 genes have been reported in relation to risk and outcomes of Alzheimer’s disease, including 123 genomewide association studies. Top associated genes include ApoE and MAPT. To find out more, visit the HuGENavigator
Learn about genetic disorders and genetic testing associated with Alzheimer’s disease from the NIH Genetic Testing Registry
CDC information: And the beat goes on: Celebrate World Heart Day
CDC information: Heart disease and family history
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
Cascade FH Registry: CAscade SCreening for Awareness and DEtection of Familial Hypercholesterolemia
FH: A story of hope, video from the FH Foundation
What's the point of genetic testing for FH? PHG Foundation, Sep 26
The British Columbia Familial Hypercholesterolemia Registry
Wong S, et al. BCMJ vo 55 no 7 pg 326-330 2013 Sep
NHGRI Division of Genome Medicine plans, directs, funds and facilitates multi-disciplinary research to identify and advance approaches for the use of genomic data to improve diagnosis, treatment and prevention of disease
The MedSeq™ Project: Integration of whole genome sequencing into clinical medicine
CDC paper: Beyond base pairs to bedside: A population approach for using genomics to improve health.
Khoury MJ, et al. Am J Publ Health 2012
CDC paper: The arrival of genomic medicine to the clinic is only the beginning of the journey. [PDF 165.38 KB]
Evans J, et al. Genetics in Medicine, 2013
Communicating genetic risk information for common disorders: great challenges but also great potential. [PDF 929.26 KB] Lautenbough D, et al. Nature Rev Genetics & Genomics 2013
CDC report: Antibiotic resistance threats in the United States, 2013 gives a first-ever snapshot of the burden and threats posed by the antibiotic-resistant germs having the most impact on human health.
Untreatable: Report by CDC details today's drug-resistant health threats, CDC Newsroom, Sep 16
When bacteria fight back, Medical Xpress, Sep 23
Genomic analysis of superbug provides clues to antibiotic resistance. Science Daily (2011)
The comprehensive antibiotic resistance database.
McArthur AG, et al. Antimicrob Agents Chemother. 2013 Jul;57(7):3348-57.
Genomics Research: The underpinning of infectious disease prevention and control strategies. Public Health Genomics special issue (2013)
CDC information: Anyone over 45 years should consider getting tested for diabetes, especially if overweight. If you are younger than 45, but are overweight & have a parent, brother or sister w diabetes, you should consider getting tested
CDC National Registry of Recognized Diabetes Prevention Programs: Can be used by health care providers to refer patients to a local program; and to also help people who want to make a lifestyle change to prevent type 2 diabetes.
CDC information: Breast and ovarian cancer and family health history
CDC information: Breast and ovarian cancer and genetic testing
My Family Health Protrait: A tool from the Surgeon General, collect your family history in Spanish
Diabetes brochure in Spanish: Family history and diabetes-Take steps towards better health!
Genomic health disparities, Type 2 diabetes and Mexican-Americans
Liliana Uribe-Bruce et al. Endoc Reviews (2012)
Genetics and Primary Care Institute webinar: Integrating Genetics in Your Practice: Overview of Genetic Testing and Screening. Oct 8
Education is key
Seton-Rogers S Nature Reviews Cancer 13, 680 2013 Sep 24
Lynch syndrome-associated colorectal carcinoma: frequent involvement of the left colon and rectum and late-onset presentation supports a universal screening approach.
Hartman DJ, et al. Hum Pathol. 2013 Sep 10.
Selective screening missed 13% of Lynch syndrome–associated colorectal cancers, The Oncology Report, Sep 24
Alderton GK Nature Reviews Cancer 13, 681 2013 Sep 24
Supplemental screening ultrasound increases cancer detection yield in BRCA1 and BRCA2 mutation carriers
Bosse K, et al. Arch Gynecol Obstet 2013 Sep
Validation of a proliferation-based expression signature as prognostic marker in early stage lung adenocarcinoma
Wistuba II, et al. Clin Cancer Res 2013 Sep
Draft NIH genomic data sharing policy request for public comments, a notice by the National Institutes of Health, Federal Register, Sep 20
Public consultation on NIH genomic data sharing policy, PHG Foundation, Sep 24
Ethical issues in infectious disease genomics, PHG Foundation, Sep 19
Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study
Facio FM, et al. Eur J Hum Genet 2013 Mar;21(3):261-5
Associations of personal and family preeclampsia history with the risk of early-, intermediate- and late-onset preeclampsia
Boyd HA, et al. Am J Epidemiol 2013 Sep
Collection of family health history for assessment of chronic disease risk in primary care
Powell KP, et al. N C Med J 2013 Jul-2013 Aug;74(4):279-86
Development and validation of a primary care-based family health history and decision support program (MeTree)
Orlando LA, et al. N C Med J 2013 Jul-2013 Aug;74(4):287-96
Actionable, pathogenic incidental findings in 1,000 participants exomes.
Michael O. Dorschner et al, Am J Human Genetics, Sep 19
Hereditary hemochromatosis: Missed diagnosis or misdiagnosis?
Cherfane CE, et al. Am J Med 2013 Sep
Opportunities for genomic clinical decision support interventions.
Casey Lynnette Overby et al, Genetics in Medicine, Sep 19
Predictive genetic testing for complex diseases: a public health perspective
Marzuillo C, et al. QJM 2013 Sep
Clinical utility gene card for: Cystinosis
Levtchenko E, et al. Eur J Hum Genet 2013 Sep
Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies
Ostern R, et al. BMC Med Genet 2013 Sep;14(1):94
Ensuring the integrity of clinical practice guidelines: a tool for protecting patients
Lenzer J, et al. BMJ. 2013 Sep 17;347:f5535.
Gene expression profiling and expanded immunohistochemistry tests for guiding adjuvant chemotherapy decisions in early breast cancer management: MammaPrint, Oncotype DX, IHC4 and Mammostrat (DG10), NICE, Sep 20
Tuberous sclerosis complex diagnostic criteria update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference
Northrup H, et al. Pediatric Neurology vol 49 iss 4 pg 243-254 2012 Oct
Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference
Krueger D, et al. Pediatric Neurology vol 49 iss 4 pg 255-265 2012 Oct
Impact of CYP3A4*22 allele on tacrolimus pharmacokinetics in early period after renal transplantation: Toward updated genotype-based dosage guidelines
Elens L, et al. Ther Drug Monit 2013 Oct;35(5):608-16
Diverse sources of C. difficile infection identified on whole-genome sequencing
Eyre D, et al. N Engl J Med 2013; 369:1195-1205 2013 Sep 26
The emergence of commercial genomics: Analysis of the rise of a biotechnology subsector during the Human Genome Project, 1990-2004
Wiechers IR, et al. Genome Med 2013 Sep;5(9):83
A host-based rt-PCR gene expression signature to identify acute respiratory viral infection.
Zaas AK, et al. Sci Transl Med. 2013 Sep 18;5(203):203ra126.
Distinguishing between viral and bacterial infections using genomic test, Medical News Today, Sep 20
A systematic approach to assessing the clinical significance of genetic variants.
Duzkale H, et al. Clin Genet. 2013 Sep 4.
Single-cell analysis: toward the clinic
Michael R Speicher Genome Med Aug 2013
Incidentally,...... (Interpreting incidental findings from DNA sequence data), by Anne Buchanan, The Mermaid's Tale, Sep 25
A dispatch from the genetic frontier, by Theo Bloom, PLos Blogs, Sep 24
The bursting of the big data bubble, Cathy O’Neill, September 22
Opinion: Translational research in crisis. Turning discoveries made in academic labs into innovative therapies requires a radically new approach. By Masoud H. Manjili, The Scientist, Sep 10
Opinion: Reasons for the R&D crisis. Response to an opinion in The Scientist charting current pitfalls in translational research. By Jan Brábek and Michael Fernandes, The Scientist, Sep 23
Gene therapy with a difference, The New York Times, Sep 23
Genomics: Why individualized medicine matters, by Angelina Reyes, UCONN Today, Sep 23
A unified GMDR method for detecting gene–gene interactions in family and unrelated samples with application to nicotine dependence.
Guo-Bo Chen, et al. Human Genetics 2013
The NCI Cancer Genomics and Epidemiology Navigator online searchable database: provides linked information on cancer genomics & epidemiology funding, publications, and genomic tests
CDC authors are indicated in bold
Collaborative cancer epidemiology in the 21st century: the model of cancer consortia.
Burgio MR Jr, Ioannidis JP, Kaminski BM, Derycke E, Rogers S, Khoury MJ, Seminara D.
Cancer Epidemiol Biomarkers Prev. 2013 Sep 19.
Factors affecting maternal participation in the genetic component of the National Birth Defects Prevention Study—United States, 1997–2007
Jill Glidewell MSN, MPH, Jennita Reefhuis PhD, Sonja A. Rasmussen MD, MS, Alison Woomert PhD, Charlotte Hobbs MD, PhD, Paul A. Romitti PhD & Krista S. Crider PhD
Application of real time RT-PCR for the genetic homogeneity and stability tests of the seed candidates for live attenuated influenza vaccine production.
Shcherbik S, Sergent SB, Davis WG, Shu B, Barnes J, Kiseleva I, Larionova N, Klimov A, Bousse T. J Virol Methods. 2013 Sep 18.
Genetic testing strategies in newly diagnosed endometrial cancer patients aimed at reducing morbidity or mortality from Lynch syndrome in the index case or her relatives.
Stewart A Phd. PLoS Curr. 2013 Sep 16;5.
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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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